Joubert Syndrome with Severe Hypotonia: A case report . |
Han, Jae Young , Choi, In Sung , Lee, So Young , Kim, Jae Hyung , Lee, Sam Gyu , Rowe, Sung Man |
Department of Rehabilitation Medicine, Chonnam National University College of Medicine. |
심한 저긴장증을 보이는 Joubert 증후군 증례 보고 |
한재영, 최인성, 이소영, 김재형, 이삼규, 노성만 |
전남대학교 의과대학 재활의학교실 |
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Abstract |
Joubert syndrome first described by Joubert et al. in 1969 is a very rare congenital disorder, characterized by episodic hyperpnea, abnormal eye movement, hypotonia, ataxia, and mental retardation. This syndrome generally represents as autosomal recessive inheritance and main neuropathological finding is agenesis or aplasia of the cerebellar vermis. This patient represents significant generalized muscle hypotonia which is not affected by any other tone-modifying maneuvers. And so there is no significant neuromotor improvement with neurodevelopmental treatment such as Bobath method, Vojta method, or proprioceptive nerve facilitation technique and so on. We report the Joubert syndrome showing typical features with delayed development. |
Key Words:
Joubert syndrome, Hypotonia, Developmental delay |
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