1. Possible cause, a definite etiology is rarely found
2. The extent of involvement and impairment.

1. Respiratory infection, aspiration
2. Convulsion
3. Diarrhea.

1. Delayed milestones as observed by the parents
   2
2. Activities of daily living like mobility, contractures, feeding problems including sucking and swallowing
3. Floppy baby or spastic child: Hypotonia may precede the development of spasticity in some children
4. Detailed history of convulsions
5. Higher functions
6. Cranial nerves: Vision, position and movement of eyeballs; speech and hearing; drooling of saliva and pooling of secretions
7. Bladder and bowel dysfunction
8. Involuntary movements
9. Sensory dysfunction
10. Any other abnormality like head shape and size, skin and bedsores, behavioral problems.

 

1. Infection like fever with rash and infectious contacts during pregnancy
2. Maternal diseases like diabetes or hypertension
3. Maternal trauma, radiation exposure and drugs: Sulphonamides (jaundice), trimethoprim (teratogenicity), tetracycline (decreased bone growth), imipenem (seizure), antineoplastic agents (cellular damage)
4. Fetal movement
5. Antenatal USG showing abnormal fetal growth.

 

1. Detailed history of labor, prolonged second stage, rupture of membrane, bleeding per vagina, meconium stained liquor
2. Presentation and application of forceps or cesarean section and the reason if known
3. Term, preterm or post dated and birth weight
4. Presence of pediatrician at the time of delivery.

 

1. Whether the baby cried immediately or not (birth asphyxia) and the mode of resuscitation done
2. Neonatal jaundice and the need for exchange transfusion
   3
3. Whether the baby was mechanically ventilated and the reason behind
4. Umbilical sepsis, fever, neonatal convulsions
5. Activity in the neonatal period like cry, feed.

             

1. Height or length in recumbent patients
2. Weight
3. Head circumference: Many children have microcephaly
4. Chest circumference

 

1. Consciousness
2. Oral and dental hygiene, skin condition and hair changes
3. Dysmorphic features
   4
4. Posture and contractures
5. Cranium and spine
6. Intervention: Operative scars, orthosis, nasogastric tube, type of clothing like whether diapers are used in older child (incontinence).

   

6 m.	Transfers objects from one hand to another
9 m.	Pincer grasp
15 m.	Tower of 2 cubes
18 m.	Tower of 3 cubes or turns 2–3 pages at a time
24 m.	Tower of 6–7 cubes or turns 1 page at a time
3 yrs.	Copies a circle
4 yrs.	Copies a cross
4.5yrs.	Copies a square
5 yrs.	Copies a triangle
6 yrs.	Copies a hexagon

 

1. Supine: Posture, ATNR, abnormal movement
2. Pull to sit: Finger grasp, head lag
3. Vertical (grasp the chest wall under axilla): Hypotonia/hypertonia, scissoring, walking reflex
4. Tilt sideways: Head writing
5. Ventral suspension: Extensor tone
6. Prone: Ability to lift head.

 

1. Supine: Glabellar tap, rooting, sucking, ATNR
2. Vertical: Placing, stepping
   5
3. Ventral suspension: Landau, Gallant
4. Moro's, parachute.

 

1. Posture and decubitus.
2. Higher function
   Consciousness, communication, irritability.
3. Cranial nerves
   Particular importance in CP: 2nd, 3rd, 4th, 6th, 7th, and 8th, 9th, 10th cranial nerves. Differentiation of 9th and 10th cranial nerve lesion: Gag reflex lost in both. On eliciting the gag reflex if the child wretches then the sensory arc carried through the 9th cranial nerve is intact.
4. Motor system
   Should be examined with head in midline to counter asymmetric tonic neck reflex (ATNR). Tone is increased in 70% CP cases. Classically it is clasp-knife spasticity, best demonstrated by elbow extension. These children may be hypotonic initially. Power may not be lost even with gross abnormalities of tone. There may be a reduction of voluntary movements characterized by wide based gait, arms stretched out for balance and associated excess of involuntary movements (choreoathetoid movements, dystonic spasm and various types of seizures).
5. Reflexes
   Brisk tendon jerks with clonus and extensor planter in spastic group. Abdominal reflex (outside towards midline strokes) are absent in upper motor neuron (UMN) lesion above their respective spinal levels. In the diseases of thoracic spine they may indicate the segmental level of lesion. Abdominal reflexes may be preserved with pyramidal tract involvement in the following: CP, Arnold Chiari malformation, hydrocephalus.
6. Cerebellar signs
   Should be looked for especially in ataxic CP. The following features are characteristic: Hypotonia, paucity of spontaneous movements, resting tremor of head and intention tremor of hand. Nystagmus is rarely seen.
7. Involuntary movements
   Athetosis (commonest), chorea, dystonic spasm, seizure.
   6

 

1. Hemiplegic CP
   Walking on the toes of the affected side, extension of the knee and circumduction of the leg, short Achilles tendon with clawing of the toes.
2. Cerebral diplegia
   Walks with flexed hips and knees, taking weight on the toes, steps are short with rotation of the body for advance of the leading foot.
3. Ataxic CP
   Broad based gait with arms raised for balancing.

     

1. Movements: Paucity, excessive, disorganized
2. Stereotyped behavior.
3. Abnormal tone: Hypo/hypertonia.
4. Constant fisting after 2 months of age
5. Hyperextension of head/neck
6. Feeding problem like sucking-swallowing incoordination
7. Deviant behavior: Early hand preference, sitting in W position
8. Poor quality of sleep.

 

Table 1.1.1   Various developmental reflexes Level of control Reflexes Appears at Disappears at Spinal cord Flexor withdrawal Extensor withdrawal Crossed extensor Gallant Birth 2 weeks Brain stem Asymmetric tonic neck Symmetric tonic neck Tonic labrynthine Positive supporting Negative supporting 2 weeks 6 months Midbrain Neck correcting body Labrynthine correcting body Optical correcting body 4 months 2 years Cortical or Cerebellar Various balancing reflexes 2 years Stretch receptors of neck Moro Birth 6 months Semicircular canal Parachute, Landau

 

1. Stroke from placental embolus
2. IU infection
3. Genetic diplegia
4. IUGR
5. Congenital malformations: Holoprosencephaly, hydrocephalus, porencephalic cyst, megalencephaly, primary genetic micro-cephaly, Aicardi syndrome
6. Prenatal unknown cause (probably placental).

     

1. Underdevelopment of the affected side
2. Minimal facial involvement
3. Preserved abdominal reflexes.

         

1. Physiotherapist
2. Occupational therapist
3. Speech therapist
4. Ophthalmologist
5. Orthopedic surgeon
6. Nurse
7. Pediatrician or General physician
8. Teacher

 

1. Physical therapies: Bobath, Voitja, Doman-Delicato, Peto, Temple Fay, PNF (Kabat).
2. Orthotics: Solid and hinged.
3. Plaster immobilization: Serial casting.
4. Drugs: Diazepam, baclofen, dantrolene, L-dopa, botulinum toxin.
5. Therapeutic and functional electrical stimulation.
6. Orthopedic surgery: Single or multiple soft tissue release, bone surgery.
7. Selective dorsal rhizotomy.
8. Aids for posture and mobility.
9. Positioning program.
10. Neurosurgery.

 

1. No child should be labelled as hopeless
2. Treatment should commence as early as possible
3. Treatment should be individualized and goals change with child's age and growth
4. Active participation of parents and family should be encouraged.

   

1. Child kept in sitting position/propped up/hammock always to counter atonic reflexes. If supine posture is inevitable then neck is cushioned and flexed
2. Correct method of handling and lifting the child: Place the child in sitting position before lifting then the child's arm is placed around the mothers shoulder, legs are abducted and knees flexed
3. Head control: Prone (pillows under chest) or sitting (cloth covered cardboard around neck). Colorful toys are dangled above for fixing and head control
4. Sit with support: Cardboard/empty wooden box/inverted stool
5. Crawling: Pillows under chest
6. Walking: Use of walker
7. Gait training: Use of parallel bars
8. Oppose adductor spasm: Keep a ball or pillows between the thighs
9. Oppose extensor hypertonia: Cloth hammock.

