title: Joubert syndrome: a major brain malformation.
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.
authors.affiliation: Department of Paediatrics, The Institute of Child Health, Kolkata.
authors.forename: Jaydeb
authors.initials: J
authors.lastname: Ray
authors.forename: Avijit Guha
authors.initials: AG
authors.lastname: Majumder
authors.forename: Dipankar
authors.initials: D
authors.lastname: Das
authors.forename: Debadatta
authors.initials: D
authors.lastname: Mukhopadhyay
authors.forename: Sangita
authors.initials: S
authors.lastname: Mondol
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D001259:Ataxia; D001921:Brain / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D009123:Muscle Hypotonia; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D013577:Syndrome