Section Outline |
■ OPD Problems—Normal or Abnormal? | ■ Jittery Neonate |
■ Role of Growth Charts | ■ Late Onset Cyanosis |
■ Foremilk Syndrome | ■ Sudden Deterioration |
■ Assessing ‘Risk Factors’ for Significant Jaundice | ■ Interpreting Sepsis Screen |
■ Interpreting Bilirubin | ■ Treating Sepsis or Meningitis? |
■ Cholestasis | ■ Nonbacterial Sepsis |
■ Role of Intravenous Immunoglobulin (IVIG) | ■ Neonatal Encephalopathy |
■ Vomiting Neonate | ■ Bleeding Neonate |
■ Dehydration in a Neonate | ■ Newborn Screening |
■ Importance of Second Heart Sound | ■ Using Propranolol |
CASE 1: OPD PROBLEMS—NORMAL OR ABNORMAL?
CLINICAL PRESENTATION
You are asked to evaluate in well baby clinic the following patient concerns.
Case 1A: Tongue Tie (Fig. 1)
Discussion
True tongue tie is a very rare condition. To some extent tongue tie is normal in every newborn baby and it rarely interferes with either sucking or later speech development. The tongue tie diagnosis rests primarily on observation and analysis of feeding difficulties rather than the static appearance of the tongue. There is no justification for actively searching for tongue tie during routine examination, but when mothers are having difficulty in breastfeeding this should be considered as one of several possible causes. Frenotomy is indicated only when there is associated breastfeeding difficulty.
Case 1B: Preauricular Tag (Fig. 2)
Discussion
Preauricular tags are common minor congenital anomalies. In isolation they do not appear to be pathological. However, one should look for presence of other congenital anomalies and, if present, must screen for hearing by otoacoustic emission (OAE) and genitourinary anomalies by means of ultrasound study. In isolated preauricular tags or sinuses one need not do any further evaluation. One must consider hearing evaluation in such infants.
Case 1C: Newborn has been Referred for Ruling Out Hydrocephalus. He has Setting Sun Sign (Fig. 3)
Discussion
Setting sun sign is due to enlarged ventricles. The classical signs of hydrocephalus are increased head circumference, sutural separation, wide and tense anterior fontanel. All signs together suggest hydrocephalus. None of these signs in isolation is diagnostic of hydrocephalus. Infants up to 3 months of age have setting sun sign due to immaturity of upward gaze eye muscles. If the head circumference is normal, setting sun sign may be physiological. No evaluation is needed. Follow-up of head circumference is the only evaluation needed.
Case 1D: Parents are Concerned about Bowing of Lower Limbs (Fig. 4)
Discussion
Bowing of legs in isolation in a well growing baby is a physiological finding. Since the majority of babies are born headfirst, they spend the last weeks in the uterus with their legs crossed and folded against their abdomen. This results in a bowing of the still very soft fetal leg bones. This usually disappears by 2 years of age.
Case 1E: Absence of One Testis in the Scrotum
Discussion
Testis should be normally palpable in both the scrotum at term. Inability to palpate testis in scrotum may indicate abnormal descent of testis. Many a times the testis is retractile and just below the deep inguinal ring and can be coaxed into the scrotum. The position of testis is normal and does not warrant further evaluation. However, testis in the inguinal canal or absent testis needs surgical consultation.
Case 1F: Inability to Retract the Prepuce and Scheduled for Circumcision
Discussion
Phimosis is inability to retract the prepuce leading to urethral obstruction. Physiologically up to 2 years the prepuce is non-retractile and no attempt should be made to forcible retract it. This is a physiological finding and does not merit evaluation or surgical intervention.
Case 1G: Cortical Thumb (Fig. 5)
Discussion
Cortical thumb is adduction of thumb with the palms. It is considered as a soft marker for neurologic abnormality and suggests possibility of underlying central nervous system (CNS) pathology. However, in first 3 months, bilateral cortical thumb is physiological and does not merit further evaluation. Persistence of cortical thumb is pathological beyond 3 months of age.6
Case 1H: Simian Crease (Fig. 6)
Discussion
A single transverse crease of the hand is called simian crease. It is most commonly seen in Down's syndrome. Presence of isolated simian crease is not pathological; up to 5% of normal newborns may have it. At times it may be familial. Dysmorphic features with generalized hypotonia are pathognomic of Down's syndrome. Isolated simian crease warrants no genetic testing.
LEARNING POINT
Certain clinical findings raise false alarm in newborns. Interpretation of these signs in isolation may lead to unnecessary referral or investigations.
CASE 2: ROLE OF GROWTH CHARTS
CLINICAL PRESENTATION
Case 2A
Term baby delivered at 2.9 kg had a small appearing head; head circumference was 30.5 cm. Concerns were expressed to the family. A magnetic resonance imaging (MRI) was planned, but parents preferred to wait for 2 weeks. Two weeks later the baby's head circumference was tracking on the same 3rd centile line. The grandmother who accompanied also had a small head. The baby was followed to 2 years age; the head remained small; tracking the 3rd centile line on the growth chart. The baby's development was normal.
Case 2B
Term baby 2.2 kg at birth, had a head circumference of 34 cm; length of 45 cm. The baby was labeled as intrauterine growth restriction (IUGR) by the unit on discharge record. Baby continued to grow 7as a small infant and was seen at development clinic at 10 months age for failure to thrive and development delay. On plotting the growth chart, the baby's weight although low was tracking the birth centile and the length also kept the line. The parents had a short stature as well. The head circumference was still over 50th centile. All milestones other than gross motor were normal: baby was not sitting well without support. Neurological examination was normal. Family was reassured. At 3 years the child was normal in development.
DIAGNOSIS
Small/big head.
INVESTIGATION
Growth chart.
DISCUSSION
Case 2A
Head circumference is a well-known marker for brain growth and values out of range cause grave concern. But, it should not be evaluated in isolation. Serial records are more important. Values of head circumference must be compared with length centiles (Dine's formula). Dine's formula: the relationship between length and head circumference can be expressed by the simplified formula.
Head circumference (centimeters) = 0.5 length + 9.5 ± 2.5 (accurate for first year of life)
In the first case, if the head circumference was static or was slower on the growth chart than weight or length, then a diagnosis of small head is worrying.
Case 2B
We commonly see babies with small stature having ‘normal head circumference’ which is relatively large for weight and length. Such babies incorrectly get investigated for failure to thrive (FTT) or large head. If growth chart is serially marked, one will find all the three parameters tracking. The skin fat thickness (clinical assessment) is a good way to exclude FTT. Also, when head is relatively large and body small, the center of gravity is high and the infants take longer time to achieve milestones like head control, sit stand, etc.
There are many growth charts available. World Health Organization (WHO) growth charts are currently recommended all over the world.
CLINICAL PEARL
Head circumference is to be interpreted after serial recording and in comparison to length centile. Have a look at the family before making growth interpretations.
