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Alström Syndrome: A Diagnostic Dilemma

Ashwitha V. , Ashwitha V. , Rukmini M.S. , Soundarya M. , Madan Gopal M. , Puneeth A.

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New Indian Journal of Surgery 3(3):p 174-174, July - September 2012. | DOI:

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Abstract

 Alström syndrome is a rare autosomal recessive genetic disorder characterised by multi organ dysfunction
with an estimated prevalence of less than 1 in 1 million has about 700 cases reported worldwide and only about 20 cases from India.It is a rare autosomal recessive genetic disorder, first described in 1959, by Carl Henry Alstrom. It is caused by mutation in the ALMS1 gene, located on the chromosome 2p13. The clinical features usually start from childhood with congenital progressive cone-rod retinal dystrophy leading to blindness, sensorineural deafness, truncal obesity. They also have features of insulin resistance with hyperinsulinemia, type 2 diabetes and acanthosis nigricans. The other biochemical alteration is hypertriglyceridemia which may lead to pancreatitis. The endocrinal abnormalities are hypothyroidism and hypogonadism with gynecomastia and reduced fertility. Increased incidences of serous otitis media and fluid retention have also been reported.

 

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