@article{ajmcr20208122,
author={{Ghoush, Mousa Suhail Abu and Bashari, Mahfoud El. and Alzaabi, Amani and Aboelnaga, Mohammed},
title={Juvenile Neuronal Ceroid Lipofuscinosis: A Rare Case Report with Literature Review in a Siblings Pair Having Cardiac Involvement},
journal={American Journal of Medical Case Reports},
volume={8},
number={12},
pages={443--446},
year={2020},
url={http://pubs.sciepub.com/ajmcr/8/12/2},
issn={2374-216X},
abstract={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 2<SUP>nd</SUP> 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.},
doi={10.12691/ajmcr-8-12-2}
publisher={Science and Education Publishing}
}