Abstract
Neuronal ceroid lipofuscinosis (Batten disease, NCL) represents a group of common
childhood neurodegenerative diseases with a shared feature of deposition of abnormal
metabolic products in neurons and other tissues, including peripheral blood lymphocytes.
Clinical findings and pathological features of 12 Egyptian patients affected with
NCL are reviewed. The patient group included three children affected with the late-infantile
form of NCL, five patients affected with the juvenile form NCL, and four infantile
cases. Ultrastructural examination of gingival biopsies revealed the characteristic
deposits in fibroblasts and the endothelial cells. In spite of recent advances in
immunohistochemical identification of biochemical markers, the ultrastructural identification
of lipofuscinic pigments in an easily accessible tissue like the gingiva or skin remains
the gold standard to identify NCL, together with clinical aspects.
Keywords
Neuronal ceroid lipofuscinosis - gingival biopsy - electron microscopy
