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
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
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: 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
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...
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Research Article10.9734/ajpr/2022/v10i4203
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
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
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