MFSD8 Mutation Causing Neuronal Ceroid Lipofuscinosis Type 7 in a Bangladeshi Patient: A Rare Case Report and Review of Literature

Bithi Debnath^1, , Ramesh Chandra Nath², Seikh Azimul Hoque¹ and Narayan Chandra Saha¹

¹Department of Pediatric Neurology, National Institute of Neurosciences and Hospital, Dhaka-1207

²Barishal Medical College Hospital, Barishal, Bangladesh

Cite this paper

Bithi Debnath, Ramesh Chandra Nath, Seikh Azimul Hoque and Narayan Chandra Saha. MFSD8 Mutation Causing Neuronal Ceroid Lipofuscinosis Type 7 in a Bangladeshi Patient: A Rare Case Report and Review of Literature. American Journal of Medical Case Reports. 2020; 8(12):508-511. doi: 10.12691/AJMCR-8-12-21

Abstract

The neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of inherited neurodegenerative disorders. Their unifying clinical hallmarks are seizures, visual loss, myoclonus, ataxia, cognitive and motor regression which lead to early death. Based on the clinical onset of symptoms NCL-affected individuals have been classified into six categories. Fourteen genetic forms of NCL (CLN1 to CLN14) have been identified so far. The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8) and CLN8 mutations.We report a patient of 9 years from a consanguineous family who presented with progressive visual loss and seizures. Clinical Exome sequencing reveals a homozygous missense mutation in exon 11 of the MFSD8 gene (c.1235C>T, p.Pro412Leu). To our knowledge, this is the first report of MFSD8 gene mutation in a Bangladeshi patient with variant late-infantile NCL. This study also provides information regarding the phenotypic and molecular spectrum of CLN7 disease.

Keywords

Neuronal ceroid lipofuscinosis (NCL), MFSD8, CLN7, Variant late-infantile NCL, visual loss, exome sequencing

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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