J Korean Acad Rehabil Med.  2001 Oct;25(5):883-887.

Joubert Syndrome with Severe Hypotonia: A case report

• Han JY
• Choi IS
• Lee SY
• Kim JH
• Lee SG
• Rowe SM

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.

Keyword

Joubert syndrome; Hypotonia; Developmental delay

MeSH Terms

Ataxia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Eye Movements
Humans
Intellectual Disability
Muscle Hypotonia*
Wills