A NEW FAMILY OF BOUCHER-NEUHAUSER SYNDROME - COEXISTENCE OF HOLMES TYPE CEREBELLAR ATROPHY, HYPOGONADOTROPIC HYPOGONADISM AND RETINOCHOROIDAL DEGENERATION - CASE-REPORTS AND REVIEW OF LITERATURE

The association of familial hypogonadism with progressive cerebellar a taxia is only rarely encountered, and the exact link between the sympt oms remains unknown. We report here two. sisters presenting with Holme s type cerebellar ataxia, hypogonadotropic hypogonadism and retinochor oidal degeneration recently diagnosed as Boucher-Neuhauser syndrome. T here was consanguinity between the parents of the affected individuals and the condition seemed to be inherited as an autosomal recessive de fect. On endocrinological examinations, in both cases, the responses o f LH and FSH to LH-RH (100 mu g) were impaired even after repetitive s timulation with LH-RH (400 mu g, 7 days), suggesting that the hypogona dism was due to a primary pituitary disturbance. Impaired GH responses to GRF (100 mu g) and insulin-induced hypoglycemia (0.1 U/kg) were al so noted. The two sisters shared an almost identical clinical and endo crinological picture. Their karyotypes were 46, XX. They had been trea ted for primary and secondary amenorrhea at the age of 20 years and ne urological problems had started at the age of 30 years. This unique fa mily displays clinical evidence of a possible common mechanism respons ible for a progressive hypothalamo-pituitary and cerebellar impairment of late onset.