Affiliations: Faculty of Medicine, Department of Pathology, Ain
Shams University, Cairo, Egypt
Note: [] Correspondence: Dr. Nadia G. Elhefnawy, M.D., P.O Box 58,
postal code 11811, Panorama of October, Cairo, Egypt. Tel.: +20 0020 24096058;
Fax: +20 202 22605805; E-mail: [email protected]
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
