Author

A. Laaraje

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Case report Open access Oct 2026

Pediatric Fabry disease revealed by early neuropathic symptoms: a case report

Abstract Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A deficiency, resulting in progressive glycosphingolipid accumulation and multisystem morbidity. Early pediatric manifestations are frequently overlooked, delaying treatment and increasing the risk of irreversible organ...

I. Mezdaoui, Abdelilah Radi, S. Babour et al. · Oxford Medical Case Reports · 0 citations

Open access Sep 2026

Early-Onset Seizures Revealing 1p36 Deletion Syndrome in an Infant with Craniofacial Dysmorphism and Optic Disc Coloboma: A Case Report

Aims: To describe an infant in whom early-onset seizures led to the diagnosis of 1p36 deletion syndrome and to emphasise the diagnostic contribution of whole-exome sequencing with copy-number variation analysis when the early phenotype is incomplete. Presentation of Case: A 2-month-old male infant was admitted for gen...

Safae Abdessadek, A. Laaraje, Abdelilah Radi et al. · Asian Journal of Pediatric R... · 0 citations