PMID: 18178993Jan 9, 2008Paper

Joubert syndrome: a major brain malformation

Journal of the Indian Medical Association
Jaydeb RaySangita Mondol

Abstract

Joubert syndrome is a rare genetic disorder characterised by dysplasia of the cerebellar vermis and a malformed brainstem causing ataxia, tachypnoea, nystagmus, hypotonia and mental retardation. An early case of a two-month-old infant presenting with the symptoms mentioned above with the diagnosis of Joubert syndrome is presented here. MRI revealed characteristic "molar tooth" appearance of superior cerebellar peduncles. This case is unusual as it was diagnosed in early infancy.

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