R. Abikassem

A Novel Homozygous HERC2 c.4660C>T (p. Arg1554Ter) Variant in an Infant with Severe Neurodevelopmental Disorder and Diffuse Osteopenia: A Case Report

Abdillahi Moustapha, A. Laaraj, A. Radi & R. Abikassem · Asian Journal of Pediatric Research · 2026

Background: HERC2-related intellectual developmental disorder is a rare autosomal recessive neurodevelopmental condition, and its full phenotypic spectrum remains incompletely defined. Case Presentation: We report a 7-month-old female infant born to second-degree consanguineous p...

Open access Research Article 10.9734/ajpr/2026/v16i10582

Familial Hypomagnesemia with Secondary Hypocalcemia: A Challenging Medical Affair

S. Aithmadouch, A.laaraj, A. Radi & R. Abikassem · Asian Journal of Advanced Research and Reports · 2024

Familial or genetic hypomagnesemia with secondary hypocalcemia is a disease typically presenting with epilepsy and characterized by low blood levels of magnesium and calcium and metabolic bone disease, and is caused by mutations in the TRPM6 genes. Various factors such as low die...

Open access Research Article 10.9734/ajarr/2024/v18i12838

Portal Cavernoma in Children: Rare Pathology with Complex Management about 3 Cases

S. Aithmadouch, A. Radi, K. Larbiouassou & R. Abikassem · Asian Journal of Advanced Research and Reports · 2024

We report 03 cases of portal cavernoma hospitalized in pediatric department. Through these observations, we will try to describe the different clinical and biological aspects and discuss the diagnostic and therapeutic approaches through a literature review. Somatic examination re...

Open access Research Article 10.9734/ajarr/2024/v18i12815