Document Detail


Maternal phenylketonuria: magnetic resonance imaging of the brain in offspring.
MedLine Citation:
PMID:  8648535     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Phenylketonuria (PKU) produces white matter changes identifiable by magnetic resonance imaging. These changes occur postnatally. Offspring of untreated mothers with PKU also have a brain effect, expressed as microcephaly and mental retardation. This effect occurs prenatally. To determine whether the white matter changes seen in PKU are also present in maternal PKU offspring, despite the different developmental stages of exposure to PKU, we performed brain magnetic resonance imaging studies in seven maternal PKU offspring, five from essentially untreated pregnancies and two from treated pregnancies. None had white matter changes, although the one offspring with PKU had delayed myelination. However, hypoplasia of the corpus callosum was present in three of the four offspring from untreated pregnancies and in the offspring from a maternal PKU pregnancy not treated until the third trimester. Unlike PKU, white matter changes are not a feature of the brain effect in maternal PKU. However, hypoplasia of the corpus callosum is a feature of maternal PKU and is probably a result of inhibition of corpus callosum development at 8 to 20 weeks of gestation. The hypoplastic corpus callosum could be a marker for brain effect in maternal PKU and may have implications for the cognitive deficits in these offspring.
Authors:
H L Levy; D Lobbregt; P D Barnes; T Y Poussaint
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  128     ISSN:  0022-3476     ISO Abbreviation:  J. Pediatr.     Publication Date:  1996 Jun 
Date Detail:
Created Date:  1996-07-24     Completed Date:  1996-07-24     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  770-5     Citation Subset:  AIM; IM    
Affiliation:
Genetic and Radiology Services, Children's Hospital, Boston, Massachusetts 02115, USA.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Brain / pathology*
Child
Corpus Callosum / abnormalities,  pathology
Female
Follow-Up Studies
Humans
Infant
Magnetic Resonance Imaging*
Male
Mental Retardation / diagnosis,  genetics*,  prevention & control
Microcephaly / diagnosis,  genetics*,  prevention & control
Mothers*
Phenylalanine / administration & dosage
Phenylketonurias / diagnosis,  diet therapy,  genetics*
Pregnancy
Prenatal Exposure Delayed Effects*
Grant Support
ID/Acronym/Agency:
N01-HD-2-3149/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
63-91-2/Phenylalanine

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


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