 

1. Feeding: Use of special devices like cup with 2 handles, angled spoon, mug with one side cut, plate with lipped sides. Child should be taught to hold the spoon, scoop and take it to mouth. Raising and lowering the mandible encourage chewing movement. Stroking under the chin stimulates swallowing reflex.
2. Dressing including buttoning and tying of laces.
3. Toilet training: Should be done at regular intervals.
4. Training for sensory and perceptual integration: Various feelings, colors, shapes, toys, rattles, etc.

 

1. Ophthalmologist: Squint, refractory error, poor visual acuity.
2. Orthopedic surgeon: Tendon and muscle surgery.
3. Orthotist: Night splint, ankle-foot orthosis, Plastezote jackets to prevent positional deformities, inflatable splints for athetoid children.
4. Clinical psychologist: Behavior and emotional problems, developmental assessment, reverse sleep pattern.
5. Speech therapist: Delayed speech, dysarthria, and dysphonia.
   12
6. Neurologist: Seizure control, sodium valproate may be used as the first line therapy starting at 10–15 mg/kg/day gradually may be increased to 40–60 mg/kg/day. Hepatotoxicity, rash and tremor are possible side effects.
7. Medico-social worker: Counseling for social and financial problems, placement in educational/vocational institute.

 

1. Antispasticity: Diazepam, dantrolene, L-dopa, baclofen. They reduce spasticity but there is no improvement in co-ordination. L-dopa may produce dramatic improvement in athetoid CP.
2. Intrathecal baclofen infusion: Introduced to overcome central effects, but it is a complex procedure with high morbidity.
3. Botulinum toxin: It causes neuromuscular blockage when injected into the muscle. It abolishes voluntary and involuntary movements, dystonia, and spasticity and reflex excitability. Onset of action is at 12 hrs, duration 3 months and is reversible.
4. Anti-reflux medication for gastroesophageal reflux: Cisapride, domperidone.
5. For excessive drooling: Benztropine.

 

1. Selective dorsal rhizotomy
2. Orthopedic surgery: Better for fixed deformity, primary aim is to improve function, not the range of movement. Tendon lengthening, tendon transfer, tenotomy, neurectomy, joint stabilization.

     

1. Onset of quickening (normally 18 weeks in primipara and 16 weeks in multipara), intrauterine fetal movements (less than 10 kicks in 12 hours in late pregnancy is abnormal)
   13
2. Gestational and perinatal drug use like sedatives and muscle relaxants
3. Intrauterine and perinatal infection
4. Detailed history of onset of labor and intrapartum events
5. History of prolonged physiological jaundice (Down/hypothyroid)
6. Family history of hypotonia, history of weakness in mother.

 

1. Acute onset: Trauma
2. Child assuming bizarre posture: Hyper-extensibility
3. Posture with which the child lies: Frog like
4. History of the child slipping through the fingers
5. Distribution of weakness:
   1. Neuropathies have distal weakness except spinal muscular atrophy (SMA).
   2. Myopathies have proximal weakness except myotonic muscular dystrophy.

 

1. Alert child: SMA
2. Dull looking child: CP, mental retardation, sepsis, HIE, drugs.

 

1. Trauma
2. Vaccination/dog bite: Demyelination
3. Immunization status of mother and sibling: Neonatal tetanus, polio
4. Progression of weakness:
   1. Progressive: SMA, muscular dystrophy
   2. Static: CP, myopathy
5. Post exertion fatigue, diurnal variation in weakness: Myasthenia
6. Honey ingestion (source of Botulinum spores), constipation, poor feeding, eating outside prepared food: Botulism
7. Convulsion: Central cause, metabolic myopathy.
8. Hoarse cry, dry skin, constipation: Hypothyroidism
9. Orthopedic deformities at birth: SMA, myotubular myopathy, arthogryposis
   14
10. Sensory symptoms: May be present in hereditary motor sensory neuropathy
11. Autonomic symptoms: End stage muscular dystrophy or Riley Day syndrome
12. Loss of acquired milestones: Degenerative disorder
13. Recurrent diarrhea: Periodic paralysis.

     

1. Alertness and responsiveness.
2. Characteristic facies:
   1. Down facies
   2. Hypothyroidism: Coarse features, large tongue
   3. Myasthenia: Ptosis
   4. Prader-Willie: Obesity, hypogonadism
   5. CMFTD: Dolicocephalic head, open mouth
   6. Myotonic muscular dystrophy: Inverted V shaped upper lip, thin cheeks, scalloped temporal fossae
   7. TORCH infections: Microcephaly/hydrocephalus
3. Eyes:
   1. Ophthalmoplegia: Myotonic dystrophy, mitochondrial myopathy, Miller Fischer type GBS
   2. Cataract: Myotonic dystrophy, TORCH infections
   3. Choreoretinitis: TORCH infections
4. Rash: Connective tissue disorder, TORCH infections
5. Orthopedic deformities: Contractures
6. CDH: Due to laxity
7. Pressure sores
8. Bell shaped chest: SMA, myopathies
9. Neurocutaneous markers
10. Undescended testis: SMA, myopathies.
    15

 

1. Posture: ‘Frog like’ – hips abducted and externally rotated, knees in contact with bed
2. Higher functions: As detailed earlier
3. Cranial nerves: Usually spared in SMA, neuropathies except in Fazio-Londe variant of SMA in which progressive bulbar palsy occurs. Facial asymmetry may be due to weakness and not due to cranial nerve involvement
4. Weakness and wasting: Thenar and hypothenar wasting, sternocleido-mastoid muscle wasting, neck and facial muscle weakness, muscle hypertrophy, and shortening of limbs.
5. Gait: Usually not elicitable, if required Gower's sign to be looked for
6. Fasciculation of the tongue and rarely thenar, deltoid, biceps and signs of intercostals muscle paralysis (paradoxical respiration) are pathognomonic of SMA.
7. Tests specific for confirming hypotonia and hyperextensibility is described in Table 1.2.1 and Table 1.2.2. The whole maneuver is also referred as 180° flip test.

Table 1.2.1   Tests specific for hypotonia and hyperextensibility Tests Normal / What to look for Abnormal Supine Posture of the baby Posture: Frog like Less movement Pull to sit (Traction response) Maintains head in line with trunk Gross head lag. Sitting Degree of head holding, degree of trunk control, ability to sit unsupported Head falls forward, C-shaped spine, can't sit without support Vertical suspension and attempted weight bearing Kicks lower limbs, when foot touches bed tries to bear his own weight Lower limbs hang limp, can not bear weight, slides down when held at axilla. Ventral suspension Holds head at 45° or less. Elbows and knees flexed. Back straight or slightly flexed. Hangs limp like an inverted ‘U’. Prone position Lifts the head, roll over, crawl. Lack of head control.

Table 1.2.2   Maneuvers to diagnose hypotonia Tests Normal / What to look for Abnormal Popliteal angle 90–120° Greater Scarf sign Elbow does not cross midline Elbow crosses midline Heel to ear Does not reach the opposite ear Reaches the opposite ear Arm recoil Brisk Slow or none

 

1. Gently shake the hand and feet
2. Passive hip and shoulder abduction
3. Raise and release limbs
4. Made to sit: Rounded back and falls forward.

8. Reflexes: Absent in SMA and other motor neuron diseases. Absent distally in neuropathies. Diminished but present in myopathies. Brisk in atonic CP. Look for percussion myotonia.
9. Sensory findings: Neuropathy
10. Thickened peripheral nerves: Neuropathy
11. Autonomic features: May be found in long standing neuropathy, CP.
12. Examine the sibling if present.

1. Paucity of movements
2. Week cry
3. Poor suck
4. Hypoventilation and paradoxical respiration (diaphragmatic weakness) or classically bell shaped chest
5. Muscle wasting and winging of scapula.

   

1. Congenital syphilis
2. Scurvy
3. Osteomyelitis
4. Fracture
5. Dislocation like CDH
6. Arthritis
   17

     

1. Birth asphyxia
2. Intra cranial hemorrhage
3. Septicemia
4. Kernicterus
5. Atonic CP
6. Inborn error of metabolism like mucopolysacchirodosis.

 

1. Trauma
2. Epidural abscess
3. Transverse myelitis.

 

1. Spinal muscular atrophy
2. Guillain-Barré syndrome
3. Poliomyelitis.

 

1. Polyneuritis
2. Diphtheria
3. Arsenic poisoning.

 

1. Myasthenia gravis
2. Infantile botulism.

 

1. Muscular dystrophy
2. Polyneuritis
   18
3. Mitochondrial myopathy
4. Glycogen storage disease.

 

1. Down syndrome
2. Hypothyroidism
3. Protein energy malnutrition
4. Rickets
5. Scurvy
6. Osteogenesis imperfecta
7. Ehlers-Danlos syndrome
8. Renal tubular acidosis
9. Celiac disease.

