Document Detail

An autopsy case of an infant with Joubert syndrome who died unexpectedly and a review of the literature.
MedLine Citation:
PMID:  18639400     Owner:  NLM     Status:  MEDLINE    
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.
Takaki Ishikawa; Bao-Li Zhu; Dong-Ri Li; Dong Zhao; Tomomi Michiue; Hitoshi Maeda
Publication Detail:
Type:  Case Reports; Journal Article; Review     Date:  2008-07-17
Journal Detail:
Title:  Forensic science international     Volume:  179     ISSN:  1872-6283     ISO Abbreviation:  Forensic Sci. Int.     Publication Date:  2008 Aug 
Date Detail:
Created Date:  2008-07-29     Completed Date:  2008-10-16     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7902034     Medline TA:  Forensic Sci Int     Country:  Ireland    
Other Details:
Languages:  eng     Pagination:  e67-73     Citation Subset:  IM    
Department of Legal Medicine, Osaka City University Medical School, Asahi-machi 1-4-3, Abeno, Osaka, 545-8585, Japan.
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MeSH Terms
Brain / pathology
Cerebellum / abnormalities*
Death, Sudden / etiology*
Forensic Pathology
Lung / pathology
Respiratory Aspiration / complications
Vomiting / complications

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