Two sibling cases of
cerebrotendinous xanthomatosis with
parkinsonism were reported. One was a woman of 39 years old, and another was her sister of 36 years old. In both cases,
febrile convulsion appeared on 1.5 year old, and
mental deterioration, ataxic -
spastic gait,
cataract and swelling of Achilles tendons developed in order since entrance into elementary school. Five years ago, while they were in hospital at the first time, they were diagnosed as
cerebrotendinous xanthomatosis by mental disturbance,
cerebellar ataxia, pyramidal tract sign, histologically xanthomatous
granuloma of Achilles tendons and hypercholestanolemia and family history of autosomal recessive trait. After the second admission,
parkinsonism was noticed in addition to those findings above.
Parkinsonism consisted of the following:
Resting tremor of parkinsonian type, mild
muscle rigidity of forearm and intrinsic-plus hand were observed in the elder sister, and generalized severe rigidity and
bradykinesia in the younger sister. In both cases, brain CT showed the pontocerebellar
atrophy, and the bilateral low density area in corona radiata, posterior portion of internal capsule, cerebral peduncle, tegmentum of midbrain and deep matter of cerebellum. Brain MRI also showed abnormal intensity in the same regions as on the brain CT. Administration of anti-parkinsonian drugs was challenged for the
parkinsonism. Oral
L-dopa test (500 mg) moderately improved
parkinsonism in both cases.
Therapy of
diphenylpyraline hydrochloride (10 mg/day) entirely inhibited parkinsonian
tremor and mild rigidity in the elder sister but was less effective for severe rigidity in the younger sister than administration of
L-dopa.(ABSTRACT TRUNCATED AT 250 WORDS)