   

1. Spinal muscular atrophy
2. Myopathies
3. Myasthenia gravis
4. Hypotonic CP
5. Down syndrome
6. Hypothyroidism

 

1. Osteogenesis imperfecta
2. Ehlers-Danlos syndrome
3. Marfan's syndrome
4. Rickets
5. Renal tubular acidosis
6. Celiac disease.

 

1. The basic idea is to identify whether the baby is floppy “weak” or floppy “strong”
2. If the baby is floppy weak the pathology is at AHC, peripheral nerve, neuromuscular junction and muscle
3. If the baby is floppy strong the pathology is at central nervous system (UMN lesion) or it is due to other causes.
   19

   

1. RNA transcription defect.
2. Defect in ganglioside metabolism.
3. Uncontrolled death of motor neurons.
4. Autosomal dominant (few are autosomal recessive).

 

1. Severe hypotonia,
2. Wasting,
3. Weakness (more proximal than distal),
4. Fasciculations,
5. Reflexes absent,
6. Normal IQ,
7. Extra ocular muscles, sphincters spared (except Fazio Londe type),
8. Heart not involved.

 

1. Early onset (within 4 months),
2. Problem in the newborn period with feeding difficulty, weak cry, cyanosis, etc.
3. Grossly delayed milestones,
4. Orthopedic deformities at birth,
5. Death before 2 years.

 

1. Onset at 3–15 months,
2. Newborn period may be uneventful,
3. Severe joint and spine deformity later,
4. Slowly progressive,
5. Live to school age (wheel chair bound).

 

1. Mildest form,
   20
2. Onset around 2 years,
3. Waddling gait and Gower’ sign may be the first symptom,
4. Shoulder girdle affected early,
5. Facial muscles may not be involved.

 

1. Serum CPK: Mildly elevated in hundreds,
2. Nerve conduction velocity (NCV): Normal (delayed in peripheral neuropathy),
3. Electromyogram (EMG): Poor interference pattern, fibrillation potential,
4. Muscle biopsy: Pattern of denervation with atrophic muscle fibers and groups of giant type I fibers (attempted regeneration).

 

1. Proper nutrition,
2. Keep the child mobile with braces and callipers as long as possible,
3. Support of the feet to prevent equines and varus deformity,
4. Physiotherapy,
5. Genetic counseling.

 

1. Myotubular myopathy: X linked recessive disorder. Clinical features like SMA type I with generalized hypotonia, weakness, areflexia and contractures. Seventy-five percent die in newborn period and survivors are severely handicapped.
2. CMFTD: Wasting and hypotonia are proportionately more than weakness. They have dolicocephalic head and they may have cerebellar hypoplasia.
3. Central core disease: Similar to other myopathies but are constantly associated with malignant hyperthermia.
4. Nemaline rod myopathy: Infantile and juvenile forms, the later group is ambulatory.

                   

1. Origin
   The weakness of one side of the body may be congenital or acquired. The characteristics of congenital hemiplegia that differentiate it from acquired are:
   1. Underdevelopment of the affected hemiplegic side
   2. Minimal facial involvement
   3. Intact abdominal reflexes.
2. Onset
   1. Catastrophic (hemorrhagic)
   2. Acute (ischemic)
   3. Subacute (infections)
   4. Chronic (degenerative)
   5. Static (CP).
3. Progression and extent of involvement including gait
4. Handedness of the patient
5. Higher functions and speech
6. Cranial nerve involvement
7. Autonomic, involuntary movements, sensory, bladder and bowel.

   

1. Cardiac: Rheumatic, congenital heart disease, infective endo-carditis, cardiac surgery, arrhythmias.
   23
2. Hematological: Sickle cell, leukemia, polycythemia, protein C and S and antithrombin III deficiency.
3. Infective vasculitis: Pyogenic, tuberculous, AIDS, carotid arteritis, cavernous sinus thrombosis.
4. Non-infective vasculitis: SLE, PAN, Takayashu arteritis.
5. Arterial occlusive disorder: Moya moya.
6. Sinovenous occlusion: Dehydration, polycythemia, CCF.
7. Hereditary metabolic: Neurofibromatosis, homocystinuria.
8. Trauma.

 

1. Vascular: AVM, angioma, aneurysm.
2. Hematological: Thrombocytopenia, hemophilia, leukemia, DIC.
3. Trauma.

 

1. Alternating hemiplegia of childhood.
2. Todd paralysis.
3. Cerebral tumor.
4. Encephalitis.

 

1. Activities of daily living
2. Contractures, limb shortening and gait
3. Convulsion
4. Other systemic complications.

 

1. Pulse and BP should be checked preferably in all the limbs
2. Pallor/plethora/cyanosis
3. Typical facies
4. Underdevelopment of one side
5. Skin: Neurocutaneous markers, petechiae, hemorrhage
6. Dehydration
7. Trauma.

           

1. To determine the site of lesion:
   CT scan of brain: CT scan also can reveal etiology in some cases.
2. To determine the etiology:
   1. X-ray skull: Trauma.
   2. Chest X-ray: Source of infection.
   3. CSF examination, blood culture: Infective causes.
   4. Carotid angiography: Hemorrhage, arterio-venous malformations, Moya moya disease.
      25
   5. ECG and echocardiography: Cardiac causes.
   6. Complete hemogram, PT, PTT, FDP, BT, CT, sickling, protein C and S
   7. Bone marrow examination: Leukemia.
   8. MRI and MRI angiography.

   

1. Posture: Optimum position for pain relief and frequent change of posture to prevent sores
2. Nutrition: Specially children bed-ridden for a prolonged period and unconscious
3. Bladder care: There should not be stagnation of urine in bladder, nor the patient should lie in a urine soaked bed
4. Bowel: Bowel should be evacuated regularly
5. Eye care
6. Oral hygiene

 

1. Raised ICT: Head end elevation, fluid restriction, mannitol, diuretics, corticosteroid
2. Convulsion
3. Fever and vomiting
4. Electrolyte imbalance

 

1. Heparin: TIA, stroke in evolution and embolism
2. Thrombolytic: Streptokinase
3. Antiplatelet agents.

   

Table 1.3.1   Localization of lesion in hemiplegia Lesion Localization 7th Cranial nerve + Hemiplegia Cerebral cortex (both contralateral) Internal capsule 3rd, 4th Cranial nerves (ipsilateral) + Hemiplegia (contralateral) Midbrain 6th, 7th Cranial nerves (ipsilateral) + Hemiplegia (contralateral) Pons 9th, 10th, 11th Cranial nerves (ipsilateral) + Hemiplegia (contralateral) Medulla

       

1. Spinal cord compression:
   1. Extradural: Metastasis, inflammatory (epidural abscess), bony abnormalities
   2. Intradural: Neurofibroma, dermoid cyst
   3. Intramedullary: Glioma, ependymoma
   4. Tuberculosis spine.
2. Vascular anomalies of spinal cord: AV malformation, angioma, telangiectasia.
3. Transverse myelitis.
4. Familial spastic paraparesis (white matter degeneration).
5. Lathyrism.
6. Cerebral palsy.
7. Hydrocephalus.

 

1. Spinal shock
2. Poliomyelitis
3. Guillain-Barré syndrome
4. Transverse myelitis
5. Traumatic neuritis.
   28

Table 1.4.1   Lower motor neuron lesions Features Anterior horn cell Nerve root Nerve trunk Myoneural junction Muscle Wasting Present Absent Reflex Absent Absent Absent Present Present Sensory Intact Radicular pain Lost Fatiguability, Diurnal variation Present

 

Add 1 to cervical vertebra	L1, L2 at D10
Add 1 to cervical vertebra	L3, L4 at D11
Add 2 to dorsal vertebra 1–6	L5 at D12
Add 3 to dorsal vertebra 7–9	Sacral and coccygeal at L1

 

1. Nerve root compression due to Pott's spine
2. Pressure effect of granulation tissue
3. Tuberculous arachnoiditis
4. Anterior spinal artery occlusion
5. Intraspinous tuberculoma

 

1. Spastic diplegia
2. Parasaggital tumor
3. Anterior spinal artery thrombosis

 

1. Intramedullary tumor: Bladder– Hand– Leg (as the tumor grows medial to lateral)
2. Extramedullary tumor: Leg–Hand–Bladder
   1. Intradural tumor: Radicular pain
   2. Extradural tumor: Bony changes.

