Metabolic, Endocrine and Clinical Findings in a Case With Alström Syndrome

SUMMARY Alstrom syndrome is an autosomal recessive disorder which is characterized by excessive insulin resistance. Truncal obesity, sensorineural deafness, acanthosis nigricans and retinal degeneration are the clinical features of Alstrom syndrome. In addition, hypogonadism, short stature, glomerulotubular dysplasia, benign cardiomyopathy, hyperlipidemia, mental retardation and hepatic dysfunction have been reported in the medical literature. Here we report on a case with Alstrom syndrome and bronchial asthma. The patient, who had been followed up for bronchial asthma diagnosed at the age of 2. A 7,5 years old girl was referred to our clinic because of obesity. The family history was significant for her parents being second degree relatives. Her physical examination revealed truncal obesity, visual loss, hearing loss and acanthosis nigricans. In developmental evaluation, border line mental retardation was noted. Her laboratory tests showed increased hepatic transaminases, hyperlipidemia, exaggerated hyperinsulinism and a normal oral glucose tolerance test. Audiological evaluation revealed mild degree sensorineural hearing loss and ophthalmologic examination revealed retinal degeneration. The patient had typical characteristics of Alstrom syndrome. This syndrome is one of the syndromic causes of Type 2 diabetes mellitus of childhood and therefore should be kept in mind.