LEARNING POINT
Growth chart is a powerful and inexpensive tool. Monitoring of growth [weight, occipitofrontal circumference (OFC) and length, not just weight] at every visit is the duty of a pediatrician and is possibly the simplest tool that assures that no major medical illness is missed. Faltering growth must be investigated. Head circumference and weight, both must be interpreted against length.8
CASE 3: FOREMILK SYNDROME
CLINICAL PRESENTATION
A 20-day-old newborn was brought to outpatient department (OPD) for the 3rd time with many complaints. Baby passes motion frequently with every feed and few drops of motion with every cry, cough and otherwise. Baby regurgitates small amounts of milk often and is cranky most of the time. Mother gives history that baby is sucking vigorously, but, only for few minutes, goes off to sleep and demands after an hour again. The baby's perianal area is red and ulcerated (Fig. 7).
TREATMENT AND FOLLOW-UP
Mother is educated that 1st milk (foremilk) is rich in ‘sugars’ and has short gastric emptying time, baby gets hungry frequently, but frequent feeding finds the baby with only little hunger. Baby sucks for a short while (<10 minutes) and gets only foremilk. Drinking only foremilk is the cause of frequent stool and regurgitation.
Mother gradually spaces the feeds to 2.5–3 hours, feeds the baby for 15 minutes from one breast in one sitting. The baby's symptoms rapidly improve.
DIAGNOSIS
Foremilk syndrome.
INVESTIGATION
Good history.
DISCUSSION
Educating mothers on lactation by demand than by schedule, from one breast in one sitting and recognizing that every cry is not hunger is very important.
CLINICAL PEARL
At the age of 2–3 weeks, babies should settle to a rhythm of feeding at 2–3 hours interval.
LEARNING POINT
Hindmilk is important for weight gain and is possibly a cure for ‘colic’.
CASE 4: ASSESSING ‘RISK FACTORS’ FOR SIGNIFICANT JAUNDICE
CLINICAL PRESENTATION
At 72 hours, 34–36 weeks boy (2.4 kg) born to primigravida, mother's blood group A Rh +ve, uneventful spontaneous delivery, is brought to OPD for yellow eyes. His elder brother needed phototherapy for jaundice in neonatal period. He is breastfed and offered formula feeds at night. He weighs 2.2 kg. He appears alert, active, with stable vital parameters. Jaundice appears to be up to trunk. There is no local or systemic problem identified. Since the extent of jaundice is not much parents are assured and asked to come for vaccination.
He is brought 48 hours later with jaundice up to palms and soles. Total serum bilirubin (TSB) is 20 mg% and requires intensive phototherapy. Bilirubin drops to 16 mg% with phototherapy and lactation assistance. He recovers by day 7 to be discharged.
INVESTIGATIONS
Total serum bilirubin 20 mg%, direct Coombs test (DCT) –ve, sepsis screen negative, peripheral smear showed no abnormality, retic count 2%.
DIAGNOSIS
Severe pathologic indirect hyperbilirubinemia of multifactorial etiology.
DISCUSSION
This newborn delivered in hospital and seen by a pediatrician ended up with severe jaundice as systematic evaluation of jaundice was not done. Neonatal jaundice estimation is clinical and risk factor based.
All newborns should be examined for jaundice at every opportunity, especially in the first 72 hours. Jaundice is assessed by inspecting the baby's skin, sclera or mucous membranes preferably in natural light. The skin is blanched by digital pressure over bony parts to reveal underlying yellowing. It must be realized that visual examination is not reliable especially in dark pigmented babies, preterms and in babies receiving phototherapy.
Breastfeeding insufficiency predisposes to development of jaundice. It should be suspected if there is a delay in the elimination of meconium, fewer than three evacuations per day, and presence of meconial feces on the third or fourth postnatal day, decreased urinary flow, or weight loss greater than 5–7% on the third day after birth. Decreased caloric intake, inhibition of hepatic excretion of bilirubin and an increase in intestinal absorption of bilirubin (enterohepatic circulation) are suggested mechanisms for the hyperbilirubinemia associated with breastfeeding.
This case had many of these risk factors which predisposed to developing significant jaundice, e.g. late preterm, low birth weight (LBW), primigravida, weight loss and jaundice requiring treatment in elder sibling.10
Risk factors are often overlooked and opportunity for timely intervention to prevent severe jaundice is missed. Table 1 lists the Pre-discharge checklist for jaundice. One should do transcutaneous or serum bilirubin in a baby with risk factors seen on D3-D4.
CLINICAL PEARL
All babies with jaundice should have evaluation for breastfeeding adequacy.
LEARNING POINT
All newborns should be assessed for presence of risk factors for jaundice at the time of discharge. Relying only on clinical estimation of jaundice is misleading.
CASE 5: INTERPRETING BILIRUBIN
CLINICAL PRESENTATION
Male baby of 48 hours old (2.4 kg) was brought with yellowishness by parents. Baby was delivered at 34–36 weeks of gestation to primigravida by spontaneous, uneventful vaginal delivery. Baby was discharged by 12 hours from hospital, given Bacillus Calmette-Guerin vaccine/oral polio vaccine (BCG/OPV) and breastfed.
EXAMINATION
Baby was near term, alert, active, stable vital parameters with jaundice up to trunks. There was no pallor, plethora, rash, cephalhematoma or foul discharge. There was no organomegaly, high colored urine and no significant weight loss. Breastfeeding appeared to be well. On parent's insistence total serum bilirubin was done which came 9 mg% (48 hour age). Parents were assured and asked to follow-up for vaccination. After 48 hours, the baby was brought with poor feeding and noticed to have jaundice up to soles with opisthotonus posturing and shrill cry. Moro's was sluggish.11
INVESTIGATIONS
Baby blood group was A +ve, mother O +ve, hemoglobin (Hb) 15 mg%, counts within normal limits, TSB −22 mg%, Retic count −4%, DCT negative, peripheral smear showed no abnormality.
TREATMENT AND FOLLOW-UP
In view of bilirubin encephalopathy, urgent double volume exchange transfusion was done and intensive phototherapy continued. Trend in fall of bilirubin was noted. Tone cry and activity improved by day 3.
DIAGNOSIS
Bilirubin encephalopathy secondary to ABO blood group incompatibility in near term and LBW.
DISCUSSION
All health care providers should be vigilant about jaundice in first week of life. Clinical evaluation of jaundice is misleading and when in doubt serum bilirubin should be estimated. This newborn had no maternal blood group known, was interpreted in bilirubin value (9 mg%) in isolation, bilirubin was not interpreted looking at age in hours and the interpretation did not look at risk factors (near term, primigravida, ABO incompatibility).
Analyzing the baby as per American Academy of Pediatrics (AAP) Guidelines for Neonatal Hyperbilirubinemia (Table 2), at 48 hours the baby was in high-risk group with bilirubin in phototherapy range was ignored. In setting of ABO incompatibility and prematurity the jaundice increased significantly leading to bilirubin encephalopathy which was despite having seen by pediatrician in a hospital delivery which was essentially preventable.
CLINICAL PEARLS
- Do not rely on bilirubin value alone in evaluating baby with jaundice. Interpret bilirubin in relation to risk factors. Jaundice is usually multifactorial.
- Interpret bilirubin levels according to the infant's age in hours and not by its value.
|
LEARNING POINTS
- Jaundice is a preventable and treatable cause of mental retardation.
- Use AAP charts for jaundice management (after 24 hours in >35 weeks of gestation).
