Document Detail

Maternal phenylketonuria: magnetic resonance imaging of the brain in offspring.
MedLine Citation:
PMID:  8648535     Owner:  NLM     Status:  MEDLINE    
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.
H L Levy; D Lobbregt; P D Barnes; T Y Poussaint
Related Documents :
25317815 - Peripheral neuropathy in obstetrics: efficacy and safety of α-lipoic acid supplementat...
22484055 - Detection of early pregnancy-specific proteins in holstein milk.
19674195 - Maternal pre-pregnancy obesity and risk for inattention and negative emotionality in ch...
25320695 - Disseminated herpes simplex infection during pregnancy, rare but important to recognise.
14597255 - Multiple myeloma diagnosed during early pregnancy: a case report.
24688205 - Fetal demise due to cord entanglement in the early second trimester.
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    
Genetic and Radiology Services, Children's Hospital, Boston, Massachusetts 02115, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Brain / pathology*
Corpus Callosum / abnormalities,  pathology
Follow-Up Studies
Magnetic Resonance Imaging*
Mental Retardation / diagnosis,  genetics*,  prevention & control
Microcephaly / diagnosis,  genetics*,  prevention & control
Phenylalanine / administration & dosage
Phenylketonurias / diagnosis,  diet therapy,  genetics*
Prenatal Exposure Delayed Effects*
Grant Support
Reg. No./Substance:

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

Previous Document:  Granulocyte colony-stimulating factor as a marker for bacterial infection in neonates.
Next Document:  Long-term sequelae of hearing impairment in congenital hypothyroidism.