Fahr's disease is a very rare condition characterized by abnormal, symmetrical, and bilateral deposits of calcifications in the basal ganglia without an identifiable cause. Fahr's disease must be differentiated from Fahr's syndrome, which is also a rare anatomo-clinical entity, c...
Open access
Research Article10.9734/ajpr/2024/v14i7363
Bartter syndrome is an inherited renal tubular disorder caused by a defective salt reabsorption in the thick ascending limb of loop of Henle. It characterized by urinary loss of sodium, potassium, and chloride; hypokalemic metabolic alkalosis; normal blood pressure, high plasma l...
Open access
Research Article10.9734/ajpr/2020/v4i430153
Neonatal crises have several etiologies. Hypovitaminosis D and hypocalcemia are the most common cause of childhood seizures, but their frequency has been reduced due to vitamin D supplementation and infant formula. Most hypocalcemic crises have an underlying endocrinological orig...
Open access
Research Article10.9734/ajpr/2020/v3i430133
Limb-Girdle muscular dystrophy (LGMD) is a group of inherited disorders that lead to muscle weakness and skeletal muscle wasting involving the muscles around the hips and shoulders. This can cause a gait disturbance, difficulty running or even a complete loss of the ability to wa...
Open access
Research Article10.9734/ajpr/2020/v3i330127
Aims: To report a pediatric case of Bardet-Biedl syndrome (BBS) and discuss its clinical, diagnostic, and therapeutic aspects in light of current literature. Study Design: Case report and literature review. Place and Duration of Study: Department of Pediatrics, Hôpital Militaire...
Open access
Research Article10.9734/ajarr/2025/v19i91156
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 Article10.9734/ajarr/2024/v18i12815
Ohdo syndrome is extremely rare and comprises a heterogeneous group of disorders characterized by intellectual disability (ID) and typical facial features, including blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. So far, fewer than 30...
Open access
Research Article10.9734/ajpr/2024/v14i7372
We present a case involving an immunocompetent infant diagnosed with miliary tuberculosis complicated by macrophage activation syndrome. Macrophage activation syndrome (MAS), also known as bone marrow hemophagocytosis, presents as a non-specific clinical condition characterized b...
Open access
Research Article10.9734/ajpr/2024/v14i6349
Sandhoff disease is a rare inherited disorder within the sphingolipidosis family, characterized by the accumulation of lipids in the nervous system due to a deficiency in hexosaminidase types A and B enzymes. This condition leads to progressive neurological disorders and eventual...
Open access
Research Article10.9734/ajpr/2024/v14i5348
Allgrove syndrome, or Triple A syndrome, is a very rare autosomal recessive disorder with three key clinical features: achalasia, alacrima, and adrenal insufficiency. Around a third of patients present with additional features, such as neurological and autonomic manifestations (m...
Open access
Research Article10.9734/ajpr/2024/v14i5347
Background: Sternal tuberculosis is an uncommon form of extrapulmonary tuberculosis and it can be a diagnostic challenge for pediatricians. Case Presentation: We report the case of a young 14-year-old boy, who had a gradually increasing swelling of the sternum over the past 2 mon...
Open access
Research Article10.9734/ajpr/2023/v13i3273
Background: Orbital cellulitis is a diagnostic and therapeutic emergency, jeopardizing the vital and functional prognosis. This study aimed to analyze the epidemiological, therapeutic and evolutional aspects of orbital cellulitis cases treated at the pediatric service at Mohamed...
Open access
Research Article10.9734/ajpr/2021/v7i330216
Alagille syndrome is a multi-systemc genetic disorder with variable phenotypic penetrance that was first described in 1969 by Daniel Alagille.It is characterized by anomalies of the intrahepatic bile ducts, heart, eye and skeleton, which are associated with facial features . The...
Open access
Research Article10.9734/ajpr/2020/v4i330148
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 Article10.9734/ajpr/2025/v15i6458
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 Article10.9734/ajarr/2024/v18i12838
Introduction : Langerhans cell histiocytosis (LCH) is a rare clonal disorder of dendritic cells with heterogeneous clinical manifestations, ranging from isolated bone lesions to severe multisystemic disease. Its association with Evans syndrome, defined by autoimmune haemolytic a...
Open access
Research Article10.9734/ajpr/2025/v15i9474
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 Article10.9734/ajarr/2025/v19i111212