Temtamy syndrome is a congenital syndrome. It was first described by Temtamy et al. in 1991. Characterized by mental retardation, ocular coloboma, seizures, variable craniofacial dysmorphism, and brain abnormalities, including abnormalities of the corpus callosum and thalamus. Th...
Open access
Research Article10.9734/ajpr/2020/v4i430154
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
Aim: The aim of this study is to reveal the difficulties in delayed diagnosis and management of the Cerebral Gliomatosis : A rare primary infiltrative neoplasia of the brain. Presentation of the Case: It’s about 9 years old girl with no specific symptoms like headaches with balan...
Open access
Research Article10.9734/ajmah/2024/v22i91086
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
Introduction: Pediatric Multisystem Inflammatory Syndrome linked to temporal with SARS-Cov2 is a new hyper inflammatory disorder that affects children with Covid-19 infection. It usually occurs 2 to 6 weeks following illness or exposure. Materials and Methods: Descriptive retrosp...
Open access
Research Article10.9734/ajpr/2022/v10i4203
We present different cases of cardiovascular abnormalities in 3 patients with WS aged between 8months and 7 years. Williams-Beuren Syndrome is characterized by specific facial dysmorphism that may look like an “elfin face”, congenital heart diseases, cognitive disorder, social pe...
Open access
Research Article10.9734/ajpr/2022/v9i330268
Background: Hydranencephaly is a rare congenital brain malformation with an incidence estimated to be between 1 in 10 000 and 1 in 5 000 pregnancies. It is characterized by the absence of development of the cerebral hemispheres, which are replaced by cerebrospinal fluid. The diag...
Open access
Research Article10.9734/ajpr/2024/v14i8377
Apert's disease is an acrocephalosyndactyly, which is part of the craniofaciostenosis group. It is characterized by craniofacial dysmorphia and syndactyly of the hands and feet. It is a rare autosomal dominant condition, but sporadic cases are common. The pathogenesis is poorly u...
Open access
Research Article10.9734/ajpr/2024/v14i2326
Ehlers-Danlos syndrome (EDS) is a group of hereditary collagen diseases characterized by joint hyperlaxity, skin hyperelasticity, and generalized tissue fragility. We present the case of an 8-year-old child with EDS in its arthrocalasic form type VII, according to the Villefranch...
Open access
Research Article10.9734/ajpr/2022/v9i330270
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
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
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
Hydrops fetalis is defined by the accumulation of fluids in the serous membranes (pleurisy, ascites, pericarditis...), it is a rare condition; its etiologies are divided into immunological and non-immunological. Supraventricular tachycardia remains a known cause, non-immunologica...
Open access
Research Article10.9734/ajpr/2022/v10i2194
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
Aortopulmonary window (APW) is an uncommon congenital cardiac malformation, accounting for 0.1% of all congenital cardiac diseases. It is a defect between the ascending aorta and the trunk of the pulmonary artery. Such abnormality may occur as an isolated lesion or it can be asso...
Open access
Research Article10.9734/ajpr/2021/v7i130206
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
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
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
Aicardi syndrome, exclusively occurring female patient, was originally characterized by triad: agenesis of the corpus callosum, distinctive chorioretinal lacunae, and infantile spasms. Besides the triad, several other findings are present in patients with this condition. We here...
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
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