Report of Three Cases of Alström Syndrome in a North African Family

C. Oliver, MD

Service d'Endocrinologie, Maladies Métaboliques et Nutrition, Hôpital Nord, Chemin des
Bourrely, Marseille (France) (charles.oliver@ap-hm.fr)

The family originated from the region of Setif (Algeria). The parents were first-degree cousins. Both presented type II diabetes with obesity, treated with oral antidiabetic agents. They showed no sign of retinal pigmentary degeneration or deafness or acanthosis migricans. They had seven children : five girls and two boys. Three of the children presented features of the Alström syndrome while the others were obese without ophtalmologic nor other metabolic pathology. Results of genetic and ophtalmologic studies in this family have been reported in F. Macari et al. Hum. Genet. 1998, 103, 658661 and C. Benso et al. Graefe’s Arch Clin Exp Ophtalmol 2002, 240, 622-627.

Long-term follow-up of affected children (two males born in 1973 and 1986, one female born in 1979) is available since 1983. All children had progressive blindness and deafness from the age of 2 years. They developed evolutive insulinoresistance and metabolic alterations. The social context was an unfavorable environment, so that diabetes control was very poor. The main clinical features of the syndrome include :

• Insulinoresistance with changes during follow-up from hyperinsulinemia and normal blood glucose levels to diabetes requiring high doses of insulin (300-500 units/day). Acanthosis nigricans was intense before the appearance of diabetes, then decreased progressively until quasi-complete diappearance.
• Hypertriglyceridemia increased with time and reached levels as high at 120 g/l when diabetes was poorly controlled. Pump insulin treatment and diet observance allowed a good diabetes control for two months in two children. Under this condition, serum triglycerides levels did not decrease below 20 g/l.
• Gonadal function was normal in the girl. Delayed puberty was observed in one boy and hypogonadotrophic hypogonadism in the other. No other endocrine abnormalities were observed in all children.
• Proteinuria was detected when the children were about 8 to 10 years old and progressively increased. The oldest boy developed hypertension and died at the age of 24 of severe renal failure.