Late Infantile Neuronal Ceroid Lipofuscinosis in a Filipino Child with Epilepsy and Progressive Neurodegeneration

Authors

  • Mary Anne D. Chiong
  • Benilda C. Sanchez-Gan

DOI:

https://doi.org/10.47895/amp.v51i3.565

Keywords:

Late infantile neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis type 2, Tripeptidyl peptidase 1

Abstract

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.

Downloads

Published

2017-09-29

Issue

Section

Articles

How to Cite

1.
Late Infantile Neuronal Ceroid Lipofuscinosis in a Filipino Child with Epilepsy and Progressive Neurodegeneration . Acta Med Philipp [Internet]. 2017 Sep. 29 [cited 2025 Apr. 4];51(3). Available from: https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/565

Most read articles by the same author(s)

1 2 3 4 > >>