| Neuroradiological findings in classical late infantile neuronal ceroid-lipofuscinosis. | |
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MedLine Citation:
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PMID: 8972537 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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B Petersen; M Handwerker; H I Huppertz |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 15 ISSN: 0887-8994 ISO Abbreviation: Pediatr. Neurol. Publication Date: 1996 Nov |
Date Detail:
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Created Date: 1997-04-02 Completed Date: 1997-04-02 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 344-7 Citation Subset: IM |
Affiliation:
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Children's Hospital, Würzburg, Germany. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Atrophy Basal Ganglia / pathology Brain / pathology* Cerebral Ventricles / pathology Child, Preschool Dominance, Cerebral / physiology Female Follow-Up Studies Humans Neurologic Examination Neuronal Ceroid-Lipofuscinoses / diagnosis* Tomography, X-Ray Computed* |
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