Sotos syndrome

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

Ataxia

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).


合計: 3

                      


(表示件数)
PMID (PMCID)
2401112
FEMALE Adult
[A case of cerebral gigantism with cerebellar atrophy].
Kitazawa K, Ikeda M, Tsukagoshi H.
Rinsho Shinkeigaku. 1990;30(5):520-3.
This case indicates that the ataxia in cerebral gigantism may be, at least partly, caused by cerebellar atrophy.
2401112
FEMALE Adult
[A case of cerebral gigantism with cerebellar atrophy].
Kitazawa K, Ikeda M, Tsukagoshi H.
Rinsho Shinkeigaku. 1990;30(5):520-3.
Though cerebral gigantism is often associated with clumsiness and incoordination, the etiology of the ataxia is poorly understood.
2401112
FEMALE Adult
[A case of cerebral gigantism with cerebellar atrophy].
Kitazawa K, Ikeda M, Tsukagoshi H.
Rinsho Shinkeigaku. 1990;30(5):520-3.
A 37-year-old housewife, who had physical characteristics of cerebral gigantism, such as the tall stature, acromegaly, macrocephalia, high arched palate and antimongoloid slant, developed cerebellar ataxia and dysarthria.