Source: Access at http://pediatrics.aappublications.org/content/114/1/297.full
CASE 6: CHOLESTASIS
CLINICAL PRESENTATION
A 22-day-old baby was brought to pediatrician with yellow appearance and yellow urine. Baby was referred as possible biliary atresia, and a poor prognosis and need for surgery was explained to family by the referring doctor. Baby was admitted and investigated for curable causes of cholestatic jaundice. Apart from cholestasis there were no organomegaly, dysmorphism, bleeding diathesis, rash, pallor, external anomaly or clay stools. Baby's bilirubin values were total 22 and direct 12 mg/dL. Blood and urine culture were sent. Liver enzymes, paired sera of IgG for toxoplasma, cytomegalovirus (CMV) were planned. Thyroid test, venereal disease research laboratory test (VDRL) and ultrasonography (USG) of abdomen were normal. Fundus revealed no chorioretinitis.
TREATMENT AND FOLLOW-UP
Baby's blood and urine culture grew Klebsiella sensitive to Meropenem [baby had no history of fever and c-reactive protein (CRP) was borderline 12 mg/dL]. Baby was started on Meropenem after a lumbar puncture was performed. Cerebrospinal fluid (CSF) examination was not suggestive of meningitis. Baby was treated with antibiotics for 14 days. The cholestatic jaundice improved and baby was discharged healthy.
DIAGNOSIS
Prolonged jaundice—urinary tract infection.
INVESTIGATIONS
Neonatal jaundice—prolonged.
- Ultrasound biliary tract—look for gallbladder (absence is suggestive of atresia or dilated biliary tree is suggestive of atresia)
- Blood and urine culture
- Urine reducing substances (Benedict's method positive and uristix negative) for galactosemia
- Thyroid function test
- VDRL for syphilis
- Liver function test
- CMV and toxoplasmosis.
DISCUSSION
Cholestatic jaundice and prolonged jaundice are emergencies. Biliary atresia must be diagnosed and operated early preferably by one month of life. Investigations must be directed to curable conditions.13
CLINICAL PEARL
Bacteremia/sepsis may be present even in absence of overt clinical signs like fever/lethargy.
LEARNING POINT
Always exclude occult sepsis as a cause of prolonged jaundice (especially if weight gain is poor).
CASE 7: ROLE OF INTRAVENOUS IMMUNOGLOBULIN (IVIG)
CLINICAL PRESENTATION
Rh positive baby was delivered to an isoimmunized Rh negative mother. The previous baby had jaundice requiring exchange transfusion and mother was found to be indirect Coombs test (ICT) positive and baby DCT positive. The index baby was investigated at birth. The bilirubin was 5 mg/dL and Hb 11 gm/dL and DCT was positive. Baby was started on intense phototherapy. Baby's bilirubin and hemoglobin were repeated after 3 hours. The bilirubin rapidly increased to 10 mg/dL and Hb dropped to 8.5 gm/dL. Baby was started on IVIG 500 mg/kg over 4 hours. Rh negative blood was arranged for exchange, if the bilirubin would keep rising in spite of IVIG. Parents were informed that IVIG is a blood product, expensive, has the potential to decrease need for exchange transfusion and phototherapy.
TREATMENT AND FOLLOW-UP
Baby's bilirubin did not rise higher than 17 mg/dL and drop in Hb was noted to 8 gm/dL. Baby required phototherapy for 6 days. After 3 weeks, baby was followed up. Hemoglobin dropped to 6.8 mg/dL and baby required a top up transfusion. Family was advised to avoid live vaccines, oral polio drops and take inactivated poliovirus vaccine (IPV) instead, as live vaccines may be ‘neutralized’ by immunoglobulins transfused.
DIAGNOSIS
IVIG for Rh/ABO isoimmunization.
DISCUSSION
Intravenous immunoglobulin is an option to be used when serum bilirubin is rising despite intensive phototherapy or the value is within the exchange transfusion range in antibody mediated hemolysis (Rh, ABO) settings. The benefits include decreased need for exchange transfusion, duration of phototherapy and hospital stay in infants with hemolytic disease. It is postulated to block the receptors (Fc receptors) in the reticuloendothelial system that bind to the antibodies that cause cell death and hemolysis. Late anemia requiring blood transfusion is not uncommon in incompatibility settings. Parents must be educated regarding modifications of vaccines.
CLINICAL PEARL
Monitoring of bilirubin is frequently required in jaundice of early onset (<36 hour). In settings where exchange transfusions is being contemplated or cannot be performed, IVIG is a useful therapy.14
LEARNING POINT
Intravenous immunoglobulin reduces the need for exchange transfusion in ABO/Rh settings of incompatibility.
CASE 8: VOMITING NEONATE
CLINICAL PRESENTATION
Healthy born baby had few episodes of vomiting after discharge to home. Baby was found to be well and family reassured and sent home. Baby was admitted at parent request on the next day. Baby appeared well except a suspicious history of bilious vomiting and intermittent fussiness and tachycardia up to 180/minute. The unit presumed this to be due to the baby being hungry, as there was no abdominal distention and baby had passed stools. X-ray of abdomen was ‘normal’ and surgeon advised a stomach wash and planned a barium study next morning if vomiting persisted.
At night, the baby's abdomen progressively got distended, baby had persistent tachycardia and an episode of bile stained vomiting. Arterial blood gas (ABG) showed severe metabolic acidosis, antibiotics were changed, ductus dependant lesions of heart or in born errors suspected. Echocardiography (ECHO) was normal and screening tests for inborn error of metabolism (IEM): blood and urine were sent. The USG abdomen gave a clue to malrotation and the baby rushed for surgery and found to have malrotation of bowel and volvulus. Baby recovered thereafter.
DIAGNOSIS
Malrotation of Gut
Differential diagnosis of a baby with acute deterioration in health with abdominal distention can be sepsis, shock due to ductus dependant lesion, etc. High order of suspicion and an early barium study may clinch the diagnosis. In our case, barium study was delayed.
INVESTIGATIONS
The normal position of the duodenojejunal junction is to the left side of the left pedicles of the vertebral bodies at the level of duodenal bulb in the frontal view and posterior placed (retroperitoneal) on the lateral view.
Plain X-ray may show intestinal obstruction.
Ultrasound can show abnormal direction of superior mesenteric vessels.
DISCUSSION
Malrotation of gut is a developmental abnormality, the gut fails to rotate and the duodonojejunal junction which should go behind the superior mesenteric vessels remains anterior and is attached with a narrow pedicle on which it can twist and lose blood supply. Early surgery, release of the abnormal connection can save a life and the child has a normal life thereafter.
CLINICAL PEARL
If a parent says vomiting is significant or persistent (suspected bile), detailed examination, observation for clinical signs, and even a barium study is indicated.15
LEARNING POINT
Bilious vomiting with non-distended abdomen is malrotation unless proved otherwise. Barium study is extremely helpful in diagnosis of malrotation—a life threatening emergency with limited clinical clues.
CASE 9: DEHYDRATION IN A NEONATE
CLINICAL PRESENTATION
A healthy boy baby started having frequent vomiting on day 20 of life. Family was reassured that this is normal. Parents visited another doctor who treated with domperidone suspension considering parent anxiety and explained as gastroesophageal reflux disease (GERD). Symptoms were persisting; they were referred to a surgeon. Ultrasound abdomen was performed for hypertrophic pyloric stenosis and barium study for possible obstruction; they were not suggestive of any surgical condition. The baby landed in the emergency room 10 days later with severe lethargy, referred as inborn error of metabolism (IEM). Baby appeared dehydrated, had deep breathing, had lost 800 grams weight, but still passed plenty of urine in the hospital. X-ray showed a small appearing heart.
