Juvenile Neuronal Ceroid Lipofuscinosis: A Rare Case Report with Literature Review in a Siblings Pair Having Cardiac Involvement

Mousa Suhail Abu Ghoush^1, , Mahfoud El. Bashari², Amani Alzaabi³ and Mohammed Aboelnaga⁴

¹Zayed Military Hospital, Internal Medicine Resident, Abu Dhabi, United Arab Emirates

²Zayed Military Hospital, Consultant Neurology, Abu Dhabi, United Arab Emirates

³Zayed Military Hospital, Consultant and Head of Department Neurology, Abu Dhabi, United Arab Emirates

⁴Zayed Military Hospital, Specialist Neurology, United Arab Emirates

Cite this paper

Mousa Suhail Abu Ghoush, Mahfoud El. Bashari, Amani Alzaabi and Mohammed Aboelnaga. Juvenile Neuronal Ceroid Lipofuscinosis: A Rare Case Report with Literature Review in a Siblings Pair Having Cardiac Involvement. American Journal of Medical Case Reports. 2020; 8(12):443-446. doi: 10.12691/AJMCR-8-12-2

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^nd 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.

Keywords

epilepsy, neuronal ceroid lipofucinosis, skin biopsy, vision loss, infiltrative cardiac myopathy

Copyright

This work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

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