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Phenotypic and Genetic Characterization of 64 Egyptian Children With Neuronal Ceroid Lipofuscinosis.

Pediatric neurology - 1 Oct 2026

Abdelkreem Elsayed, Sadek Abdelrahim A, Aladawy Mohammed A, Rezk Ziad N, Salamah Abeer, Rafat Karima, Magdy Rofaida M, Issa Mahmoud Y, El Hadad Ali Farrag, Elbendary Hasnaa M, Mansour Tarek Mohamed M, Bakri Ali Helmi, Abdel-Hamid Mohamed S, Zaki Maha S

Abstract excerpt

BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) are the most common neurodegenerative diseases in childhood. This study aimed to investigate the phenotypic and genetic spectrum of NCLs in Egypt. METHODS: This descriptive study involved children with NCLs diagnosed and managed at five Egyptian centers between 2019 and 2024. Demographic, clinical, brain imaging, and genetic data were systematically evaluated....

Read the complete abstract on PubMed

Topics

Humans
Neuronal Ceroid-Lipofuscinoses
Egypt
Male
Female

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Child

Phenotype

Child, Preschool

Tripeptidyl-Peptidase 1

Adolescent

Dipeptidyl-Peptidases and Tripeptidyl-Peptidases

Source

Identifiers

PMID: 42551284
DOI: 10.1016/j.pediatrneurol.2026.07.005

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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