Document Detail

Radiological findings in a case of Menkes' disease.
MedLine Citation:
PMID:  7758009     Owner:  NLM     Status:  MEDLINE    
Menkes' disease, a neurodegenerative progressive X-linked disorder, was diagnosed in a 4-month-old child. The diagnosis was made on the combination of clinical features with laboratory and radiological findings. The pathogenesis of the skeletal findings in Menkes' disease is as yet unclear. Because of the severity of the prognosis and in order to plan treatment, the correct diagnosis has to be reached quickly. Typical manifestations of the syndrome are likely to develop after 3 months of age, with a pleiotropic appearance. In the present case, on the basis of the clinical investigation the patient underwent retrograde cystourethrography, roentgenographic examination of the skeleton, and magnetic resonance imaging of the brain. On analysis of the magnetic resonance imaging, we detected one-sided involvement of both subcortical and cortical parenchyma resembling a unilateral ischemic lesion such as, to our knowledge, has not yet been reported.
F Pinto; A Calderazzi; R Canapicchi; G Taddeucci; E Tarantino
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery     Volume:  11     ISSN:  0256-7040     ISO Abbreviation:  Childs Nerv Syst     Publication Date:  1995 Feb 
Date Detail:
Created Date:  1995-06-26     Completed Date:  1995-06-26     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8503227     Medline TA:  Childs Nerv Syst     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  112-4     Citation Subset:  IM    
Department of Radiology, University of Pisa, Ospedale S. Chiara, Italy.
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MeSH Terms
Brain / pathology
Brain Diseases, Metabolic / diagnosis*,  genetics
Cerebral Cortex / pathology
Magnetic Resonance Imaging*
Menkes Kinky Hair Syndrome / diagnosis*,  genetics
Neurologic Examination
Sex Chromosome Aberrations / genetics
X Chromosome

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

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