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.
journal_name
Forensic Sci Intjournal_title
Forensic science internationalauthors
Ishikawa T,Zhu BL,Li DR,Zhao D,Michiue T,Maeda Hdoi
10.1016/j.forsciint.2008.06.003subject
Has Abstractpub_date
2008-08-06 00:00:00pages
e67-73issue
2-3eissn
0379-0738issn
1872-6283pii
S0379-0738(08)00269-7journal_volume
179pub_type
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