 

Table 1.5.1   Approach to acute onset weakness of lower limbs Signs and symptoms Poliomyelitis GBS Transverse myelitis Traumatic neuritis Progression of paralysis Less than 4 days, max. 7 days From hours to 20 days From hours to 4 days From hours to 4 days Fever at onset Present Absent Absent Variable Flaccidity Proximal, asymmetrical Distal, symmetrical Lower limbs, symmetrical Asymmetric limb Muscle tone Diminished Diminished Diminished in lower limbs Diminished in limb DTRs absent Decreased or Absent limbs Absent in lower absent Decreased or Sensation Myalgia, back ache Cramps, tingling, hyposthesia Anesthesia of lower limbs, root pain Pain in gluteal region Cranial nerve Only when bulbar or bulbospinal Often present Absent Absent Decreased respiration Only when bulbar or bulbospinal In ascending paralysis Absent Absent Bladder dysfunction Transient retention Sometimes Present Absent Sequele Severe asymmetric atrophy Absent or minimal Moderate atrophy Peroneal atrophy 30 CSF: WBC High Less than 10 Normal Normal CSF: Protein Normal or slight increase High Normal or slight increase Normal NCV (3 wks) Normal then slight decrease Abnormal demyelination Normal Abnormal in sciatic nerve EMG (3 wks) Abnormal Normal Normal Normal

 

1. Unrecognized trauma: Fracture, sprain, contusion
2. Hypokalemia: Usually preceded by excessive diarrhea and vomiting, these children are toxic, irritable and they present with generalized acute flaccid paralysis affecting all four limbs and weakness of neck muscles
3. Toxic synovitis: Present with limp and low grade fever
4. Acute osteomyelitis: Localized lesion
5. Acute rheumatic fever: Usually migratory arthritis
6. Scurvy: Usually between 6 months and 2 years of age. There is history of irritability, digestive disorder, legs are kept in frog position and generalized tenderness on handling. Gums may show bluish purple spongy swelling.
7. Congenital syphilitic osteomyelitis.
8. Meningitis and meningoencephalitis.

 

1. Ascending paralysis: Whether the weakness initially started distally and progressing proximally
2. History suggesting respiratory muscle involvement: Difficulty in breathing, decreased chest movements, cyanosis, whether the child was put on ventilator
3. Bulbar palsy: Drooling of saliva, pooling of secretions, nasal regurgitation, dysphagia
4. Bladder dysfunction
   31
5. Immunization history: History of administration of polio vaccine
6. History of similar AFP in the locality suggests polio outbreak.

         

1. Stool: Collect two stool samples 8 grams each (approx. one thumb size) 24–48 hrs apart and send it maintaining reverse cold chain at below 8°C for culture of poliovirus as positive result is most probable within 2 weeks of onset of AFP.
   32
2. Nerve conduction velocity (NCV): Abnormal in GBS.
3. Electromyography (EMG): Abnormal in poliomyelitis (better result after 3 weeks).
4. CSF: Albumino-cytological dissociation in GBS.
5. X-ray spine: Trauma.
6. Serum potassium: Hypokalemia.
7. MRI with contrast: Transverse myelitis.

   

1. Complete bed rest: Change of posture in bed every 2–3 hours. The child should be placed on stomach for short period every day to avoid the risk of pneumonia.
2. Correct positioning of affected limbs: The limbs should be kept in optimum position with pillows and rolled towels. The optimum positions are—hip slight flexion, knee 5° flexion, ankle 90°(support against the sole), both legs supported from the lateral side to prevent external rotation.
3. Passive movement of the joints: 10 minutes 2–3 times a day.
4. Warm water fomentation: 10 minutes 2–3 times a day.
5. Symptomatic treatment for fever and pain.
6. No restriction for diet if the patient can take.
7. No massage or intramuscular injection.
8. If the paralysis progresses, immediate action to be taken.

 

1. GBS: Intravenous immunoglobulin 400 mg/kg daily for 5 days or 1gm/kg for 2 days. Corticosteroids or ACTH may be used. Plasmapheresis is the most effective therapy.
2. Transverse myelitis: Complete immobilization, care of the bladder. Recovery is usually complete within weeks to months.

 

1. Progression of paralysis
2. Respiratory distress
3. Bulbar involvement
4. Paralysis of upper limbs of less than 3 days
5. Marked drowsiness
6. Other complications.
   33

 

1. Physical rehabilitation: In poliomyelitis usually there is wasting, weakness of the limbs; proper physiotherapy with exercise like swimming is encouraged. Callipers and braces are used and occasionally wheelchair is required.
2. Social rehabilitation.
3. Economic rehabilitation.

 

1. Are associated with isolation of wild poliovirus from the stool of the case, or
2. Have residual neurologic sequele at 60 days after the onset of paralysis, or
3. Died before follow-up could determine whether residual neurologic sequele was present at 60 days after onset of paralysis, or
4. Were lost before follow-up could determine whether compatible residual neurologic sequele was present at 60 days after onset of paralysis.

 

1. Collection of demographic and clinical information of the cases
2. Filling up of case investigation forms by the DIO and forwarded to State EPI officer
3. Collection of stool samples
4. Sixty day follow-up to see residual paralysis
5. Outbreak control should cover entire village in rural areas and the municipal area in urban areas. Children under 5 years of age should receive the highest priority to receive one dose of OPV regardless of polio immunization history.

       

1. Strongly suggestive evidence
   CMV, EBV, Coxsackie A, Campylobacter jejuni, Mycoplasma pneumoniae.
2. Probable causes
   1. Other viruses
   2. Chlamydia, toxoplasma, plasmodium, Mycobacterium tuberculosis
   3. Immunizations: OPV, DPT, MMR, HIB, rabies, hepatitis, pneumococcal
   4. Surgery
   5. Trauma
   6. Vasculitis: SLE
   7. Neoplasm: Hodgkin
   8. Drug hypersensitivity
   9. Epidural anesthesia

 

1. Progressive motor weakness in more than one extremity.
2. Areflexia (at least distal with hyporeflexia of biceps and knee jerks)
   35

 

1. Progression, ceases by 4 weeks
2. Relative symmetry
3. Mild sensory symptoms or signs
4. Cranial nerve involvement
5. Recovery, usually 2–4 weeks after progression ceases
6. Autonomic dysfunction
7. Absence of fever at onset of neurologic symptoms.

 

1. Protein: Elevated after first week of symptoms or rising on serial lumbar punctures
2. Cells: 10 or less mononuclear leukocytes per cumm.

   

1. Marked persistent asymmetry of weakness
2. Persistent bladder or bowel dysfunction
3. Bowel or bladder dysfunction at onset
4. More than 50 mononuclear leukocytes per cumm.
5. Presence polymorphs in CSF
6. Sharp sensory level

 

1. Purely sensory syndrome
2. Evidence of lead neuropathy or intoxication
3. Recent diphtheria infection
4. Definite diagnosis of poliomyelitis, botulism, toxic neuropathy or hysteria.

   

1. Infections
   1. Viruses: Varicela, EBV
   2. Bacteria: Borrelia, Mycoplasma pneumoniae
   3. Parasite: Schistosomiasis
   4. Pathogenesis in these cases is by post-infectious cell mediated immunity.
2. Systemic inflammatory diseases: Like SLE.

     

1. Prodromal features: Usually for 1–6 days in viral meningo-encephalitis with malaise, headache, behavioral changes
2. Fever: Long duration low grade in tuberculosis, onset with prodromal features in viral and high grade in bacterial
3. Altered sensorium: Usually sudden in viral and more insidious in tuberculous
   37
4. Prolonged lethargy and weight loss in tuberculous
5. Convulsions
6. Speech disturbance
7. Vision and hearing
8. Features of cranial nerve lesion like deviation of eye balls, facial weakness, drooling and pooling
9. Weakness of limbs
10. Involuntary movements
11. Urinary retention and incontinence, bowel habit
12. Other features like vomiting, headache, urinary disturbance.