TREATMENT AND FOLLOW-UP
A clinical diagnosis of congenital adrenal hyperplasia (CAH) was suspected based on severe dehydration (in the absence of diarrhea or vomiting sufficient to cause such severe weight loss), acidotic breathing and drowsiness. Examination of genital area showed hyperpigmentation. Baby's serum sodium was 112 and potassium was 8. Blood sugar was 60 and blood pressure was normal. Baby was resuscitated with normal saline and started on hydrocortisone and fludrocortisone for very low sodium. Fluid free of potassium was ensured and potassium binding resin for severe hyperkalemia was started. In 2 days, the baby gained 400 grams weight, the sodium returned to 130 and the potassium normalized. Baby's vomiting stopped. Baby was discharged after 10 days on maintenance doses of hydrocortisone and fludrocortisone and oral saline and a ‘crisis card’.
DIAGNOSIS
Congenital adrenal hyperplasia.
Differential diagnosis of vomiting and weight loss in neonate:
- Hypertrophic pyloric stenosis
- Occult infections—urinary tract
- Inborn errors of metabolism
- Gastroesophageal reflux disease.
INVESTIGATIONS
The combination of low sodium and high potassium is characteristic of adrenal insufficiency. Ultrasound abdomen showed normal urinary tract and prominent adrenals.
Occasionally this combination may be due to pseudohyperaldosteronism (end organ resistance) and obstructive uropathy.16
DISCUSSION
Congenital adrenal hyperplasia is not an uncommon condition. The commonest form is due to 21 beta-hydroxylase enzyme deficiency resulting in decreased production of cortisol and aldosterone (Flow chart 1).
Inheritance is autosomal recessive (consanguineous marriage).
Neonatal screening can identify the condition in a presymptomatic stage. CAH can cause sudden death due to severe hyperkalemia, can present like the index case with polyuria, weight loss, hyponatremia and hyperkalemia. Associated hypoglycemia and hypotension may also be present. Affected girls may have severely virilized genitalia (all the steroid precursors are channelized to testosterone) and present as ambiguous genitalia at birth.
Early diagnosis is life saving, and long-term outcomes are excellent.
CLINICAL PEARL
Isolated vomiting is likely to be pathological and poor weight gain should be investigated.
LEARNING POINT
Simple lab tests—sodium, potassium must be a part of investigation of vomiting and weight loss. Hyponatremia and hyperkalemia is due to adrenal insufficiency most often.
CASE 10: IMPORTANCE OF SECOND HEART SOUND
CLINICAL PRESENTATION
A day 5 boy is brought for vaccination to OPD. He is well with no complaints. He was born to primigravida, with uneventful delivery and pregnancy. During routine auscultation you notice a single S2. No blood pressure gradient is evident between the upper and the lower extremities. Oxygen saturation in room air is 98% in the left upper extremity and 85% in the left lower extremity. Cardiovascular examination reveals a no appreciable murmur. The abdomen is soft, non-tender, and non-distended. The liver is palpable 2 cm. Lungs are clear and no retractions are noted. Other findings of the examination are within normal parameters. He is admitted to nursery.
INVESTIGATIONS
A chest radiograph shows clear lung markings and a normal cardiac silhouette. Sepsis screen, electrolytes and glucose study are normal. A hyperoxia test reveals a PaO2 of 150 mm Hg. Echocardiography demonstrates transposition of great vessels. He is shifted to cardiac center for correction.
DIAGNOSIS
Transposition of great vessels with pulmonary hypertension.
DISCUSSION
Differential cyanosis (decreased saturations of the lower extremities compared with the upper extremities) is a common presentation of persistent fetal circulation with pulmonary hypertension of the newborn. Normally the transition from fetal to adult circulation sets in by 48 hours. At times the pulmonary pressures persist to be elevated than the systemic pressures leading to persistent pulmonary hypertension of the newborn (PPHN). This could be primary due to abnormality in pulmonary vasculature or secondary to underlying lung, heart or systemic illness. The split in S2 parallels the transition from fetal to adult circulation.
Absence of S2 split, split of S2 within first 24 hours or loud S2 is abnormal and suggests underlying heart defect.
The hyperoxia test could not rule out cardiac disease because it needs to be higher than 150 mm Hg, so additional studies need to be performed. Its value is to rule out cardiac disease, not rule it in.
Ascertaining the splitting of S2 is a clinical skill that takes patience and astute skills.
LEARNING POINT
The assessment of second heart sound in newborns is one of the most accurate physical examination findings in children who have congenital heart defects.18
CASE 11: JITTERY NEONATE
CLINICAL PRESENTATION
A 6 hour, term (2 kg) newborn is admitted for persistent irritability. He was born to primigravida, vaginally but needed 1 minute of bag and mask support to establish breathing. In view of good weight and activity, the baby was shifted to the mother. Breastfeeding was attempted but was not satisfactory. Baby had passed urine and stool but was crying excessively.
On examination, the baby appears jittery. The movements persist despite attempt to restrain them. There are cyclic movements of limbs and starring of eyes. There is no evidence of birth injury, pallor, plethora, rash, meconium staining or foul smell. Heart rate (HR) was 160/min, respiratory rate (RR) 50/min with episodes of hyperventilation, T 36.5 C, cardiac resynchronization therapy (CRT) 2 second and mean noninvasive blood pressure (NIBP) 45.
TREATMENT AND FOLLOW-UP
Supportive care, oxygen and monitoring were initiated. Sepsis screen was sent. In view of persistent jitteriness and need for ventilation at birth, seizures secondary to perinatal hypoxic insult was thought of and loading dose of phenobarbitone (20 mg/kg) given. Seizures persisted for another 2 hours requiring loading dose of phenytoin. At this stage a B sugar done by glucostix was 15 mg%. A bolus of 2 mL/kg of 10% D was given and glucose infusion rate (GIR) calculated and infused. Sugar check after 30 minutes showed value of 45 mg%. Seizures stopped. Sugar check every 4 hours was continued for another 24 hours which was found to be normoglycemic. GIR was tapered and tube feeds introduced. By day 7, baby was breastfeeding, alert, active with no neuro deficit. Anticonvulsants were stopped at discharge.
DIAGNOSIS
Neonatal seizures due to transient symptomatic hypoglycemia in a small for gestational age (SGA) secondary to inadequate feeding with mild perinatal asphyxia.
INVESTIGATIONS
The low glucostix value was confirmed by blood sugar in lab. Sepsis screen and blood culture were negative. S calcium was normal.
DISCUSSION
Neonatal hypoglycemia (B glucose < 40 mg%) is the most common metabolic disorder in newborn. Hypoglycemia may be symptomatic or asymptomatic. The presentation is non-specific and it may be associated with other disorders like asphyxia, sepsis, polycythemia, meningitis, etc. LBW infants, SGA, preterms, infant of diabetic mother and all sick newborns are ‘at risk’ for developing hypoglycemia.
