Open AccessLate Infantile Neuronal Ceroid Lipofuscinosis in a Filipino Child with Epilepsy and Progressive Neurodegeneration
Author(s) -
Mary Anne D. Chiong,
Benilda Sanchez-Gan
Publication year - 2017
Publication title -
acta medica philippina/acta medica philippina
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.128
H-Index - 4
eISSN - 2094-9278
pISSN - 0001-6071
DOI - 10.47895/amp.v51i3.565
Subject(s) - neuronal ceroid lipofuscinosis , neurodegeneration , batten disease , lipofuscin , ataxia , pediatrics , epilepsy , medicine , neuroscience , cognitive decline , psychology , audiology , pathology , disease , dementia
The neuronal ceroid lipofuscinoses correspond to a group of disorders characterized by neurodegeneration and intracellular buildup of auto-flourescent lipopigment (ceroid lipofuscin). They are classified by age of onset into infantile, late infantile, juvenile and adult forms. Among these, the late infantile type is caused by mutations in tripeptidyl peptidase 1 (TPP1) gene and is characterized by age of onset between 2-4 years, seizures, early progressive cognitive impairment and visual loss. Our patient is a 4-year-old girl who presented at 2 years and 10 months old with seizures followed by ataxia, regression of skills and eventual visual decline. TPP1 enzyme activity was below normal for age. This report aims to increase the awareness of physicians on the cluster of symptoms characteristic of this disorder which will help facilitate early diagnosis and prompt institution of appropriate management.