Thiamine responsive megaloblastic anemia syndrome.

Thiamine responsive megaloblastic anemia syndrome (TRMA) is a clinical triad characterized by thiamine-responsive anemia, diabetes mellitus and sensorineural deafness. We report a 4-year-old girl with TRMA whose anemia improved following administration of thiamine and this case report sensitizes the early diagnosis and treatment with thiamine in children presenting with anemia, diabetes and deafness.

Clinical profile and outcome of diabetic ketoacidosis in children.

Background. There is little information on the clinical profile and outcome of children with diabetic ketoacidosis in India. We analysed the data of children managed by us at a tertiary care hospital. Methods. We retrospectively analysed the case records of 21 children (13 boys and 8 girls) with diabetic ketoacidosis admitted to our hospital from January 2004 to August 2008. They were managed using a standard protocol including intravenous fluids and insulin infusion. Blood glucose, serum electrolytes, blood urea, arterial blood gases and urinary ketones were monitored at regular intervals. The outcomes were assessed. Results. The median age at presentation was 8 years and 17 children (80%) were detected to have diabetes mellitus at the time of presentation. Twelve children (57%) presented with severe diabetic ketoacidosis. Polyuria with polydipsia was the commonest clinical presentation (17). All of them had elevated HbA1C levels. The average length of stay in the paediatric intensive care unit was 2.9 days. The median time for the arterial blood gases to become normal was 19 hours and for urinary ketones to become non-detectable was 28 hours. None of the children received bicarbonate and there were no complications or mortality. All the children were doing well on follow up at 3 months. Conclusion. The outcome of active management of diabetic ketoacidosis in children is rewarding. The use of a standard protocol for management was associated with no complications or mortality in our series.