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

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