Cerebellar ataxia and hypogonadism. A clinicopathological report.
A female showed primary amenorrhea and slowly progressive ataxia of limbs and gait, that had started when she was 18 years old. Endocrine data were consistent with hypogonadotropic hypogonadism. She died at 35 years of age. Post mortem examination showed mucinous carcinoma of the lung, hypoplastic uterus, atrophic ovaries. The cerebellum was small, with the atrophy most marked in the vermis, and the pons was shrinked. There was almost complete Purkinje cell disappearance and neuronal loss in the granular layer and the inferior olives.
De Michele
G
G
Department of Neurology, Second School of Medicine, University of Naples, Italy.
Filla
A
A
D'Armiento
F P
FP
Striano
S
S
Barbieri
F
F
Salvatore
G
G
Di Carlo
V
V
Mansi
D
D
D000328:Adult; D000568:Amenorrhea / Q000209:etiology; D002524:Cerebellar Ataxia / Q000150:complications / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology; D002869:Chromosome Aberrations / Q000473:pathology; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000473:pathology*