| Neuronal ceroid lipofuscinosis diagnosed via skin biopsy. | |
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MedLine Citation:
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PMID: 20800490 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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We aim to report that skin biopsy, a non-invasive test by neurological standards, may lead to a diagnosis. A 4-year-old male presented with a 2-year history of epilepsy and progressive developmental regression. The patient had a mildly elevated ammonia level; however, evaluation for the accumulation of excess serum amino acids and evaluation of urine for organic acids was negative. MRI revealed cerebral atrophy, and an electroencephalogram demonstrated multifocal sharp and slow waves. Due to the progressive degenerative neurologic presentation, a neurologic storage disease was favored. An axillary skin biopsy was performed, revealing eosinophilic intra-cytoplasmic inclusions within the eccrine glands. A periodic acid-Schiff stain also highlighted these inclusions. Electron microscopic studies demonstrated characteristic multiple membrane-bound inclusions within the eccrine epithelial cells, containing curvilinear inclusion material characteristic of neuronal ceroid lipofuscinosis. The clinical, histological, electron microscopic and enzymatic studies were diagnostic of late-infantile onset neuronal ceroid lipofuscinosis. |
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Authors:
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Puja K Puri; C Leilani Valdes; M Angelica Selim; Rex C Bentley |
Publication Detail:
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Type: Journal Article Date: 2010-08-25 |
Journal Detail:
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Title: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia Volume: 17 ISSN: 1532-2653 ISO Abbreviation: J Clin Neurosci Publication Date: 2010 Dec |
Date Detail:
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Created Date: 2010-11-01 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9433352 Medline TA: J Clin Neurosci Country: Scotland |
Other Details:
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Languages: eng Pagination: 1585-7 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Elsevier Ltd. All rights reserved. |
Affiliation:
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Department of Pathology, Duke University Medical Center, Durham, North Carolina 27710, USA. puja.puri@duke.edu |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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