eng Science and Education Publishing American Journal of Medical Case Reports 2374-216X 2020-08-18 8 12 443 446 10.12691/ajmcr-8-12-2 AJMCR20208122 article Mousa Suhail Abu Ghoush mousasuhail@hotmail.com 1 Mahfoud El. Bashari 2 Amani Alzaabi 3 Mohammed Aboelnaga 4 Zayed Military Hospital, Internal Medicine Resident, Abu Dhabi, United Arab Emirates Zayed Military Hospital, Consultant Neurology, Abu Dhabi, United Arab Emirates Zayed Military Hospital, Consultant and Head of Department Neurology, Abu Dhabi, United Arab Emirates Zayed Military Hospital, Specialist Neurology, United Arab Emirates Neuronal ceroid lipofuscinosis (NCL) are a group of genetically mediated neurodegenerative disorders affecting children and young adults. They are characterized by progressive vision, cognitive deterioration and epilepsy ultimately resulting in death. Of the various types, late infantile variety is the 2nd most common form of NCL. Here we report a case of an 18-year-old boy along with his elder sister who presented to the neurology clinic with progressive mental and social deterioration since the age of 5-6 years. As the disease progressed, he developed progressive vision loss, cognitive decline, behavioral changes and epilepsy. Skin biopsy from the thigh revealed characteristic curvilinear and fingerprint inclusion bodies suggestive of NCL. This case highlights a rare entity of neurodegenerative disorders with cardiac involvement. http://pubs.sciepub.com/ajmcr/8/12/2/ajmcr-8-12-2.pdf epilepsy neuronal ceroid lipofucinosis skin biopsy vision loss infiltrative cardiac myopathy