Alstrom syndrome – a diagnosis revisited

Abstract

A 34 year old male referred by ophthalmology to our diabetes clinic with poor metabolic control. He was diagnosed to have type 2 diabetes at the age of 27 years when he presented with abdominal pain and osmotic symptoms with an HbA 1c of 11.2 %. There was no family history of diabetes and he was diagnosed with hypertension at the age of 25 years along with a severe mixed dyslipidaemia. All investigations for secondary hypertension were negative.On physical examination, he was noted to be significantly overweight with a BMI of 36 kg/m 2 and central adiposity. He did not have any evidence of micro or macrovascular complications. He wore hearing aids in both ears and was noted to have nystagmus with perception of light in both eyes. He had normal anterior segments apart from bilateral early sub capsular cataracts with normal intraocular pressures. A fundus examination showed the presence of bilateral pigmentary retinopathy with a slightly pale optic disc. There was no evidence of poly-or syndactyly suggestive of BBS.His diabetes was initially treated with metformin and then pioglitazone. His glycaemic control continued to be suboptimal due to his poor diet and reduced mobility. He was intolerant to GLP-1 therapy and was eventually commenced on insulin.He was also treated with ezetimibe and nicotinic acid as he was intolerant to statins & fibrates. His liver enzymes were slightly abnormal with an isolated elevated γGT .There were no stigmata of chronic liver disease and an ultrasound scan was normal apart from fatty infiltration. He was also found to have hypogonadism and commenced on testosterone therapy.His prior history included poor vision since the age of 8 when he was registered blind. His vision continued to deteriorate and by the age of 12 he just had perception of light with sensorineural deafness diagnosed at fifteen. He was also previously considered to have ocular albinism. Various ocular diagnoses were suggested including the possibility of Usher's Syndrome (type 2). The diagnosis of Abstract Carl Henry Alstrom first described the syndrome in 1959. 1 It is a rare autosomal recessive, single gene, multi system disorder characterised by early onset retinal (progressive cone rod) dystrophy with profound visual loss, childhood obesity with insulin resistance, hyperinsulinaemia and diabetes, sensorineural hearing loss, dilated cardiomyopathy as well as progressive renal and hepatic dysfunction. We present a case of Alstrom syndrome diagnosed in a 34 year old male subject followed by a brief review of its clinical presentation