All ‘at risk’ newborns must have a regular screening for blood sugar at 2 hours postnataly. Hypoglycemia to cause seizures is a ‘missed opportunity’ as seizure occurs late with hypoglycemia.19
The goal should be to screen and detect during asymptomatic phase. The seizures may respond transiently to anticonvulsants giving a false security to recur again.
Treatment should not be delayed while one is awaiting confirmation of hypoglycemia by lab analysis. Blood sugar less than 20 mg% or symptomatic hypoglycemic newborns need intravenous correction. Blood sugar 20−45 mg% in asymptomatic newborn may respond to trial of feed with recheck sugar 1 hour later.
Hypoglycemic newborns are at risk of adverse neurologic sequelae.
Glucose infusion rate (mg/kg/min) is calculated from fluid requirement (mL/kg/day) and the percentage of dextrose (Fig. 8). For example, at 60 c/kg/d of fluids using 10% dextrose will give a GIR of 4 mg/kg/min. The fluid requirement of dextrose percentage may be changed to alter the GIR.
LEARNING POINT
There is no pathognomonic sign or symptom of hypoglycemia. All sick newborns and ‘at risk’ newborns must be monitored for blood sugar.
CASE 12: LATE ONSET CYANOSIS
CLINICAL PRESENTATION
A 30-day-girl (3.4 kg) was presented with noisy breathing, breathing and feeding difficulty noted since last 12 hours. Mother noticed bluish lips while feeding for the first time. She was born at term following uneventful pregnancy, delivery and was exclusively breastfed. There were no concerns so far.20
EXAMINATION
She appeared well grown. Temperature: 36.8°C, Respiration: 40/min, Pulse: 130/min and Oxygen saturation: 95% in air. There was stuffy nose with rhinorrhea. No increased work of breathing. Conducted sounds were heard on auscultation of the chest. Pulses and heart sounds were normal.
As she was not feeding well, a nasogastric tube was inserted and its position was confirmed. Over next few minutes the baby was found to have froth at mouth, gurgling, severe respiratory distress and cyanosis. The nurse called for help and did a quick suction and removed the feeding tube. By the time the doctor arrived the baby was crying vigorously, her color was pink and she had no respiratory distress.
The other nostril did not admit a 6 Fr nasogastric tube which clinched the diagnosis.
INVESTIGATION
The computer tomographic (CT) scan with 3 mm transverse sections is the preferred method to confirm a diagnosis of unilateral or bilateral choanal atresia. The composition (membranous or bony) and thickness of the atresia are assessed. The depth of the nasopharynx and any associated skull base anomalies are detected.
DIAGNOSIS
Apparently well grown with bluishness on feeding, with exacerbation following insertion of nasogastric tube with immediate relief with suction and immediate tube removal suggests a local structural cause leading to partial obstruction of upper airway, choanal atresia, nasal septal deformity, nasal foreign body or choanal polyp.
Newborns are obligate nose breathers; in this baby the nasogastric tube was blocking the only patent airway. When suction was done and the tube removed, the baby cried and the airway became patent again resulting in the resolution of cyanosis and respiratory distress.
Inability to insert nasogastric tube suggests the diagnosis of choanal atresia. Misting on to a cold spoon showed no misting from the other side nostril.
TREATMENT AND FOLLOW-UP
CT scan confirmed unilateral membranous choanal atresia. Parents were explained the nature and course of illness and how to keep airway patent by suction, positioning, normal saline nasal drops and taught basic cardiopulmonary resuscitation (CPR). Periodic visits were advised.
DISCUSSION
Choanal atresia is a congenital anomaly of the anterior skull base characterized by closure of one or both posterior nasal cavities. Approximately 60% of reported cases are unilateral. Unlike bilateral atresia, most unilateral cases are isolated anomalies.
Unilateral lesions can often go undiagnosed for long periods. When bilateral, choanal atresia manifests early with respiratory distress and needs immediate airway support. Unilateral lesions have persistent unilateral nasal drainage. Occasionally patients develop obstructive sleep apnea during infancy if the non-atretic side is not sufficiently patent. Careful questioning reveals an unusual susceptibility to upper respiratory symptoms. Parents often report elaborate rituals of pulling strands of mucus from their child's nose. Failure to pass a catheter through the occluded nostril can be misleading in the older child because there is enough space in the nasal cavity for the catheter to curl without passing into the nasopharynx.21
In cases where the skull base has a relatively normal shape and there are no cardiac contraindications to general anesthesia, bilateral choanal atresia is repaired shortly after birth. If there is associated obstructive sleep apnea, failure to thrive or respiratory distress, an early repair of a unilateral lesion may be indicated. Repair for unilateral lesion at around 2–3 years of age is generally accepted.
CLINICAL PEARL
Bluishness exacerbated by crying suggests cyanotic heart disease. Bluishness relieved on crying suggests choanal atresia.
LEARNING POINT
Persistent unilateral nasal discharge or unusual susceptibility to upper respiratory symptoms should raise suspicion of underlying upper airway abnormality (e.g. choanal atresia).
CASE 13: SUDDEN DETERIORATION
CLINICAL PRESENTATION
A 6-day-girl presented with history of poor feeding and episodes of bluishness of lips, fingers and toes since last few hours. She was born at full-term by spontaneous vaginal delivery following an uncomplicated pregnancy with a birth weight of 2.8 kg. She was discharged home on the second day of life, and has been breastfeeding well.
EXAMINATION
On examination she is pale and lethargic. Her weight is 3 kg, and she is tachypneic, has subcostal-intercostal indrawing with a respiratory rate of 80 breaths/min. Her heart rate is 180 beats/min and her capillary refill time is 5 seconds. Blood pressure (BP) was not appreciable in lower limb. Femoral pulses were not palpable. There is no murmur. She has a liver palpable to 4 cm below the costal angle. There is no dysmorphism or external congenital anomaly.
INVESTIGATIONS
Arterial blood gas showed metabolic acidosis with respiratory compensation. X-ray contrast media (XRC) showed mild cardiomegaly. 2D echocardiography confirmed the diagnosis of coarctation of aorta.
TREATMENT AND FOLLOW-UP
Abrupt deterioration in a well-baby is most commonly seen due to heart diseases like ductus dependant heart disease, hypoplastic left heart syndrome, transposition of great vessels or an arrhythmia. Features of weight gain, absent femorals with signs of congestive cardiac failure suggest coarctation of aorta. The baby was stabilized and prostaglandin infusion started to keep ductus patent. Surgical correction was done.22
DISCUSSION
Coarctation of aorta is the most frequently missed congenital heart defect. Many cases are not diagnosed till adulthood or death and frequently are mislabeled due to sepsis.
In the neonatal period it remains asymptomatic till ductus closes. Thereafter it presents with an acute onset of obstruction to systemic blood flow, leading to left ventricular failure and cardiovascular collapse. A patent ductus arteriosus (PDA) allows blood to pass from the right ventricle to the descending aorta, and when the PDA closes, this leads to acute cardiovascular collapse. It may manifest with breathlessness, feeding difficulty, failure to thrive, hypertension (upper limb to lower limb systolic BP > 20 mm Hg) or with signs of cardiac failure with half of the cases presenting between days 5–14.
Treatment of hypertension in children requires use of angiotensin-converting-enzyme (ACE) inhibitors, B blockers or angiotensin receptor blockers. Long-term follow-up post-surgery is mandatory because of risk of hypertension and aneurysm formation.
