Late infantile neuronal ceroid lipofuscinosis: A case report with review of literature

• Main Authors: Rajesh Verma, Tushar Premraj Raut, Navin Tiwari, Kiran Preet Malhotra, Nuzhat Hussain, Hardeep Singh Malhotra
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2013-01-01
• Series: Annals of Indian Academy of Neurology
• Subjects: Ataxia; epilepsy; neuronal ceroid lipofucinosis; skin biopsy; vision loss
• Online Access: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2013;volume=16;issue=2;spage=282;epage=285;aulast=Verma

Neuronal ceroid lipofuscinosis (NCL) are a group of genetically mediated neurodegenerative disorders affecting children and young adults. They are characterized by global mental and motor deterioration, vision loss, and epilepsy ultimately resulting in death. Of the various types, late infantile variety is the 2 nd most common form of NCL. Here the authors report a case of a 9-year-old boy who presented with progressive mental and social deterioration since the age of 2½ years. As the disease progressed, he developed progressive vision loss, gait ataxia, action myoclonus, and epilepsy. Electroencephalogram revealed generalized sharp and slow wave discharges with background slowing. Magnetic resonance imaging of the brain revealed diffuse cerebral and cerebellar atrophy markedly affecting the cerebellum along with periventricular T2 hyperintensities. Skin biopsy from axilla revealed characteristic intracytoplasmic eosinophilic inclusions and periodic acid Schiff positive bodies within the eccrine ducts suggestive of NCL.