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A 4-month-old child was referred with a suspicion of metabolic disease. He was the first child of a non-consanguineous marriage, delivered normally at full term. After about a month, the pediatrician noted that he was not putting on weight and parents noted that he was listless, pale, and suck was poor. He was given supportive treatment in the form of vitamins and “baby-tonic” but there was no improvement.

In clinical practice, you see very strange cases and sometimes you wonder about “wisdom” of “wise” man and are amazed at the maternal instinct and courage of apparently simple looking womenfolk.

A 20-month-old child returned to the clinic after about a year of lost follow-up for abdominal distention.

I was shocked to see my receptionist and a few patients crying in my clinic. The reason, I soon found out, was a 11-month-old pair of monozygotic twins who were crying for the last 5 months, in tandem had made everyone in the family cry with them out of sheer distress. The reason for their behavior was severe itching they developed at the age of 5 months with progressive jaundice and white-colored stool. Investigations showed cholestatic jaundice without any dilatation of biliary tree. They were referred for evaluation.

A 3-day-old child was brought to us with jaundice. It was the couple’s first child and they were worried.

A 9-year-old boy was referred from dental OPD for opinion with a year’s history of recurrent bleeding gums and epistaxis and liver function tests suggestive of hepatitis. There were no other complaints. There was no history of fever, abdominal pain, diarrhea, rashes, or weight loss.

A 3-year-old child of non-consanguineous marriage was referred for recurrent unexplained vomiting and failure to thrive.

A 3-month-old male infant was referred for persistent vomiting, feeding difficulty, and dehydration.

A 7-year-old boy came for consultation with jaundice. He was previously fit and well and did not abuse drugs, tobacco, etc. He had no injection or blood transfusion. Some 6 weeks ago he had traveled quite extensively with his parents, eating out in roadside hotels.

A 16-month-old boy was referred for “recurrent attacks of asthma.” He was born out of a second-degree consanguineous marriage and was the first child of the parents. FTND and birth weight was 2.7 Kg. Pregnancy was uneventful. There was no notable family history or past medical history. Soon after birth the child had had recurrent episodes of “asthma.” He would require frequent admissions. Each time he would be given a cocktail of nebulizers and antibiotics with oxygen and the rest and would recover enough to be discharged only to be admitted again. On an average, he had one admission every fortnight. He had failure to thrive.

An 8-year-old boy was seen by a family physician for malaise, anorexia, and vomiting. Hepatitis was diagnosed and he was given supportive treatment. His jaundice increased, so he was referred to a specialist center.

A 13-year-old girl presented with the chief complaints of abdominal pain, nausea, and vomiting for 2 weeks. The vomiting was not associated with eating and occurred once to twice daily. Her abdominal pain was mid-epigastric and was described as “deep” in nature. She has had no diarrhea, weight loss, or fever. There were no other symptoms present.

A 6-month-old male child, first of the couple, was referred for evaluation of prolonged cholestatic jaundice. There was no significant family history. Jaundice was first detected around the age of 3 months and treated locally. Sonography done at that time showed normal liver architecture and a partially distended gall bladder. Pediatrician also noted “murmur” in CVS examination, which he thought was due to ASD. ASD was confirmed on echocardiogram done locally. There was some question about pulmonary hypertension also.

A 2-month-old child was referred for neonatal ascites. He was the first child born of a non-consanguineous marriage. His birth weight was low and on regular follow up, he had failure to thrive for which he was investigated and found to have hepatocellular damage and raised prothrombin time and ammonia. Liver was just palpable, spleen was not palpable and CVS, RS, and CNS were normal. TORCH titer was within normal range and urine for metabolic screening was normal. Total plasma galactose in mother’s milk was within normal range. He was thought to have neonatal hepatitis and treated with supportive treatment and asked to come after a week.

A 22-year-old woman in the first trimester of pregnancy is found to be positive for hepatitis B surface antigen (HBsAg) and hepatitis B e antigen (HBeAg). The obstetrician referred her for further management. She was asymptomatic; there was no family history of liver disease. There was no history of blood transfusion or any surgery. Physical examination was normal.

A 6-month-old child was referred for neonatal cholestasis and generalized edema. He was born in seventh month because of oligohydramniose. There was no parental consanguinity. His elder sister died of “sepsis” when she was a week old. That pregnancy was also affected by oligohydramniose. No further information was available on her death.

I started in this field some 25 years ago. Everything looked intimidating but perseverance and reading and a large pool of patients eventually worked for me and what was very intimidating then started making sense. Why these diseases look so intimidating? The reason as I see is that there are no gross clues and the neonate or infant cannot talk, so you have to look for finer clues and piece everything together, then it is not that difficult in a majority of the cases. I would suggest use your common sense and things will become very easy if very easy looks like exaggeration, at least easy is a genuine belief.

