Juvenile neuronal ceroid-lipofuscinosis (Batten disease): A propos an unusual case diagnosed by electron microscopy

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dc.contributor.authorAteş U.
dc.contributor.authorBaka M.
dc.contributor.authorAktug H.
dc.contributor.authorTurgut M.
dc.contributor.authorTütüncüoglu S.
dc.contributor.authorYurtseven M.
dc.contributor.authorÖktem G.
dc.contributor.authorSerdaroglu G.
dc.date.accessioned2019-10-27T00:13:29Z
dc.date.available2019-10-27T00:13:29Z
dc.date.issued2004
dc.departmentEge Üniversitesien_US
dc.description.abstractNeuronal ceroid-lipofuscinosis, Batten disease, is a lysosomal storage disease which clinically and genetically contains heterogenity. Its differential diagnosis is very difficult with clinical and routine laboratory investigations. The authors present a case of juvenile neuronal ceroid lipofuscinosis in an eight-year-old boy. His speech began to regress at the age of 3, but he had characteristic symptoms including myoclonic epileptic seizures, ataxia, spasticity and pyramidal symptoms at the admission. Electron microscopy study of a skin biopsy demonstrated abnormal myelinisation, some degenerative changes in myelin lamellar structure, increased filamentous structure of unmyelinated axons. This case confirms the usefulness of ultrastructural examination of the skin in the diagnosis of this unusual disorder.en_US
dc.identifier.endpage25en_US
dc.identifier.issn0971-9032
dc.identifier.issn0971-9032en_US
dc.identifier.issue01.Feben_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage23en_US
dc.identifier.urihttps://hdl.handle.net/11454/22472
dc.identifier.volume8en_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.relation.ispartofCurrent Pediatric Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectBatten diseaseen_US
dc.subjectLysosomal storage disordersen_US
dc.subjectNeuronal ceroid-lipofuscinosisen_US
dc.titleJuvenile neuronal ceroid-lipofuscinosis (Batten disease): A propos an unusual case diagnosed by electron microscopyen_US
dc.typeArticleen_US

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