 

1. History of any drug intake for a prolonged period: It may be antituberculous drugs or anticonvulsants, or whether any family member takes such drugs.
2. History of similar cases in the neighborhood: Outbreak of viral encephalitis, cerebral malaria.
3. Dramatic onset with vomiting, irritability and convulsion.

   

1. Posture and decubitus: The child may lie in a curled up posture.
2. BP should be measured.
3. Lymphadenopathy may be present.
4. Skin: BCG scar, neurocutaneous markers, café-au-lait spots, bed sore should always be looked for.
5. Anthropometry: PEM is often an accompanying feature, head circumference should be measured and the percentile determined.
6. IV channel, NG tube, bladder catheter should be mentioned if in situ.

 

1. Higher function
   The different stages of decreased consciousness are:
   Lethargy: Difficult to maintain the aroused state
   Obtundation: Responsive (not just withdrawal) to stimulation other than pain38
   Stupor: Responsive (not just withdrawal) only to pain
   Coma: Unresponsive to pain.
   Glasgow coma scale described in Table 1.6.1 is the well accepted tool for assessing the sensorium of a child. It has got three components, best motor response (M6), verbal response (V5) and eye opening (E4). Maximum score is 15.

   Table 1.6.1   Glasgow coma scale Best motor response Verbal response Eye opening Obeys 6 Oriented 5 Spontaneously 4 Localizes 5 Confused conversation 4 To speech 3 Withdraws 4 Inappropriate words 3 To pain 2 Abnormal flexion 3 Incomprehensible sounds 2 None 1 Abnormal extension 2 None 1 None 1

   If the child is unconscious, Doll's eye movement should be tested.
2. Speech: The quality of speech, communication, orientation.
3. Cranial nerves: Particular importance should be given to the examination of: 2nd, 3rd, 4th, 6th, 7th, 8th, 9th and 10th cranial nerves.
4. Motor system: Should be examined with head in midline to counter ATNR. Tone and power should be examined in all limbs. Deep tendon reflex reflects the type of involvement. If hemiplegia is there the site of lesion has to be determined. Abdominal reflex (outside towards midline strokes) are absent in UMN lesion above their respective spinal levels. In the diseases of thoracic spine they may indicate the segmental level of lesion.
   Abdominal reflexes may be preserved with pyramidal tract involvement in the following: CP, Arnold-Chiari malformation, hydrocephalus. Planter response should be elicited to determine pyramidal tract involvement.
5. Cerebellar signs: Should be looked for. The following features are characteristic: Hypotonia, paucity of spontaneous movements, resting tremor of head and intention tremor of hand. Nystagmus is rarely seen.
6. Involuntary movements: Athetosis, chorea, dystonic spasm, seizure.
7. Gait: Gait can be tested in older cooperative child.

 

1. Respiratory system: Aspiration pneumonia and infection should be looked for.
   39
2. Gastrointestinal system: Organomegaly, specially splenomegaly in cerebral malaria, hepatomegaly in Reye's syndrome.
3. PEM: Vitamin deficiency, infection, grade.

     

1. CSF study after doing ophthalmoscopy to rule out increased intracranial pressure
2. Blood: Infective etiology.
3. Mantoux test
4. Gastric lavage for AFB
5. Chest X-ray

 

1. CT scan or MRI brain
2. EEG
3. Brain stem auditory evoked response: Associated deafness should be checked.

   

1. Posture: Optimum position for pain relief and frequent change of posture to prevent sores
2. Nutrition: Specially children bed-ridden for a prolonged period and unconscious
3. Bladder care: There should not be stagnation of urine in bladder, nor the patient should lie in a urine soaked bed
4. Bowel: Bowel should be evacuated regularly
5. Eye care
6. Oral hygiene.
   40

 

1. Raised ICT: Head end elevation, fluid restriction, mannitol, diuretics, corticosteroid
2. Convulsion
3. Fever and vomiting
4. Electrolyte imbalance
5. Secondary lung infection

       

1. Spontaneity: Fluency and content
2. Naming
3. Comprehension: Visual and auditory
4. Reading
5. Writing.

 

1. Cerebellar: Scanning speech, syllables separated
2. Spastic (Pseudobulbar): Slurred
3. Bulbar
4. Cortical.

       

1. Upper motor neuron (above S2): Spastic bladder, low capacity, no residual urine, increased frequency, dribbling, bladder sensation present
2. Lower motor neuron (sacral plexus): Atonic bladder, retention, residual urine present.

   

1. Arbovirus: Japanese encephalitis
2. Enteroviruses
3. Herpes simplex virus 1 and 2
4. Varicella zoster
5. Cytomegalo virus
6. Ebstein Barr virus
7. Rabies
8. Mumps
9. Rubella
10. Respiratory syncitial virus

     

1. Prodromal stage: 1–6 days. Malaise, headache, fever with chills, sudden behavioral changes.
2. Acute encephalitic stage: Few days to few weeks. Fever, neck rigidity, convulsion, altered sensorium, coma, speech disturbance, motor deficit, brisk deep tendon reflexes, extensor planter.
3. Convalescent stage: Either steady improvement or neurological deficits get established.

 

1. Blood: Leukocyte count raised, high ESR
2. CSF: Lymphocyte raised, protein high (never above 90 mg/dl)
3. Serology, ELISA.

   

1. Head injury: It favors dissemination of tuberculous bacilli from meningeal foci.
2. Protein energy malnutrition.
3. HIV infection, immunosuppressive drugs, measles.

   

1. Reduction in cerebral edema
2. Reduction in the formation of exudates in subarachnoid space and promoting its restoration, thus reducing the chances of development of hydrocephalus, cranial nerve damage
3. Prevention of vasculitis
4. Treating associated adrenal failure.

     

Stage 0:	Vomiting without any symptom of brain dysfunction.
Stage I:	Vomiting, confusion and lethargy.
Stage II:	Agitation, delirium, decorticate posturing and hyper-ventilation.
Stage III:	Coma, decerebrate posturing.
Stage IV:	Flaccidity, apnea, dilated and fixed pupils.

   

1. Abnormal gait
2. Inability to do routine work
3. Involuntary movements
4. Regression of milestones.

 

1. Onset: Acute, progressive, recurrent.
2. Trauma
3. Chicken pox
4. Tinnitus and otorrhea
5. Headache, vomiting, altered sensorium, convulsion
6. Tuberculosis disease or contact
7. Drug intake like phenytoin, streptomycin, piperazine
8. Increasing head size.

 

1. Neurocutaneous markers
2. Telangiectasia in the conjunctiva
3. Healed chicken pox scars
4. Blood pressure should be measured.

 

1. Titubation
2. Nystagmus: Phasic horizontal with the fast component towards the side of lesion
   45
3. Finger nose test: Demonstrates intention tremor
4. Speech: Scanning dysarthria
5. Dysdiadochokinesis
6. Oscillation of outstretched arms
7. Pendular knee jerk: Due to hypotonia
8. Heel knee test
9. Rhomberg's sign and truncal ataxia
10. Cerebellar gait:
    1. Broad based, irregularly placed feet
    2. Tendency to fall on affected side
    3. Inability to walk in tandem

   

1. CT scan or MRI brain (the latter gives better view of posterior fossa and cerebellum)
2. X-ray skull
3. X-ray chest and sinuses to check recurrent sino-pulmonary infections in ataxia telangiectasia
4. Blood
5. Urine
6. Investigations for tuberculosis
7. IgG, A, E decreased in ataxia telangiectasia.

 

1. General management: To prevent injury, care of joints, care of skin.
2. In infective etiology relevant management of infections.
3. Corticosteroids: Doubtful use in postinfectious causes, the disease is usually self limiting. ACTH or prednisolone works dramatically in opsoclonus myoclonus.
4. If tumors are operable it should be surgically removed.
   46

   

1. Cerebellar vermis lesion: Midline truncal ataxia, nystagmus, titubation present and the child is wobbly. Limb co-ordination like finger nose test, heel knee test preserved.
2. Cerebellar lobe affection: Co-ordination lost along with other cerebellar signs. Tendency to fall to the affected side with dysmetria and hypotonia on the affected side.