CLINICAL PEARL
All newborns should have femoral pulse check before hospital discharge.
LEARNING POINT
All babies with suspected heart disease should have BP measurement in upper and lower limb.
CASE 14: INTERPRETING SEPSIS SCREEN
CLINICAL PRESENTATION
You are asked to interpret the sepsis screen done on admission.
No. | Case | Total leukocyte count (TLC) | Platelet (L) | Absolute neutrophil count (ANC) | Immature to mature ratio (I:T) | µESR | CRP |
---|---|---|---|---|---|---|---|
1. | Well | 8,000 | 1.75 | 2,400 | 0.1 | 5 | +ve |
2. | Well | 18,000 | 2.10 | 1,800 | 0.1 | 7 | –ve |
3. | Well | 7,500 | 1.25 | 2,000 | 0.1 | 10 | –ve |
4. | Sick | 9,500 | 2.50 | 2,600 | 0.2 | 12 | –ve |
5. | Well | 5,200 | 2.25 | 2,600 | 0.1 | 10 | 5 mg/dL |
INTERPRETATION AND DIAGNOSIS
Most commonly used components of sepsis screen are total leukocyte count (TLC), absolute neutrophil count (ANC), I:T ratio, CRP and erythrocyte sedimentation rate (µESR). A sepsis screen is considered positive if two or more of the parameters are abnormal. (Sensitivity 93–100%, specificity 83%, positive and negative predictive values of 27% and 100%). Sepsis screen does not include blood culture, chest X-ray or lumbar puncture—these are definitive tests.23
Case 1
The screen is negative. In case of maternal risk factors for sepsis like premature rupture of membranes (PROM) more than 12 hours, preterm birth with pre-labor rupture of membranes, antibiotic treatment given to the mother for confirmed or suspected invasive bacterial infection 24 hours before birth, during labor or within 24 hours after the birth and suspected or confirmed chorioamnionitis one should consider the gestation for deciding the further plan of action. One may opt for observing a term baby who is asymptomatic with screen negative in presence of risk factors, but in case of preterm with risk factors one would start treatment even if asymptomatic and screen are negative.
A sepsis screen on admission has a positive predictive value of only 40%, i.e. 60% of subsequently proven babies with infection will have a negative sepsis screen on admission. Hence timing of the sepsis screen is essential while interpreting. A negative sepsis screen on admission does not rule out sepsis as it takes at least 12–24 hours for changes to be reflected in blood following onset of infection.
Case 2
An elevated white blood cells (WBC) count is a non-specific marker. With automated machines, inclusion of nucleated red blood cells (RBC) may falsely elevate the WBC count. An elevated WBC count may occur with any stress to the marrow like maternal fever, difficult or prolonged labor, perinatal asphyxia, meconium aspiration, pneumothorax, intraventricular hemorrhage, hemolysis or seizures. In all such conditions the count resolves by 48–72 hours. There is no need to start antibiotics in such conditions.
Case 3
Subclinical thrombocytopenia needs to be differentiated from pseudothrombocytopenia. A peripheral smear will show platelet clumps in pseudothrombocytopenia while in true conditions the platelets will be depleted on smear. One needs to look at the trend and clinical status while interpreting platelets. One would repeat the counts after 48–72 hours, or if baby shows signs of bleeding. Early onset thrombocytopenia (<48 hours) is usually non-infective in origin. Thrombocytopenia occurs late in sepsis evolution and suggests severe infection. Hence interpret thrombocytopenia with clinical status and treat the baby not the numbers.
Case 4
A sick newborn with negative sepsis screen. All sick newborn babies (term and preterm) need sepsis evaluation and treatment for infection regardless of the presence or absence of risk factors and status of sepsis screen. A negative sepsis screen in a symptomatic baby does not take away the diagnosis of infection and would merit initiation of treatment. A repeat negative sepsis screen after 48 hours in a symptomatic baby almost rules out a bacterial infection.
The utility of sepsis screen is maximum when there is clinical ambiguity, i.e. you are not sure whether to give antibiotics or not, e.g. decreased activity with some gastric aspirates, and baby appears stable—in this situation, if screen is negative, you should withhold antibiotics; if positive; you will give antibiotics. On the other hand, if in your clinical judgment, you feel antibiotics have to be started, e.g. sick baby (sclerema) screen serves no purpose, do a blood culture and start antibiotics.24
Case 5
Well baby with negative sepsis screen. A +ve CRP is a non-specific marker. CRP may rise in non-infective inflammatory conditions (asphyxia, meconium aspiration, etc.) thus mimicking bacterial infection. Quantitative estimation of CRP > 10 mg/L) is more important than qualitative estimation (i.e. CRP +ve or –ve). The most accurate, rapid and reliable measurement of CRP is by nephelometry. Sensitivity of the CRP test at presentation is only 40%, i.e. 60% of subsequently proven sepsis episodes will have a normal initial CRP. The positive predictive value for a raised CRP is poor so a positive test is poorly predictive of sepsis.
LEARNING POINTS
- Interpret sepsis screen taking into consideration the risk factors, gestation of infant, clinical status, timing of the screen and culture report.
- Taken in isolation none of the tests are definite indicators of sepsis. A number of non-infectious conditions can cause abnormality misleading to diagnosis of sepsis and antibiotics initiated.
- Sepsis screen is good in ‘ruling out’ sepsis rather than ‘ruling in’ sepsis. Do not use sepsis screen to decide duration of antibiotics. Treat the baby/bacteria and not the screen.
- Do not use sepsis screen as a substitute for blood culture.
- When a clinician is faced with an infant with a possible serious infection, treatment may be started with antibiotics immediately. Clearly the test result will not affect the decision to start treatment if there is already strong evidence of the infection.
Similarly, in the absence of indications of infection, the clinician may not start treatment even if the test was positive. The test is most likely to be useful when the case history and the condition of the patient leave the clinician in serious doubt about the presence of infection, in which case the diagnostic test may be used as a decision rule; start treatment if the test is positive; delay treatment if the test result is negative.
CASE 15: TREATING SEPSIS OR MENINGITIS?
CLINICAL PRESENTATION
A 10-day-boy, 36 weeks gestational age (2.2 kg) presente with fever. He was discharged 4 days back from neonatal intensive care unit (NICU). He was born to primigravida, admitted for respiratory distress from birth requiring oxygen for 24 hours and treated for jaundice for 3 days. He received cefotaxime and amikacin for 5 days in view of clinical sepsis. His blood culture was not done. He was neurologically well except for one episode of subtle seizure but with no recurrence thereafter. He had started to feed well on breast at the time of discharge. Mother noted irritability since last 12 hours and decreased feeding. There were abnormal movements of eyes and face noted by mother over last one hour.
EXAMINATION
His temperature on admission was 38°C, with no core axillary mismatch with RR 55/min, HR 160/min, CRT 2 sec, well pulses well felt. There were subtle seizures. There was no pallor, rash, icterus, sclerema, bleeding from any site or foul discharge. He was stabilized on supportive care.25
INVESTIGATIONS
Total leukocyte count 28,000/cumm, Hb 15 gm%, platelets 1.25 L, with 65% segmented and 2% band forms. CSF study showed 850 WBCs, protein of 137 mg/dL and glucose of 20 mg/dL. No bacteria were seen on the smear. A blood culture isolated acinetobacter. CT brain study showed no evidence of abscess.
