Joubert Syndrome with Severe Hypotonia: A case report .
- Author:
Jae Young HAN
1
;
In Sung CHOI
;
So Young LEE
;
Jae Hyung KIM
;
Sam Gyu LEE
;
Sung Man ROWE
Author Information
1. Department of Rehabilitation Medicine, Chonnam National University College of Medicine.
- Publication Type:Case Report
- Keywords:
Joubert syndrome;
Hypotonia;
Developmental delay
- MeSH:
Ataxia;
Congenital, Hereditary, and Neonatal Diseases and Abnormalities;
Eye Movements;
Humans;
Intellectual Disability;
Muscle Hypotonia*;
Wills
- From:Journal of the Korean Academy of Rehabilitation Medicine
2001;25(5):883-887
- CountryRepublic of Korea
- Language:Korean
-
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.