     

1. Infectious: Brainstem encephalitis, cerebellar abscess, labrynthitis, cerebral malaria.
2. Postinfectious-immune: Acute postinfectious cerebellitis, Miller-Fisher syndrome, multiple sclerosis, opsoclonus myoclonus, acute disseminated encephalomyelitis (ADEM)
3. Vascular: Cerebellar hemorrhage, Kawasaki disease.
4. Tumor: Posterior fossa tumor, tuberculoma.
5. Trauma: Cerebellar contusion, concussion, trauma to the neck.
   47
6. Drugs: Phenytoin, carbamazepine, phencyclidine, piperazine, sedatives, hypnotics.
7. Intoxication of alcohol, ethylene glycol, hydrocarbon fumes, lead, mercury, thallium.
8. Others: Conversion reaction.

 

1. Metabolic: Hartnup disease, maple syrup urine disease, pyruvate dehydrogenase deficiency, urea cycle disorders, carnitine acyl transferase deficiency.
2. Hereditary: Ataxia telangiectasia, Friedreich ataxia, neurodegenerative disorders, abetalipoproteinemia.
3. Congenital malformations: Cerebellar dysgenesis, Chiari malfor-mations, Dandy-Walker malformation.
4. Tumor: Posterior fossa tumors (medulloblastoma, astrocytoma), tuberculoma.
5. Others: Malnutrition (due to low level of vitamin E).

 

1. Congenital malformations: Cerebellar dysgenesis, Chiari malformations, Dandy-Walker malformation.
2. Cerebral palsy.

 

1. Postinfectious: Multiple sclerosis, opsoclonus myoclonus.
2. Metabolic: Hartnup disease, maple syrup urine disease, pyruvate dehydrogenase deficiency, urea cycle disorders, carnitine acyl transferase deficiency.
3. Hereditary: Episodic ataxia.
4. Vascular: Basilar migraine, benign paroxysmal vertigo.

     

1. Neurologic: Ataxia soon after starting to walk, maximum by 10–12 years.
2. Oculocutaneous: Telangiectasia first in bulbar conjunctiva at 3–6 years. Later nasal bridge, malar area, ears, hard palate, anterior chest, cubital and popliteal fossae. Café-au-lait spots, grey hair, scleroderma.
3. Immunologic: Decreased IgG, selective absence of IgA and sometimes IgE. Frequent sino-pulmonary infection. Increased incidence of lymphoreticular tumor, brain tumor. Serum α-fetoprotein raised.
4. Endocrinologic abnormalities
5. Hepatic dysfunction.

 

1. 8th cranial nerve is the first to be involved. The features are tinnitus, vertigo and deafness.
2. 5th cranial nerve is also involved early in the course of the disease due to its huge nucleus.
3. Cerebral peduncle is involved due to lateral spread of the tumor.
4. Upward and medial spread is a late feature. Here 7th cranial nerve and pyramidal fibers are involved.
   49

   

1. Gross motor
2. Fine motor
3. Personal social
4. Language

Table 1.8.1   Neurodegenerative disorders in different age groups Less than 2 years More than 2 years Infective AIDS encephalopathy SSPE Congenital syphilis Metabolic Hypothyroidism Wilson disease Aminoaciduria MLD Genetic Grey mater 1. Infantile ceroid lipofuscinosis 2. Lesch syndrome 3. Rett's syndrome Grey mater 1. Neuronal ceroid lipofuscinosis 2. Huntington's chorea 3. Mitochondrial disease 4. Xeroderma pigmentosa White mater 1. Alexander disease 2. Adrenoleukodystrophy White mater 1. Alexander disease 2. Adrenoleukodystrophy Others Neurocutaneous syndromes Lysosomal storage disease

 

1. History of consanguinity
2. Similar illness in the family
3. Fetal or neonatal death in the family where cause is unknown.

   

1. Skin: Neurocutaneous markers
2. Eye: Squint, cataract, telangiectasia, KF ring (Wilson), cherry red spot (Tay-Sachs, Sandhoff, Nieman-Pick), cottage cheese and ketchup (CMV retinitis – HIV), optic atrophy (Batten's disease).
3. Abdomen: Visceromegaly.

     

1. Seizure
2. Personality changes

 

1. Pyramidal features
2. Visual disturbance
3. Focal neurodeficit (Hemiplegia)
   51

   

1. EEG: Normal in white mater lesion.
2. MRI:
   1. White mater: Demyelinating changes
   2. Grey mater: Vascular lesion, ventriculomegaly, cortical atrophy.
3. Blood: Lactate, organic acids, amino acids.

 

1. EEG
2. MRI
3. Where there is PNS involvement: EMG, NCV
4. Wilson's disease: Serum copper, cerruloplasmin
5. Coarse feature, visceromegaly: Thyroid tests
6. Urine: Mucopolysaccharidosis, oligosaccharidosis
7. Ataxia telangiectasia: Raised α-fetoprotein, decreased Ig A,G,E
8. Mucopolysaccharidosis, gangliosidosis: Lymphocytic vacuolar changes.

   

1. Blocked CSF shunts
2. Anticonvulsants and psychotropic drugs.

 

1. Foramen magnum tumor
2. Sandfier's syndrome.

 

1. These are primary myopathy
2. Each disease has a typical genetic basis
   52
3. These are progressive disorders
4. Ultimately there is degeneration and death of muscle fibers.

 

1. Weakness and wasting or hypertrophy are the usual complains:
   1. While eliciting the history, the exact location and distribution of weakness is important. Whether it is predominantly upper limb weakness or lower limb weakness
   2. Onset is not acute
   3. Whether static or progressive
   4. Abnormal gait is often present
   5. Difficulty in climbing stairs suggests proximal weakness
   6. Pseudohypertrophy of muscles may be present as in Duchenne's muscular dystrophy.
2. Involuntary movements or fasciculations are often present.
3. Abnormal gait.
4. History of convulsion is sometimes present. Convulsion is more common than general population.
5. Sensory disturbance and bladder, bowel dysfunction may be present.
6. They may have features of raised intracranial tension like headache, vomiting.

 

1. Respiratory distress: Either due to cardiac or respiratory cause
2. Dysphagia and pain abdomen
3. Any limb deformities or contractures
4. Complains like lethargy, constipation and dry skin: Suggestive of hypothyroidism.
5. Preceding history of viral infections, like fever with rash as in mumps, measles and chicken pox.

       

1. Mood and intelligence.
2. Posture: Resting and standing.
3. Respiratory rate and heart rate.
4. The characteristic facial appearance in myotonic muscular dystrophy is an inverted V-shaped upper lip, thin cheeks and thin temporalis muscle.

       

1. Hypertrophy of muscles
   In Duchenne's muscular dystrophy, different muscle hypertrophy in order of appearance are:54
   Calf muscle (1st to get hypertrophied), tongue (without fasciculations), deltoid, infraspinatus.
2. Wasting of muscles
   In Duchenne's muscular dystrophy:
   Small interscapular muscle bulk, small proximal upper limb muscles, abdominal and anterior axillary fold (atrophied sternal head of pectoralis major). Lordosis, internal rotation of femur, small thigh, equinous deformity of feet.
3. Myotonia
   It is the very slow relaxation of muscle after contraction. It is the typical feature of myotonic muscular dystrophy. It may be demonstrated by asking the patient to make a fist then to open quickly. Percussion myotonia may be demonstrated by striking the thenar eminence by a hammer, when the thumb is drawn involuntarily across the palm.
   Hypertrophy of muscles and myotonia is absent in Emery-Dreifuss dystrophy. Contractures may be present.
4. Power
   Progressive weakness, but distal muscle powers are relatively well preserved.
5. Reflexes
   Knee jerk disappears early but ankle jerk may be preserved.
6. Gait
   Feet: Foot drop due to weakness of tibialis anterior muscle. Inversion due to strong tibialis posterior. Heels remain off the ground due to tight tendo Achilles. So high stepping gait.
   Knees: Snapped back in extension due to weak quadriceps, known as knee locking gait.
   Hips: Rotation of upper body to enable leg swing. Weak hip flexors and abductors. Trendelenberg gait. Forward tilt, lordosis due to weak extensor.
   Overall waddling gait.
7. Gower's sign
   The child is asked to get up from supine position. From supine the child becomes prone, then in all four limbs and finally he “climbs up” from feet to knees then to trunk by both hands. Toddlers may have lordotic posture and the first evidence of Gower's sign is usually evident by 3 years. The sign is fully expressed by 5–6 years of age.
   55

 

1. CVS
   Cardiomyopathy is often present in muscular dystrophies. The severity of cardiac involvement does not necessarily correlate with the degree of skeletal muscle weakness. Cardiomyopathy is most severe in Emery-Dreifuss muscular dystrophy. It is also seen in Duchenne's and Becker muscular dystrophies. In limb-girdle muscular dystrophy cardiac involvement is unusual. Unlike most other muscular dystrophies, arrhythmia and heart block are seen in myotonic muscular dystrophy.
2. Respiratory
   Respiratory muscle is involved with disease progression. The manifestations are weak and ineffective cough; frequent pulmonary infections and decreased respiratory reserve expressed as progressively weak speech. Pharyngeal muscle weakness may cause nasal voice, nasal regurgitation and aspiration.
3. Gastrointestinal
   Protuberant abdomen, hepatomegaly may be associated.

