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
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
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
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
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