Clinicopathological study of neuronal ceroid lipofuscinosis in Egyptian patients, role of gingival biopsy

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.