DIAGNOSIS
Acinetobacter sepsis with pyogenic meningitis.
TREATMENT AND FOLLOW-UP
The antibiotics were changed as per sensitivity and given for 3 weeks.
DISCUSSION
This near term symptomatic infant was treated for clinical sepsis at birth but without a blood culture. An episode of subtle seizures was ignored and not evaluated. In view of clinical response to antibiotics often a CSF study is not done. CSF study is also ignored neurologic manifestations are not predominant. This leads to partial treatment of meningitis and predisposes to risk of complications like abscess. The danger of missing the diagnosis of meningitis is difference in treatment and outcome as it merits change in the dose, duration and prognosis.
Certain gram-negative bacteria have a predilection for causing brain abscess, including Acinetobacter, Citrobacter, Enterobacter, Salmonella, Serratia, Proteus, and Pseudomonas species. Presence of these organisms should warrant a neuroimaging study to rule out abscess.
LEARNING POINTS
- Treating with antibiotics without blood culture can miss or partially treat meningitis with disastrous consequences.
- CSF study should be done for all newborns who are sick, are suspected to have meningitis, positive sepsis screen, positive blood culture and as part of evaluation for late onset sepsis irrespective of neurologic signs or symptoms.
CASE 16: NONBACTERIAL SEPSIS
CLINICAL PRESENTATION
A preterm baby, 30 weeks (1,250 gram) at birth was ventilated for respiratory distress syndrome (RDS) and received cefotaxime amikacin for 1 week for suspected infection. Baby received amino acids and lipids for 1 week as the feeds were being escalated. After 2 weeks the baby developed apnea and abdominal distension and was investigated. The CRP was very high 120 mg/L and platelet count was only 6,000. Baby was started on meropenem and blood culture was sent. After 48 hours lab reported Candida species in blood culture.26
TREATMENT AND FOLLOW-UP
Baby was started on liposomal amphotericin and antibiotics were stopped. The baby improved in the week that followed, but, required three platelet transfusions in first 3 days. Culture drawn on 3rd day of amphotericin was sterile. Baby was continued on 14 days of amphotericin after this.
PICTURE/IMAGING
Figure 9 shows fungal hyphae.
DIAGNOSIS
Fungal sepsis.
INVESTIGATIONS
Urine microscopy for fungal hyphae (Fig. 9) and budding yeasts; fundus examination may also show fungal balls. Ultrasonography kidney-ureter-bladder (USG KUB) may show mycetoma (fungal balls) in renal pelvis. CSF examination is also important to rule out fungal meningitis.
DISCUSSION
In very preterm babies, even short duration of broad spectrum antibiotics, central catheters, parenteral nutrition, steroids, peritoneal or renal procedures can predispose to fungal sepsis. High index of suspicion is required as clinical symptoms and signs may be non-specific. Fungal infections are not uncommon; they are usually not suspected or properly investigated. Clinicians often consider all elevated CRP as bacterial infection and escalate antibiotics.
Fungi can best grow in immunocompromised host on broad spectrum antibiotics, with bacteria cleared. These infections can present like sepsis, pneumonia, abdominal distension, obstructive anuria, skin rash and refractory thrombocytopenia. One must consider possibility of fungal infections in babies not improving on a broad spectrum antibiotic.
Survival of babies with fungal infection depends on the early diagnosis and treatment. Amphotericin is the antifungal drug of choice for empiric therapy. It must be administered for at least 2 weeks after cultures are sterile.
CLINICAL PEARL
Fungemia should be considered in all babies with more than 7 days antibiotics with unexplained deterioration. One must limit the use of broad spectrum antibiotics in very preterm babies.
LEARNING POINT
High CRP, low platelet count, abdominal signs and insidious illness with more than 7 days antibiotics warrant ruling out fungal sepsis.
CASE 17: NEONATAL ENCEPHALOPATHY
CLINICAL PRESENTATION
A 5-day-old baby was referred for poor suck at breast and poor cry. Baby was otherwise well appearing and infection screens, electrolytes and thyroid functions were normal. Baby-mother dyad was helped by lactation team for a day. Lactation nurse also felt baby goes to sleep easily. Baby was observed in NICU. The baby was found to desaturate intermittently very briefly to 65%. Repeat labs were normal. Baby was started on antibiotics in spite of negative sepsis tests. No improvement was noted in 5 days. Parents were informed about need for investigation. CSF examination, MRI and metabolic screen were performed.
TREATMENT AND FOLLOW-UP
MRI diffusion weighted imaging (DWI) showed a well-defined infarct in the middle cerebral artery distribution on left side (Fig. 10). The T1 and T2 images of MRI were uncharacteristic. CSF examination and newborn screen report were normal.
IMAGING
Figure 10 shows MRI diffusion weighted images showing a well-defined infract in the distribution of middle cerebral artery on the left side.
DIAGNOSIS
Neonatal stroke.
INVESTIGATIONS
Investigations for cause of stroke, like ECHO, studies for prothrombotic conditions, etc., can be planned later.
DISCUSSION
Neonatal stroke is probably more common than in adult/geriatric age! Neonates are predisposed to thrombosis because of physiological tilt in balance between thrombotic and thrombolytic mechanisms.28
Hypoxic ischemic encephalopathy (HIE), birth trauma, vascular malformations, infections and inherited prothrombotic conditions have been associated with neonatal stroke. In the neonate signs of encephalopathy, poor alertness, poor suck, altered cry are often described by parents and most often not due to any underlying medical problem. Currently lack of awareness and non-specific nature of the condition are cause of under diagnosis. Diagnostic test is a diffusion weighted MRI that shows the stroke within a day or two of the insult. The result of stroke can be cerebral palsy, learning disabilities, etc. Some may recover without major neurological deficit.
CLINICAL PEARL
Parent concern of poor suck, excessive sleepiness must be clinically assessed and if necessary evaluated with blood sugar, serum sodium, metabolic tests, CSF examination and MRI if baby is really lethargic and one must think beyond infections.
LEARNING POINT
MRI is a useful investigation in encephalopathy of unexplained origin.
CASE 18: BLEEDING NEONATE
CLINICAL PRESENTATION
A day 3, boy (2.9 kg) was brought with profound bloody vomiting and rectal bleeding. He was exclusively breastfed with uneventful pregnancy and delivery. There was no family history of any illness and he was born of non-consanguineous marriage.29
He appears well, alert and active. While in hospital he has another episode of bleeding per oral. There is no bleeding from any other site, fever, foul discharge from any site, pustules, pallor, icterus, external congenital anomaly, petechiae, purpura, bruises, abnormal movements or dysmorphism. There is no organomegaly. Anterior fontanel (AF) is level. Neonatal reflexes are symmetrical.
INVESTIGATIONS
On admission, Hb 15 gm%, TLC 8,000/cumm, platelets 2.25 L, liver function is normal, prothrombin time (PT) is 55 second and partial thromboplastin time (PTT) is 65 second.