A 3-month-old child was referred for jaundice. He was FTND, from a non-consanguineous marriage. He had one sib who was 2 years old and doing well. Antenatal history was unremarkable. He had a “physiological jaundice,” which continued well beyond 3 weeks and hence it was thought to be breast milk jaundice and the child was given top feed with a proprietary brand. Even after this “switch,” the child did not improve, started having vomiting and intermittent creamy white stool. There was failure to thrive and excessive irritability.

A 3-year-old girl was referred for liver biopsy with a suspicion of glycogen storage disorder.

Dr. Google has played havoc in the medical field. These days you see all sorts of confusion regarding health because patients consult Dr. Google first. Here is one example.

A 3-year-male child, of a non-consanguineous marriage was seen because of recurrent diarrhea almost from birth.

A 2-year-old male was referred by pediatrician for persistent elevation of AST and ALT. The child had developed acute hepatitis A and serial monitoring showed persistent elevation of AST and ALT.

A 3-month-old child was referred because of jaundice and altered coagulation not corrected by vitamin K and plasma.

A 12-year-old boy was admitted for sudden onset of abdominal swelling, found to be ascites, at another hospital.

A 15-year-old male was seen for recurrence of jaundice. He was previously healthy. His jaundice started with fever, nausea, and vomiting. He was negative for hepatitis B virus. SGPT was significantly raised and there were no malaria parasites. He appeared to be settling down when after about 6 weeks he was noted with increasing bilirubin and SGPT that were coming towards normal but had not yet reached normal values.

A 2-year-old girl was seen for hematemesis. She was the first child of a non-consanguineous marriage. She required an exchange transfusion at birth. Following this, there was some infection requiring a prolonged course of antibiotics. She remained well till the episode of hematemesis.

A 6-week-old child was seen because of progressive jaundice. He was the firstborn, FTND, from non-consanguineous marriage. Pregnancy was uneventful. Soon after birth, he was noticed to have jaundice. Parents were reassured that this will settle down. After about 7 days, jaundice became more prominent and the parents noted very light-colored stool.

A 3-year-old boy was referred because he was having repeated jaundice for the past 1.5 years. He was the second child of a non-consanguineous marriage born at full term. No adverse pregnancy history. He was weaned off milk at about 7 months. From the age of about 1.5 years he started having recurrent jaundice of hepatocellular type. He was admitted three times for this jaundice.

A full-term child was sent for evaluation of hepatosplenomegaly and neonatal jaundice. He was born of a non-consanguineous marriage. Pregnancy was marked by a bout of fever and malaise lasting for about 3 weeks when the mother was about 3 months pregnant. The child had low birth weight of 1.6 kg and had failure to thrive. At about a month he was noted to have mild jaundice, hepatosplenomegaly. HBsAg and ultrasonography were normal.

A 12-year-old boy was referred for “obstructive jaundice.” He was seen by his pediatrician for loss of appetite and progressive yellowish discoloration. This he had for the past 3 months or so, starting with fatigue, anorexia, and low-grade fever mainly at night with profuse sweating, so much so that many times he had to change his clothes. At this point, he was given a course of cephelexin by his family physician without any improvement and hence he was referred to a pediatrician.

A full-term male neonate presented at age 12 weeks with vomiting, pale loose stools, and failure to thrive. His liver was slightly enlarged and he had cholestasis with a total and conjugated plasma bilirubin of 3.4 mg and 2.6 mg, respectively. As stool consistency and vomiting worsened, an acute enteric infection was assumed and the child was given intravenous fluid and antibiotics. While on this regime, vomiting subsided and the child was discharged with advice to be breastfed only.

A 2-year-old female child was referred for recurrent dehydration with low sodium and chloride during these episodes.

A 3-year-old girl was referred for huge hepatomegaly and persistently abnormal liver function tests.

A 3-month-old child of a two-degree consanguineous marriage was referred for failure to thrive and tachypnea.

A 3-year-old boy was seen for failure to thrive and progressively stiffening muscles. He was a full-term child, third in the family, born of non-consanguineous marriage. He was noted to have some jerky movement of the limbs and had a fixed position of both upper and lower limbs. He also had failure to thrive. He was seen by a pediatric orthopedic surgeon who diagnosed arthrpgryposis multiplex. Physiotherapy was recommended but this did not make much difference. He had delayed milestones. He continued to have jerky movements of his limbs and there was persistent failure to thrive.

A 15-year-boy came for consultation with jaundice. He was previously fit and well and did not use drugs, tobacco, alcohol, etc. He had no injection or blood transfusion. Some 4 months ago he had travelled rough for holidays. On return from holidays he developed jaundice.

A 3-year-old boy was seen for huge liver. He was healthy from birth onward till a week or so before.