   

1. Serum CPK: Raised to thousands (usually 15000–35000 IU/L) in DMD.
2. SGOT: Raised
3. Serum LDH: Raised.
4. EMG: Low amplitude, short duration, polyphasic action potential. Characteristic myopathic features.
5. NCV: Normal. No denervation.
6. Muscle biopsy: Degenerative and regenerative changes. Rounded opaque fibers, proliferation of connective and adipose tissue.
   Preferred muscles: Vastus lateralis, gastrocnemius.
   56

 

1. Chest X-ray
2. ECG
3. Lung function test

 

1. Respiratory insufficiency: Restrictive lung disease, recurrent chest infection, cor pulmonale, respiratory failure.
2. Cardiomyopathy
3. Obesity
4. Constipation
5. Urinary problems like incontinence

 

1. Mental retardation
2. Macroglossia
3. Cardiomyopathy
4. Dilatation of stomach
5. Intestinal obstruction

 

1. Physiotherapy: Stretching the muscles to counter contractures, exercises for augmenting strength, chest physiotherapy.
2. Occupational therapy
3. Equipments
4. Orthopedic surgery: Elongation of tendo Achilles, scoliosis correction.
5. Steroid: Controversy exists regarding use of steroid and duration of therapy. Prednisolone 1–2 mg/kg/day may be used.
6. Vitamin E supplementation
7. Genetic counseling
8. Myoblast transfer: Injecting suspension of viable and fusion competent normal myoblasts into the muscle of the patients.
9. Genetherapy: Adenovirus
10. Management of complications: Cardiac, respiratory.

 

1. Spina bifida occulta: Failure of dorsal portion of vertebra to fuse. The overlying skin is intact, there may be tuft of hair, 58pigmentation or lipoma over the defect. The patients are usually asymptomatic.
2. Meningocele: Meninges protrude through the posterior vertebral defect. Neural tissue is not involved. Usually neurodeficit is not present.
3. Myelomeningocele: Defective closure of posterior neuropore. Both meninges and neural tissue protrudes. This is the severest form of dysraphism.
4. Encephalocele: A midline cranial defect.
5. Anencephaly: Defective closure of anterior neuropore.
6. Holoprosencephaly: Defective cleavage of embryonic forebrain where brain is single lobed.

 

1. Paraplegia or paraparesis
2. Swelling at the back
3. Convulsion, large head
4. Bladder and bowel dysfunction
5. Sensory involvement.

 

1. Watery discharge from the swelling at the back: Suggestive of CSF leakage.
2. Features of raised ICT: Vomiting, altered sensorium, convulsion, increase in head size.
3. CNS infection: Fever, altered sensorium, convulsion.

 

1. Drug ingestion during pregnancy. Like valproate or alcohol.
2. Radiation exposure during pregnancy.
3. History of gestational diabetes, polyhydramnios, IU infection.

   

1. Anthropometry
2. Spontaneous activity and cry
3. Posture
4. Vital signs, BP should be measured
5. Skin changes and neurocutaneous markers.

 

1. Higher function
2. Cranial nerves
3. Ocular muscles may be affected secondary to raised intracranial pressure
4. Motor system
5. Movement, tone, power specially of lower limbs
6. Sensory
7. Level of sensory lesion
8. Reflexes.

     

1. X-ray:	Spine for detection of vertebral anomaly Hips: CDH may be associated.
2. USG:	Brain in infants Hips: CDH may be diagnosed.
3. CT scan or MRI brain and spine.
60
4. Other investigations: Infection and sepsis screen Renal anomaly and function: USG, IVP, MCU.

       

1. Physiotherapy
2. Occupational therapy
3. Orthoses
4. Surgical correction of deformities
5. Aids in movement
6. Prevention of pressure sore

 

1. Care for bladder dysfunction
2. Bowel function

 

1. Shunt surgery
2. Seizure control
3. Shunt complications

 

1. Mental retardation
2. Social issues
3. Squint
4. Scoliosis

   

1. Maternal serum α-fetoprotein (msAFP) screening to identify presence of open neural tube defect in utero: done in 16–18 weeks of gestation. Fetal liver synthesizes this protein. From amniotic fluid a small amount of AFP leaks into maternal serum. It may be elevated in other conditions. Fetal ultrasonography and estimation of amniotic fluid acetyl-choline-esterase clinches the diagnosis.
2. Periconceptional folic acid supplementation: Folic acid 4 mg per day for at least one month prior to conception to 3 months post conception reduces the risk.

             

1. Type II Chiari malformation
2. Meningitis
3. Aqueductal stenosis

   

1. Increasing size of head since days/months/years or since birth
   63
2. Features suggestive of increased intracranial tension like vomiting, headache
3. Sensorium: Irritable/depressed sensorium/unconscious
4. Convulsion and movement disorders
5. Weakness or paralysis of limbs and abnormal gait
6. Movement of eyes and blindness sudden or progressive
7. Bladder and bowel dysfunction
8. Sensory lesion.

 

1. Suggestive of meningitis tuberculous or bacterial
2. Suggestive of neural tube defect
3. Brain surgery
4. Trauma.

 

1. Intrauterine infections
2. Radiation exposure.

 

1. Prematurity
2. Suggestive of perinatal infection.

   

1. Alertness, interaction and interest in surrounding.
2. Vital parameters
3. Dysmorphic features
4. Neurocutaneous markers
   64

   

1. Size: Macrocephaly is diagnosed when head circumference is above 2 standard deviations of the expected mean for age, sex, height and weight. It is important to remember the velocity of head circumference as described in Table 1.11.1.

   Table 1.11.1   Velocity of head circumference Birth : 35 cm 0 to 3 months : 2 cm/month = 6 cm 41 cm 3 months to 1 year : 2 cm/3 months = 6 cm 47 cm 1 to 3 years : 1 cm/6 months = 6 cm 53 cm 3 to 5 years : 1 cm/12 months = 2 cm 55 cm

   Measuring parents’ head circumference is often useful, specially when familial macrocephaly is considered.
2. Shape: It is wise to avoid the different terminologies used to describe abnormal head shapes such as dolicocephalic, mesocephalic. It may invite unnecessary questions. It is better to describe as increased anteroposterior diameter, frontal bossing.
3. Sutures: In infants sutures may be separated in raised intracranial pressure. Two fontanels are commonly palpated, anterior and posterior fontanel. Normal feel of fontanel is slightly depressed and pulsatile. It is best examined when the infant is held upright, is asleep or feeding. The diagonal or transverse diameter is measured. The anterior fontanel measures 2 cm by 2cm and it closes between 9 and 18 months, posterior fontanel closes between 6 and 8 weeks. Persistence of posterior fontanel is due to hydrocephalus and congenital hypothyroidism.
4. Skin: In hydrocephalus, skin is shiny, tense. The superficial veins may be visible. Transillumination test is done with a clinical torch fitted with a rubber ring. It is placed over the skull. Normally, a 65halo of 1 cm is seen in occipital region and 2 cm in frontal region. In hydrocephalus it is increased.
5. Sound: The soft skull bones can be indented, known as craniotabes. This is normal finding in preterm infants. The other causes are hydrocephalus, rickets, congenital syphilis, osteogenesis imperfecta, hypervitaminosis A. Percussion over the skull with one finger produces cracked pot sign. Auscultation over temporal fossae, eyeballs and retroauricular region may reveal bruit in arteriovenous malformations.
6. Shunt: The location of shunt and the shunt tubing should be traced and followed up to the drainage site in chest (VA shunt) or abdomen (VP shunt).
7. Sunset sign: It is due to paralysis of upward gaze center in tectum of midbrain due to pressure effect. The other causes are pineal tumor and cyst in pineal region.
8. Squint: Usually 3rd and 6th cranial nerve palsy. There may be ptosis and dilated pupil (3rd cranial nerve palsy), impaired visual acuity (optic nerve atrophy and other optic nerve pathology, retinal hemorrhage), corneal clouding (mucopolysaccharidosis), cataract (congenital toxoplasmosis), proptosis (intracranial tumor, orbital mass, secondaries). Fundus should be examined for papilledema, optic atrophy, retinal hemorrhage, chorioretinitis.
9. Spine: Neural tube defect including postoperative scar.

