The objective of this study was to determine the outcome of children with tyrosinemia type 1 from India. Methods: A retrospective observational study was conducted on 11 patients diagnosed with type I tyrosinemia under our care. Age at symptoms, age at diagnosis, age at starting 2-nitro-4-trifluoromethylbenzoyl-1,3cyclohexanedione (NTBC), duration between diagnosis and initiation of NTBC, dose given, total duration of NTBC, and outcomes were noted. Results: Eleven children with a median age of 1.1 years (0.51-1.52) at onset of symptoms were included in the study. The median age at diagnosis was 1.76 years (0.95-2.43). Their current median age is 5.44 (2.36-8.80) years. Common clinical features at presentation were chronic liver disease in 8 (72.72%), rickets in 2 (18.18%), and fulminant liver disease in 1 (9.09%) patient. Hepatomegaly was observed in all children, growth retardation in 9 (81.81%), coagulopathy in 8 (72.72%), and abdominal distention in 6 (54.54%) patients. The median duration of NTBC therapy was 13.5 (7-21.25) months. The median dose of NTBC was 1 (0.77-1) mg/kg/day. One (9.09%) patient died due to liver cell failure. However, she had received NTBC only for a month. Another patient developed hepatocellular carcinoma (HCC) and underwent liver transplantation. He could receive NTBC only for 2 months, although he was diagnosed to have tyrosinemia for over a 1 year. Eight patients are on treatment with NTBC and are doing well, and 1 patient is not on NTBC and continues to have renal tubular acidosis. Conclusion: NTBC therapy is effective and improves the prognosis of tyrosinemia. A long-term follow-up is required to determine progression to HCC and need for liver transplantation.

This prospective, cross-sectional study, conducted from July 2018 to March 2019, aimed to determine the causes of constipation using high-resolution anorectal manometry. Among 33 children enrolled in the study, 31 (94%) children presented with complaints of constipation with mean duration of 2.3 ± 2.5 years and 12 (36.4%) children also had associated complaints of faecal incontinence with mean duration of 3.5 ± 2.8 years. Seven children (21.2%) had normal high-resolution anorectal manometry parameters; anal sphincter hypotonia with decreased squeeze in one child, anal sphincter hypertonia with other abnormal parameters were noted in 25 and absent recto-anal inhibitory reflex in two. The causes of constipation determined were functional constipation in 30 (91%) children, suspected Hirschsprung’s disease in two and suspected dyssynergic defecatory disorder in one. Almost 90% had functional constipation of which anal hypotension and anal hypertension may be a part of chronic functional constipation.

We aimed to determine the clinical profile and outcome of Indian children with glycogen storage disorders. Ours was a retrospective study from 2005 to 2018 in 36 children diagnosed on the basis of a liver biopsy. Most (77.7%) presented with abdominal swelling but a quarter with convulsion, four of whom had documented hypoglycaemia associated, doll-like facies or developmental delay. Diarrhoea was found in four patients, ascites in two and portal hypertension in one. One child died, and over half were unfortunately lost to follow-up, though the rest had recurrent seizures, three more developed neutropenia, two recurrent infections, one portal hypertension with epistaxis, one nephrocalcinosis and liver adenoma. Liver function improved in six (37.5%) with normalisation of triglycerides, and four of serum transaminases.

Congenital hypotonia and hypoventilation is a rare association. We report a rare case of a female newborn with poor respiratory drive, ventilator dependency, severe hypotonia, cardiomyopathy, and premature death. Clinical-exome-sequencing revealed SLC25A4-related mitochondrial deoxyribonucleic acid (DNA) depletion syndrome-12A (cardiomyopathic type). This syndrome is apparent at birth and carries a poor prognosis.

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