Alstrom syndrome – is there a mitochondrial pathogenesis? A case report of two affected sisters

The Alstrom syndrome is a rare and autosomal recessive inherited disorder caused by mutations in the ALMS1-gene. The affected patients show a combination of pigmentary retinopathy, obesity, sensorineural deafness, type II diabetes mellitus and tubular nephropathy. In addition, they can develop a cardiomyopathy, diabetes-associated acanthosis nigricans, hepatic dysfunction, hypertriglyceridemia, short stature and mental retardation.

We report the case of two sisters in which Alstrome syndrome is highly suspected. Initially both children suffered from acute cardiomyopathy und hepatopathy. Therefore, a mitochondrial disorder was assumed. In the younger girl a deficiency in complex II and IV of the respiratory chain in fibroblasts was demonstrated.

The cardiologic condition stabilized in both children. Because of cardiogenic shock the younger one was left with an neurological handicap. The older sister developed subsequently all symptoms of Alstrom syndrome.

We would like to discuss the probable pathogenetic role of mitochondrial affection in Alstrom syndrome.

The results of molecular studies to confirm Alstrom syndrome are pending.