Back to Search
Start Over
An autopsy case of an infant with Joubert syndrome who died unexpectedly and a review of the literature
- Source :
- Forensic Science International. 179:e67-e73
- Publication Year :
- 2008
- Publisher :
- Elsevier BV, 2008.
-
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.
- Subjects :
- Pathology
medicine.medical_specialty
Forensic pathology
Cerebellum
Pediatrics
Vomiting
Neurological disorder
Joubert syndrome
Pathology and Forensic Medicine
Death, Sudden
medicine
Humans
Forensic Pathology
Lung
Cause of death
business.industry
Respiratory Aspiration
Brain
Infant
Syndrome
Aplasia
medicine.disease
Hypoplasia
medicine.anatomical_structure
Cerebellar vermis
Female
business
Law
Subjects
Details
- ISSN :
- 03790738
- Volume :
- 179
- Database :
- OpenAIRE
- Journal :
- Forensic Science International
- Accession number :
- edsair.doi.dedup.....c733b613d64328d123c61bf4b473d549