Alstrom syndrome—a diagnostic dilemma

Alstrom syndrome is a rare autosomal recessive genetic disorder first described in 1959. The syndrome with an estimated prevalence of less than 1 in 1 million has about 700 cases reported worldwide and only about 20 cases have been reported from India. The features of the syndrome include progressive retinal dystrophy and sensorineural deafness with phenotypic similarity to features of metabolic syndrome. Authors report a case of a 9-year-old boy referred to tertiary care hospital for evaluation of elevated blood glucose with polyuria, polydypsia and polyphagia. The child presented with blindness since childhood with delayed motor milestones. The child has normal intellect and noted to have central obesity, hypertension, acanthosis nigricans and micropenis with atrophic testes. Investigations revealed hyperglycemia with glycated haemoglobin of 10 %, hypertriglyceridemia and microalbuminuria. DNA sequence analysis showed a homozygous mutation detected in exon 10 of ALMS1 gene resulting in insertion of ‘T’ between 8150 and 8151 nucleotides of exon 10, thereby resulting in replacement of Ser by Phe at codon 2719 and development of Alstrom’s syndrome. The boy was treated with insulin and metformin for elevated blood glucose and fibrates for hypertriglyceridemia.