 

1. Neonatal reflexes
2. Motor system: Extent of neurodeficit, level of lesion in paraparesis.
3. Sensory involvement
4. Gait

   

1. Skull X-ray:
   Signs of raised intracranial pressure:
   1. Separation of cranial sutures
   2. Thinning of skull bones
   3. Lacunae in the cranium
   4. Demineralization of dorsum sellae and shallow sella turcica
   5. Erosion of posterior clinoid process
   6. Silver beaten or copper beaten appearence
2. USG brain when fontanel is open
3. CT scan, MRI
4. EEG

   

1. Reduction in CSF formation
   1. Acetazolamide 20 mg/kg/day 8 hrly
   2. Frusemide 1–2 mg/kg/day 8 hrly
2. Reduction in brain water
   1. Osmotic diuretics
   2. Mannitol 1 gm/kg
3. Thrombolytics
   1. Urokinase
   2. Streptokinase
4. CSF removal
   1. Serial/continuous lumbar drainage
   2. External ventricular drainage
   3. CSF reservoir for aspiration.

 

1. Removal of CSF source: Choroid plexectomy
2. Bypass block
3. CSF shunt: VA, VP(Chhabra, Holtz-Prudence), LP
4. Removal of block: Tumor, mass.

 

1. CNS infection
2. Blood in CSF
3. Obstructive cause
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4. Poor outcome
5. Asymptomatic and non-progressive.

 

1. Infection: Usually the ventriculitis is caused by Staph. epidermidis, E. coli. The treatment is either cloxacillin or vancomycin with or without cephalosporin.
2. Shunt block.

   

1. Achondroplasia
2. Chronic hemolytic anemia
3. Cleidocranial dysostosis
4. Hyperphosphatemia
5. Osteogenesis imperfecta
6. Osteopetrosis
7. Pyknodysostosis
8. Rickets

 

1. Anatomical
   1. Genetic megalencephaly
   2. Achondroplasia
   3. Gigantism (Sotos syndrome)
   4. Neurocutaneous disorders: Neurofibromatosis, tuberosclerosis, etc.
2. Metabolic
   1. Alexander disease
   2. Canavan disease
   3. Gangliosidosis
   4. Metachromatic leukodystrophy
   5. Mucopolysaccharidosis.
3. Localized
   Cerebral tumor, abscess.

 

Table 1.11.2   Causes of hydrocephalus Non-communicating Communicating Congenital 1. Aqueduct obstruction 2. Dandy-Walker 3. Congenital cyst 1. Chiari malformation 2. Encephalocele 3. Achondroplasia Acquired 1. Aqueduct stenosis 2. Inflammatory 3. Mass lesion 4. Neoplasm 1. Infective (Meningitis) 2. Inflammatory 3. Post-hemorrhagic 4. Mass lesion 5. Choroid plexus papilloma

     

1. Passive ultrafiltration of plasma,
2. Active transport of sodium.

     

1. Vasogenic edema: Produced by increased capillary permeability. The causes are brain tumor, abscess, trauma and hemorrhage. The fluid is located primarily in the white matter. It responds to treatment with corticosteroids. Osmotic agents have no effect.
2. Cytotoxic edema: Produced by swelling of neurons, glia and endothelial cells. Consequently it constricts the extracellular space. The causes are hypoxia, ischemia and CNS infection. Osmotic agents decrease edema by reducing brain volume. Corticosteroids are not effective.
3. Interstitial edema: Produced by transependymal movement of fluid from ventricular system to brain. It occurs when CSF absorption is blocked and ventricles are enlarged. The fluid collects in the periventricular white matter. Drugs that reduce CSF production such as acetazolamide, frusemide are useful. Corticosteroids, osmotic agents are not effective.

 

1. Monitoring intracranial pressure: The symptoms and prognosis of increased intracranial pressure depend more on its cause than on the level of pressure attained. Head injury is the most common indication for monitoring.
2. Head elevation: 30–45° elevation of head above horizontal plain decreases intracranial pressure by improving jugular venous drainage. Systemic blood pressure is not affected, so the overall result is increased cerebral perfusion.
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3. Hyperventilation: The mechanism of reduction of intracranial pressure is vasoconstriction due to hypercarbia. The goal is to lower pCO₂ to 25–30 mmHg. Further reduction may cause ischemia.
4. Osmotic diuretics: Mannitol 20% infusion 0.25–1 gm/kg is the commonest osmotic diuretic used. It acts as plasma expander and osmotic diuretic.
5. Corticosteroids: Dexamethasone 0.1–0.2 mg/kg every 6 hours is effective in the treatment of vasogenic edema. The onset of action is 12–24 hours or longer.
6. Hypothermia: It decreases cerebral blood flow. Body temperature is kept between 27° and 31°C.
7. Phenobarbital coma: In high doses barbiturates reduce cerebral blood flow, decrease edema and lower brain's metabolic rate. The dose should be such that its brain concentration is sufficient to produce burst-suppression pattern on EEG.

   

1. Most of the times parents complain of small head size. Sometimes parents even fail to notice due to overall poor health of the child.
2. Delayed milestones are most often associated.
3. Convulsion.
4. Suggestive of cranial nerve involvement.
5. Other neurological manifestations.

 

1. Mother's fever with rash suggestive of intrauterine infection.
2. Radiation exposure.
3. Complicated pregnancy like diabetes mellitus, hypertension.

 

1. Birth asphyxia with resultant hypoxic ischemic encephalopathy.
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2. Suggestive history of intrauterine infection: Convulsion, jaundice, petechiae.
3. Perinatal herpes simplex encephalitis, bacterial meningitis.

 

1. Head injury
2. Malnutrition
3. Hypothyroidism
4. Inborn errors of metabolism

 

1. Small head in the family
2. Consanguinity

     

1. Sutures: Scars and visible ridging along suture line in cranio-synostosis.
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2. Fontanels: Though early closure is usual, but fontanel may remain open in Down syndrome, congenital rubella and hypothyroidism.

 

1. Cranial nerve examination specially vision and hearing. Hearing may be impaired in congenital infections.
2. Neurological: Thorough examination is mandatory. Posture, gait and movements should be examined in older children. In infants, 180° examination may be done.

       

1. Skull X-ray:
   1. Early closure of sutures
   2. Periventricular cerebral calcification in CMV infection and diffuse calcification in toxoplasmosis
   3. Signs of raised intracranial pressure
   4. Fontanels.
2. CT scan and MRI:
   1. Cerebral pathology like grey matter, white matter changes, evidence of perinatal asphyxia. Here MRI is more useful.
   2. Bony structure, sutures, calcifications. CT scan is more useful.
3. Serology:
   1. Intrauterine infections should be excluded by TORCH screening
   2. HIV screening
   3. Thyroid profile for congenital hypothyroidism
   4. Phenylketonuria.
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4. Metabolic disorders screening.
5. Chromosome analysis.
6. Urine study for metabolic disorders.
7. CSF analysis.
8. Ophthalmic examination: For cataract, glaucoma, corneal opacity, chorioretinitis, optic atrophy, visual field defects.

           

1. Microcephaly vera (genetic): It decreases the bulk growth of brain. Transmitted as AR. Characteristically disproportion in size between face and skull. The forehead slants backward, chin is small. Mental retardation is moderate to severe.
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2. Chromosomal disorders: Usually microcephaly is not evident at birth and manifests in infancy. Hypotonia and dysmorphism are the prominent features.
3. Defective neuronation: Anencephaly and encephalocele.
4. Defective proencephalization: Corpus callosum agenesis, holo-procencephaly.
5. Defective cellular migration: Agyria, heterotopia, lissencephaly, pachygyria.

   

1. Intrauterine disorders: Infections, toxins, vascular.
2. Perinatal brain injury: Hypoxic ischemic encephalopathy, intracranial hemorrhage, meningitis, stroke.
3. Postnatal systemic diseases: Chronic cardiopulmonary disease, chronic renal disease, malnutrition.