S. Ait Hmadouch

Phenotype-Genotype Correlation in a Case of Infantile Hypotonia and Epilepsy: A Study of the Clinical Significance of Two Variants of Uncertain Significance in HIVEP2 and LINGO1

S. El Bouhali, A. Laaraje, A. Radi, S. Ait Hmadouch & R. Abilkassem · Asian Journal of Pediatric Research · 2025

Genetic causes of neurodevelopmental disorders are frequent and complex. We Report The case of a 10-month-old infant followed for psychomotor delay, severe hypotonia, spastic movements of the lower limbs, and focal seizure with impaired consciousness. Whole-exome sequencing revea...

Open access Research Article 10.9734/ajpr/2025/v15i6458

Prevalence and Clinical Features of Glaucoma in Pediatric Mucopolysaccharidosis Type I: A Retrospective Descriptive Study

Y. Achegri, A. Bouimtarhan, S. Azib, C. Bouabbadi, I. Jeddou, A. El Khoyaali, A. Fiqhi, Y. Mouzari, S. Ait Hmadouch, A. Radi, A. Laaraj & R. Abilkassem · Asian Journal of Advanced Research and Reports · 2025

Objective: To evaluate the prevalence, clinical characteristics, diagnostic challenges, and therapeutic outcomes of glaucoma in children diagnosed with mucopolysaccharidosis type I          (MPS I). Methods: A retrospective descriptive study was conducted on 12 pediatric patients...

Open access Research Article 10.9734/ajarr/2025/v19i111212