Abstract
A 28-year-old man had experienced non-progressive gait disturbance since early childhood. He was admitted because of hypogonadism and cerebellar ataxia. On admission, bilateral vitelliform macular dystrophy, fixation nystagmus, slurred speech, cerebellar ataxia, decreased tendon reflexes, and pes cavus were present. Higher brain function, auditory function, and olfactory function were not disturbed. A gene abnormality related to known hereditary spinocerebellar degeneration and Kallman syndrome was not observed. Brain MRI demonstrated cerebellar atrophy. ECD-SPECT revealed decreased blood flow in the brain stem and cerebellum. Endocrinological tests indicated that the hypogonadism seemed to be due to a primary pituitary disturbance. This is the second case of Boucher-Neuhäuser syndrome in Japan.
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