Juvenile neuronal ceroid-lipofuscinosis (Batten disease): A propos an unusual case diagnosed by electron microscopy
Makaleler > Tam Makale · 2004
Yazarlar: UTKU ATEŞ, Meral Baka, Hüseyin AKTUĞ, Mehmet Turgut, Sarenur Tütüncüoǧlu, Mine Yurtseven, Gülperi ÖKTEM, Gül Serdaroǧlu
Current Pediatric Research, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Scopus, 2004, cilt 8, ss 23-25
Özet
Neuronal 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.