Document Detail

Agenesis of the corpus callosum and cerebral anomalies in inborn errors of metabolism.
MedLine Citation:
PMID:  17988254     Owner:  NLM     Status:  MEDLINE    
Dysgenesis of the corpus callosum has been recognized as a marker for aberrant development of the central nervous system. It has been suggested that developmental defects of the corpus callosum may be more frequently encountered in patients with inborn errors of metabolism. The objectives of the present study were to determine the prevalence of developmental defects of the corpus callosum in patients attending a genetics-metabolic disorders clinic, to describe the spectrum of abnormalities in brain development in patients with confirmed inborn errors of metabolism and abnormalities of the corpus callosum as ascertained by neuroimaging and/or postmortem studies. Nineteen patients (10 males, 9 females) with confirmed metabolic diagnoses were identified by systematic search of the genetics clinic database. All 19 (100%) expressed variable degrees of hypoplasia, complete or partial agenesis (ACC). Abnormalities of head size were noted in 17/19 (89.5%). The majority 12/17 (70.5%) were associated with microcephaly, while macrocrania was noted in 5/17 (29.5%). Associated central nervous system (CNS) anomalies included abnormalities in ventricular morphology in 18/19 (94.7%), ventriculomegaly in 11/19 (63.1%), increased extraxial cerebrospinal fluid space in 11/19 (57.9%), changes in the gray matter (neuronal migration defects, porencephaly) in 9/19 (47.3%), white matter changes in 12/19 (63.1%) and abnormalities of the posterior fossa and hindbrain in 12/19 (63.1%). In patients with inborn errors of metabolism, dysgenesis of the corpus callosum serves as a marker for other developmental defects within the nervous system. We discuss here potential mechanisms by which metabolic defects affect diverse biochemical pathways, altering key neurobiological processes (e.g. defective cell membrane formation, cellular bioenergetics and cell-to-cell signaling), that eventually lead to structural abnormalities in the developing nervous system.
Asuri N Prasad; Kelly Bunzeluk; Chitra Prasad; Bernard N Chodirker; Kenneth G Magnus; Cheryl R Greenberg
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Congenital anomalies     Volume:  47     ISSN:  0914-3505     ISO Abbreviation:  Congenit Anom (Kyoto)     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2007-11-08     Completed Date:  2008-03-05     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9306292     Medline TA:  Congenit Anom (Kyoto)     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  125-35     Citation Subset:  IM    
Section of Clinical Neurosciences, Department of Pediatrics and Child Health, Unviersity of Western Ontario, London, ON, Canada.
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MeSH Terms
Brain Diseases, Metabolic, Inborn / pathology*
Corpus Callosum / abnormalities*,  pathology
Magnetic Resonance Imaging
Models, Biological
Retrospective Studies

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