Document Detail

Aicardi syndrome associated with anterior cephalocele in a female infant.
MedLine Citation:
PMID:  17518934     Owner:  NLM     Status:  MEDLINE    
Aicardi syndrome is a triad of abnormalities that includes total or partial agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. This syndrome was first described in 1965. A female infant with Aicardi syndrome associated with a nasoethmoidal cephalocele is described in this report. She presented with a history of unilateral nasal discharge since birth and seizures since age 1 week. She was microcephalic and there was visual impairment. A fleshy mass of the left nostril was noted. Ophthalmological evaluation revealed left exotropia, dysplastic optic discs and retina, 'morning glory' appearance of the left optic disc, and bilateral chorioretinal lacunae. Magnetic resonance imaging of the brain showed absence of the corpus callosum, dysmorphic changes of the lateral ventricles, a superiorly located third ventricle, heterotopic grey matter of the frontal lobes, a left nasoethmoidal cephalocele, and closed lip schizencephaly of the left frontal lobe. This female infant developed asymmetric infantile spasms at age 8 weeks. Surgical correction of the cephalocele was declined. She developed recurrent pneumonias secondary to aspiration of feeds and died at age 8 months during one of these events.
R Melbourne-Chambers; I Singh Minott; L Mowatt; P Johnson; M Thame
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Developmental medicine and child neurology     Volume:  49     ISSN:  0012-1622     ISO Abbreviation:  Dev Med Child Neurol     Publication Date:  2007 Jun 
Date Detail:
Created Date:  2007-05-23     Completed Date:  2007-07-05     Revised Date:  2009-11-11    
Medline Journal Info:
Nlm Unique ID:  0006761     Medline TA:  Dev Med Child Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  464-6     Citation Subset:  IM    
Department of Obstetrics, Gynaecology, and Child Health, University of the West Indies, Kingston, Jamaica.
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MeSH Terms
Cerebral Ventricles / pathology
Choroid / abnormalities*
Corpus Callosum / abnormalities*
Encephalocele / complications*,  physiopathology*
Ethmoid Sinus / abnormalities*
Exotropia / complications
Fatal Outcome
Functional Laterality / physiology
Infant, Newborn
Magnetic Resonance Imaging
Retina / abnormalities*
Spasms, Infantile / complications*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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