TREATMENT AND FOLLOW-UP
He was administered intravenous (IV) vitamin K, 5 mg, followed by a fresh frozen plasma transfusion. A repeat PT/PTT 24 hours later showed normal values. His bleeding subsided. The Hb on admission was normal but in view of significant bleed a repeat Hb 8 hours later showed a drop needing a packed cell transfusion. There was no vitamin K administered at birth.
DIAGNOSIS
Well baby with spontaneous, localized, fresh bleeding with abnormal PT/PTT in presence of normal platelet count suggests vitamin K deficiency bleeding disorder (VKDB).
DISCUSSION
Newborn babies are at particular risk of vitamin K deficiency, as placental transfer is limited and human milk is a poor source. Normal adult concentrations of PT are not achieved until 6 months of age. In contrast, the activated PTT shows a similar pattern compared to adults through the first six months of life. A variation in these values therefore needs to be interpreted cautiously. VKDB leads to prolonged PT/PTT. But a prolonged PT/PTT is neither specific for, nor an early indicator of, vitamin K deficiency, because it may arise from a variety of conditions.
Early VKDB presents within 24 hours of birth and is almost exclusively seen in infants of mothers taking drugs which inhibit vitamin K. These drugs include anticonvulsants (carbamazepine, phenytoin and barbiturates but not valproic acid), tuberculostatic (isoniazid, rifampicin), some antibiotics (cephalosporins) and vitamin K antagonists (coumarin, warfarin).
Classic VKDB (days 1–7) is prevented by administration of 1 mg vitamin K. In exclusively breastfed infants, single intramuscular (IM) administration at birth is also effectively preventing (rare) late VKDB but single oral administration is not.
Use of menadione or vitamin K3 has been abandoned as its use is associated with hemolytic anemia, indirect hyperbilirubinemia and kernicterus.
Protein induced by vitamin K absence/antagonist-II (PIVKA-II) is a functionally abnormal undercarboxylated form of prothrombin which is released into the serum in vitamin K deficiency states. PIVKA-II is normally undetectable (<0.02 ng/mL) in the serum of healthy subjects, whereas in overt vitamin K deficiency it circulates in high levels. Its serum concentration therefore provides a sensitive, functional indication of recent vitamin K status.
CLINICAL PEARL
- All newborns need vitamin K at birth.
- A normal Hb on admission in a bleeding neonate may be falsely assuring but a repeat Hb 6–8 hours later reflects the true status.
LEARNING POINT
Vitamin K deficiency bleeding disorder is under diagnosed and needs a high index of suspicion. It is a preventable cause of morbidity.
CASE 19: NEWBORN SCREENING
CLINICAL PRESENTATION
Term baby was admitted to hospital for poor feeding, abdominal distension on 10th day of life. Sepsis/necrotizing enterocolitis (NEC) were suspected. Baby's feeds were withheld and antibiotics started. Baby's condition did not improve. Baby's hands and feet remained cold in spite of inotropes, antibiotics and baby remained sleepy.
Baby was referred to a tertiary hospital, antibiotics changed and fluid and inotropes optimized. CSF examination was normal, infection tests were negative, primary screen for metabolic disorders—ammonia, pH and urine reducing substances were normal and MRI brain was normal. The unit protocol was followed and the nurse sent thyroid screen—thyroid-stimulating hormone (TSH) was reported as more than 100 by lab and free T4 was very low. A diagnosis of congenital hypothyroidism (CH) was made. In retrospect, every sign of the case was pointing to a possibility of CH.
TREATMENT AND FOLLOW-UP
Baby was started on 50 microgram of thyroxine orally. After 3 weeks baby was clinically normal, free T4 and TSH were normal. Dose of thyroxine was reduced to 25 microgram. One month later the dose could be reduced to 12.5 microgram (free T4 was in upper half limit of normal). The infant was monitored 3 monthly initially and then 6 monthly for growth, development and thyroid function. Parents were educated that medications must not be stopped before 3 years age, as brain growth is dependent on optimal thyroid function.
DIAGNOSIS
Congenital hypothyroidism. Differential diagnosis can vary depending on the dominant clinical signs. Although the constellation of CH symptoms and signs are typical, they may present only weeks later. In this case we found the open posterior fontanel and wider anterior fontanel after the thyroid function report was obtained!
INVESTIGATIONS
Free T4, TSH, ultrasound neck and radionuclide to look for ectopic thyroid tissue.
DISCUSSION
Screening for congenital hypothyroidism is a routine in many nations for more than three decades. Although debates on cost effectiveness have continued, therapy is very economical (1–2 rupees per day) and outcome excellent if treatment is started in the first 2 weeks of life. Delay in treatment causes mental retardation.
Most common cause for congenital hypothyroidism is aplasia or absent thyroid gland. This results in permanent hypothyroidism. Some may be associated with ectopic thyroid tissue in 31tongue, other parts of mouth and neck. Accidental removal of the tissue will causes further loss of function.
CLINICAL PEARL
Incorporate routine screening for congenital hypothyroidism in newborns. Selective testing for babies presenting with lethargy, delayed passage of meconium, wide fontanel and admitted to hospitals will have higher yield, but is likely to miss babies like in this case.
LEARNING POINT
No clinical sign is pathognomonic of CH. Clinical diagnosis is not reliable for early detection. Congenital hypothyroidism is preventable and treatable cause of developmental retardation.
CASE 20: USING PROPRANOLOL
CLINICAL PRESENTATION
A male baby had a hemangioma swelling on upper eyelid (Fig. 11) that was increasing in size and causing difficulty in opening of the eye noticed since first month of life. At 4 months age, in view of functional impairment, it was decided to treat with propranolol.
TREATMENT AND FOLLOW-UP
Baby was started on propranolol, 1 mg/kg dose twice a day. Baby was monitored in hospital for 1 day for hypoglycemia, hypotension or excessive sleepiness. Within 3–4 days, there was a dramatic decrease in size of the hemangioma. Medication was continued for 6 months.
DIAGNOSIS
Hemangioma.
INVESTIGATIONS
None.
DISCUSSION
Vascular hemangiomas are the most common vascular tumors in children occurring in 5–10% infants. They are more common in preterm babies. Although they are mostly small, some can grow to disfiguring sizes, bleed or get infected. They rarely can involve airway, orbit and visceral organs. Mostly, they appear a few days after birth, grow rapidly in early infancy and slow down and involute by one year age. Most require no treatment, only parental education is required.
Propranolol is now considered as the first line therapy for large or multiple hemangiomas. Until recently, systemic steroids were preferred mode of therapy. But studies have shown propranolol to be more effective and have lesser side effects. Mechanism of action of propranolol is not clear, could be beta-adrenergic effect (changes in hemangioma may be seen within 24 hours as pallor and decrease in size on some occasions), downregulation of growth factors. Mostly safe, but, monitoring for bradycardia, hypotension, hypoglycemia and bronchospasm is necessary. Use of propranolol for children with simple hemangiomas, particularly for cosmetic reasons is not justified.
Steroids are associated with greater toxicity including more serious side effects such as stunted growth, hypertension and hypertropic obstructive cardiomyopathy, and today are no longer the preferred choice.
CLINICAL PEARL
Propranolol therapy is more effective and safer for treatment of infantile hemangiomas than steroids or other existing modalities.
LEARNING POINT
Hemangioma that is large, disfiguring or causing functional disturbance can be treated with propranolol with rapid and good effect.