کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
97633 160501 2008 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
An autopsy case of an infant with Joubert syndrome who died unexpectedly and a review of the literature
موضوعات مرتبط
مهندسی و علوم پایه شیمی شیمی آنالیزی یا شیمی تجزیه
پیش نمایش صفحه اول مقاله
An autopsy case of an infant with Joubert syndrome who died unexpectedly and a review of the literature
چکیده انگلیسی

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Forensic Science International - Volume 179, Issues 2–3, 6 August 2008, Pages e67–e73
نویسندگان
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