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

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/

References:

[1]	Williams RE, Goebel HH, Mole SE. NCL nomenclature and classification. In: The Neuronal Ceroid Lipofuscinoses (Batten Disease), 2nd ed, Mole SE, Williams RE, Goebel HH (Eds), Oxford University Press, Oxford 2011. p.20.
[2]	The Neuronal Ceroid Lipofuscinoses (Batten Disease), 2nd ed, Mole SE, Williams RE, Goebel HH (Eds), Oxford University Press, Oxford 2011.
[3]	Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.Santorelli FM, Garavaglia B, Cardona F, Nardocci N, Bernardina BD, Sartori S, Suppiej A, Bertini E, Claps D, Battini R, Biancheri R, Filocamo M, Pezzini F, Simonati A Orphanet J Rare Dis. 2013;8:19. Epub 2013 Feb 2.
[4]	Adams HR, Kwon J, Marshall FJ, de Blieck EA, Pearce DA, Mink JW. Neuropsychological symptoms of juvenile-onset batten disease: experiences from 2 studies. J Child Neurol. 2007; 22(5): 621-627.
[5]	Moore SJ, Buckley DJ, MacMillan A, Marshall HD, Steele L, Ray PN, Nawaz Z, Baskin B, Frecker M, Carr SM, Ives E, Parfrey PS. The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. Clin Genet 2008: 74: 213-222.
[6]	Peltonen L, Savukoski M, Vesa J. Genetics of the neuronal ceroid lipofuscinoses. Curr Opin Genet Dev. 2000; 10: 299-305.
[7]	Wisniewski KE, Kida E, Golabek AA, Kaczmarski W, Connell F, Zhong N. Neuronal ceroid lipofuscinoses: Classification and diagnosis. Adv Genet. 2001; 45: 1-34.
[8]	J.R. Ostergaard, T.B. Rasmussen, H. Mølgaard Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease) Neurology, 76 (2011), pp. 1245-1251.
[9]	Worgall S, Kekatpure MV, Heier L, Ballon D, Dyke JP, Shungu D, et al. Neurological deterioration in late infantile neuronal ceroid lipofuscinosis. Neurology. 2007; 69: 521-35.
[10]	Goebel HH.The neuronal ceroid-lipofuscinoses.Semin Pediatr Neurol1996; 3: 270 8.
[11]	Marshall FJ, de Blieck EA, Mink JW, et al. A clinical rating scale for Batten disease: reliable and relevant for clinical trials. Neurology. 2005; 65: 275-279.