title: An autopsy case of an infant with Joubert syndrome who died unexpectedly and a review of the literature.
abstract: The present report describes the unexpected death of a 6-month-old female infant who had been clinically diagnosed with Joubert syndrome. This is a relatively rare congenital neurological disorder characterized by hypoplasia/aplasia of cerebellar vermis, which transmits information from the body to the cerebellum, and is associated with respiratory dysfunction, abnormal eye movements, and developmental delay. The infant was found dead in bed and the immediate cause of death was determined as aspiration of vomit which may have been induced by a neurological disorder related to hypoplasia of the cerebellar vermis. These findings, together with a review of previous clinical case reports, suggest that Joubert syndrome should be considered as a predisposition to sudden unexpected death in infants mainly due to aspiration or complicated infection.
authors.affiliation: Department of Legal Medicine, Osaka City University Medical School, Asahi-machi 1-4-3, Abeno, Osaka, 545-8585, Japan. takaki@med.osaka-cu.ac.jp
authors.forename: Takaki
authors.initials: T
authors.lastname: Ishikawa
authors.forename: Bao-Li
authors.initials: BL
authors.lastname: Zhu
authors.forename: Dong-Ri
authors.initials: DR
authors.lastname: Li
authors.forename: Dong
authors.initials: D
authors.lastname: Zhao
authors.forename: Tomomi
authors.initials: T
authors.lastname: Michiue
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Maeda
mesh_terms: D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities*; D003645:Death, Sudden / Q000209:etiology*; D005260:Female; D049429:Forensic Pathology; D006801:Humans; D007223:Infant; D008168:Lung / Q000473:pathology; D053120:Respiratory Aspiration / Q000150:complications; D013577:Syndrome; D014839:Vomiting / Q000150:complications