Macrophage Activation Syndrome (MAS), or Haemophagocytosis Syndrome, is a clinical-biological entity characterized by the proliferation and non-specific activation of macrophages of the reticulo-histiocytic system, with phagocytosis of the blood elements formed. This syndrome can...
Open access
Research Article10.9734/ajpr/2022/v9i330266
Pycnodysostosis is a rare genetic disease, caused by a mutation of the cathepsin K gene which is involved in bone renewal. It is associated with dwarfism and bone fragility, but the association with a stridor is exceptional. We report the case of a child treated for stridor with...
Open access
Research Article10.9734/ajpr/2022/v8i430249
Primary distal renal tubular acidosis (dRTA) is a rare genetic disease characterized by distal tubular dysfunction leading to metabolic acidosis and alkaline urine. It is associated with impaired acid excretion by the intercalated cells in the renal collecting duct. dRTA is dev...
Open access
Research Article10.9734/ajpr/2021/v6i430200
We report the case of a female child with congenital isolated malabsorption of folic acid. The patient was referred to our hospital for pancytopenia and a tendency to various infections, but with no neurological disturbances. A bone marrow aspiration demonstrated megalobastic ane...
Open access
Research Article10.9734/ajpr/2020/v4i130139
Objectives: To describe the clinical presentation, diagnostic journey, and outcomes of five pediatric patients with Kartagener syndrome (KS), in order to highlight the challenges of early diagnosis and multidisciplinary management within a Moroccan context. Study Design: Descript...
Open access
Research Article10.9734/ajpr/2025/v15i8471
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
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
Torsion of the ovary is a rare condition whose diagnosis remains difficult given the non-specificity of the clinical picture as well as the difficulty of clinical evaluation, especially in young girls. It is a surgical emergency because it involves the vital prognosis by the hemo...
Open access
Research Article10.9734/ajmah/2021/v19i930370
Osteopetrosis is an autosomal metabolic bone disease caused by a functional abnormality of the osteoclasts. Two main forms exist, the dominant benign form and the recessive malignant form. We describe in our patient the recessive malignant form retained according to all the clini...
Open access
Research Article10.9734/jammr/2021/v33i1330956
Hyper-IgE syndrome (HIES) is a primary immunodeficiency disorder characterized by eczema, cold abscesses, pneumonia, eosinophilia, and a very high serum IgE concentration. An association with celiac disease is rare. Immunodeficiency and autoimmunity are two manifestations of immu...
Open access
Research Article10.9734/jamps/2022/v24i9575
Ghita Hachim, Abdelhakim Ourrai, Abdelilah Radi, Najat Lamalmi, Rachid Abilkassem, Rihane El Mohtarim, Amal Hassani & Aomar Agadr·Asian Journal of Pediatric Research·2022
Autoimmune Hepatitis (AIH) pathogenesis is still unknown. However, among patients who have a genetic susceptibility, some viral infections appear to be triggers for AIH. We report a case of a child who developed type 2 autoimmune hepatitis as a result of HEPATITIS A Virus (HAV) i...
Open access
Research Article10.9734/ajpr/2022/v9i230264
Background: Streptococcus pneumoniae is a rare cause (1–8%) of maternal-fetal infection but can lead to significant morbidity and mortality in both the newborn and the mother. Objective: This report examined two cases of maternal-fetal infection due to S. pneumoniae. Case Reports...
Open access
Research Article10.9734/ajarr/2025/v19i91160
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
Carbon monoxide poisoning is one of the common causes of poisoning in patients. However, few studies have focused on the pediatric group. We performed this study in order to clarify the clinical characteristics of pediatric patients with Carbon monoxidepoisoning. Methods: We retr...
Open access
Research Article10.9734/ajpr/2020/v4i130140
Factor VII (FVII) deficiency is the most common among rare inherited autosomal recessive bleeding disorders. It is a multifaceted disease because of the lack of a direct correlation between plasma levels of coagulation FVII and bleeding manifestations. Clinical phenotypes range f...
Open access
Research Article10.9734/ajpr/2020/v4i130138