A Rare Case Report of Siblings with Infantile and Late Infantile Forms of Neuronal Ceroid Lipofuscinoses

Jasodhara Chowdhury,Moumita Ghosh,Mukut Banerjee,Shubhadeep Das,Swapna Chakraborty

doi:10.3126/jnps.v33i3.7924

Jasodhara Chowdhury, Moumita Ghosh + Show 3 more

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https://doi.org/10.3126/jnps.v33i3.7924

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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. DOI: http://dx.doi.org/10.3126/jnps.v33i3.7924 J. Nepal Paediatr. Soc. 2013;33(3):220-222

Highlights

Neuronal Ceroid Lipofuscinoses (NCL) is a neurodegenerative disorder predominantly involving gray matter
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
NCL is characterized by seizures, predominantly myoclonic, generalised tonic clonic seizures (GTCS) and akinetic seizures, loss of cognition and skills, ataxia, visual impairment and premature death within [6-10] years

Summary

Introduction

Neuronal Ceroid Lipofuscinoses (NCL) is a neurodegenerative disorder predominantly involving gray matter. 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. A 4 years old female child was admitted in our hospital with status epilepticus She was born out of non-consanguineous marriage and delivered at term with an uneventful pre and perinatal period.

Discussion

Conclusion