Publication: A Rare Case Report of Siblings with Infantile and Late Infantile Forms of Neuronal Ceroid Lipofuscinoses
Date
2013
Article Type
Case Report
Journal Title
Journal ISSN
ISSN 1990-7974 eISSN 1990-7982
Volume Title
Pages
Pages: 220 - 222
Publisher
Nepal Paediatric Society (JNPS)
Abstract
Abstract:
Neuronal Ceroid Lipofuscinoses is a neurodegenerative disorder predominantly involving grey matter. The 4 classic forms are Infantile type, Late Infantile type, Juvenile type and Adult type. We present a case of 3 siblings of unrelated parents where the eldest had Infantile form of NCL, the second child had Late Infantile Form, and the third child is normal. Both children having different phenotypic presentations have curvilinear inclusion bodies on EM of axillary skin biopsy, low levels of tripeptidyl amino peptidase 1(TPP1) and normal levels of palmitoyl protein thioesterase 1(PPT1), a finding classically present in the Late Infantile variety involving CLN2 mutation. After extensive search we failed to find a case report describing a similar finding.
Description
Moumita Ghosh
RMO-cum Clinical Tutor, Medical College Kolkata, West Bengal
Jasodhara Chowdhury
Paediatric Medicine, Senior Resident, Medical College Kolkata, West Bengal
Shubhadeep Das
RMO-cum Clinical Tutor, Chittaranjan Sishu Sadan, Kolkata
Mukut Banerjee
RMO-cum Clinical Tutor, Burdwan Medical College, West Bengal
Swapna Chakraborty
Professor, Medical College Kolkata West Bengal
Keywords
Identifier
https://doi.org/10.3126/jnps.v33i3.7924