The prevalence of functional gastrointestinal disorders in our study was 10 %. The most frequent FGID noted was functional dyspepsia.

Autoimmune hepatitis (AIH) is a chronic immune mediated liver disease characterized by elevated transaminases, hyper gammaglobulinemia, presence of autoantibodies and interface hepatitis in the absence of a known etiology of liver disease. Thiopurines (azathioprine [AZA]/6-mercaptopurine [6MP]) and steroids remain the first line of treatment of AIH in both children and adults. However, a small proportion of AIH patients are either non-responders or develop side effects with AZA. The metabolism of AZA is complex and mediated by multiple enzymes. After absorption and getting converted to 6MP, it is converted to 6-thiouric acid, 6-methyl mercaptopurine (6MMP) and 6-thioguanine (6TG) by different enzymes. Elevated 6MMP levels are associated with hepatotoxicity and also poor efficacy due to simultaneous lower levels of 6TG, which is the active drug metabolite related to both efficacy and myelosuppression. Allopurinol, a xanthine oxidase inhibitor shifts the metabolism of AZA away from 6MMP toward 6TG. This combination of allopurinol with reduced dose of AZA is an alternative to more expensive and toxic second line therapy to induce remission in patients with AIH. This article discusses the mechanism of action of allopurinol in inducing response to AZA, reviews the published literature on this combination therapy and gives guidelines on the use of allopurinol in patients with AIH. ( J CLIN EXP HEPATOL 2017;7:55-62)

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Systemic primary carnitine deficiency (CDSP) is a rare autosomal recessive disorder caused by a defect in plasma membrane uptake of carnitine due to SLC22A5 gene mutations. A nine-mo-old boy presented with hypertrophic cardiomyopathy, massive hepatomegaly and jaundice. Metabolic testing revealed very low free carnitine levels. Genetic analysis using Sanger sequencing method revealed compound heterozygous mutations in SLC22A5 gene, c. 1354 G > A (p. Glu452Lys, previously reported) and c.231_234del (novel frame-shift). Oral carnitine supplementation resulted in improved clinical outcome with ejection fraction to 75 % and normalization of liver size and enzymes after 3 mo.

Abdominal Epilepsy is a rare cause of recurrent abdominal pain in children. Paroxysmal episodes of pain abdomen with neurological symptoms like dizziness, post-ictal sleep or lethargy, specific electro-encephalographic changes and improvement in symptoms after treatment with antiepileptic drugs help in diagnosis of abdominal epilepsy. We report a seven-year-old girl with recurrent episodes of abdominal pain. Cause of pain remained undiagnosed despite extensive investigative workup. Meticulous history and pain diary gave clue to the diagnosis. EEG conducted during pain episode was abnormal. Treatment with Valproate resolved the pain. Normalization of EEG findings on follow up confirmed the diagnosis of abdominal epilepsy.