Document Detail


Septo-optic dysplasia with digital anomalies associated with maternal multidrug abuse during pregnancy.
MedLine Citation:
PMID:  12453085     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe a 16-year-old female affected by septo-optic dysplasia (SOD) with digital anomalies as additional feature. This rare developmental anomaly of midline brain structures can result from different pathogenetical events, including mutations of the homeo box gene HESX1, recently suggested as the etiological cause at least in a subset of patients. The absence of mutational involvement of this gene in our patient led us to consider, in alternative terms of pathogenesis, the maternal multidrug abuse occurring during pregnancy. Our report, in accord with previous experimental evidences, points out that illicit drug use might have played a causative role in brain development anomalies, thus our patient could represent an additional case of birth defects caused by a prenatal toxic exposure. The neurologic abnormalities and the clinical history of the patient are extensively reviewed. The need to include the SOD phenotype amongst the possible teratogenic effects of multidrug abuse is evidenced.
Authors:
A Orrico; L Galli; M Zappella; L Monti; G P Vatti; C Venturi; G Hayek
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  European journal of neurology : the official journal of the European Federation of Neurological Societies     Volume:  9     ISSN:  1351-5101     ISO Abbreviation:  Eur. J. Neurol.     Publication Date:  2002 Nov 
Date Detail:
Created Date:  2002-11-27     Completed Date:  2003-02-10     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9506311     Medline TA:  Eur J Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  679-82     Citation Subset:  IM    
Affiliation:
Medical Genetics, Univerisity of Siena and Azienda Ospedaliera Senese, Italy. orrico@unisi.it
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Drug-Induced*
Adolescent
Female
Humans
Limb Deformities, Congenital / chemically induced*
Mental Retardation / etiology
Pregnancy
Pregnancy Complications*
Septo-Optic Dysplasia / chemically induced*
Street Drugs / adverse effects*
Substance-Related Disorders*
Chemical
Reg. No./Substance:
0/Street Drugs

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


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