Document Detail

Neuroradiological findings in classical late infantile neuronal ceroid-lipofuscinosis.
MedLine Citation:
PMID:  8972537     Owner:  NLM     Status:  MEDLINE    
We describe a girl aged 5 years, 6 months who began to have seizures at the age of 3 years, 9 months. A cranial CT scan revealed mild, generalized cerebral atrophy. During the next year, she gradually developed ataxia, myoclonic jerks, and bilateral optic nerve atrophy and lost motor skills. A second CT scan performed 12 months after the onset of first symptoms revealed marked progression of cerebral atrophy, especially in the infratentorial area. MRI demonstrated bilateral, periventricular hyperintensities in the T2-weighted images but no changes in the basal ganglia. Electron microscopic investigations of skin biopsies demonstrated curvilinear bodies, confirming the suspected diagnosis of late infantile neuronal ceroid-lipofuscinosis (LINCL). Predominance of cerebral atrophy in the infratentorial area is typical of LINCL. Periventricular white matter lesions may be evident on MRI scans of patients with classical and LINCL-variant disease. In contrast to neuroradiological findings in patients with LINCL-variant disease, findings in patients with classical LINCL revealed no changes in the basal ganglia.
B Petersen; M Handwerker; H I Huppertz
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  15     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  1996 Nov 
Date Detail:
Created Date:  1997-04-02     Completed Date:  1997-04-02     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  344-7     Citation Subset:  IM    
Children's Hospital, Würzburg, Germany.
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MeSH Terms
Basal Ganglia / pathology
Brain / pathology*
Cerebral Ventricles / pathology
Child, Preschool
Dominance, Cerebral / physiology
Follow-Up Studies
Neurologic Examination
Neuronal Ceroid-Lipofuscinoses / diagnosis*
Tomography, X-Ray Computed*

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

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