Joubert syndrome: a major brain malformation.
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.
Ray
Jaydeb
J
Department of Paediatrics, The Institute of Child Health, Kolkata.
Majumder
Avijit Guha
AG
Das
Dipankar
D
Mukhopadhyay
Debadatta
D
Mondol
Sangita
S
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