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
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
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
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
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
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
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
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