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-mon...
Open access
Research Article10.9734/ajpr/2026/v16i10577
Noura Agarrab, Azzeddine Laaraje, Radi Abdelilah, Soukaina Ait Hmadouch, Amal Hassani & Rachid Abilkassem·Asian Journal of Pediatric Research·2025
Ataxia with oculomotor apraxia type 1 (AOA1) is a rare neurodegenerative disease with autosomal recessive inheritance, caused by mutations in the APTX gene encoding aprataxin, a protein involved in DNA repair. We report the case of a 5-year-old child born to consanguineous parent...
Open access
Research Article10.9734/ajpr/2025/v15i6456
Aims: To describe a paediatric case of spontaneous periodic hypothermia (Shapiro's syndrome) occurring in the absence of agenesis of the corpus callosum, and to review the relevant literature and diagnostic approach. Presentation of Case: A 2-year-and-9-month-old boy, previously...
Open access
Research Article10.9734/ajpr/2026/v16i10576