Juvenile neuronal ceroid-lipofuscinosis (Batten disease): A propos an unusual case diagnosed by electron microscopy
Küçük Resim Yok
Tarih
2004
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
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.
Açıklama
Anahtar Kelimeler
Batten disease, Lysosomal storage disorders, Neuronal ceroid-lipofuscinosis
Kaynak
Current Pediatric Research
WoS Q Değeri
Scopus Q Değeri
N/A
Cilt
8
Sayı
01.Feb
