Introduction: Coffin-Siris syndrome (CSS) is a rare disorder of the SWI/SNF-related intellectual disability group. It typically presents with global developmental delay, variable intellectual disability, facial dysmorphism, and hypoplasia or absence of the distal phalanges, espec...
Open access
Research Article10.9734/ajpr/2025/v15i10479
Homocystinuria is a rare constitutional aminoacidopathy characterized by elevated plasma and urinary homocysteine levels, most often due to cystathionine beta-synthase (CBS) deficiency, and represents the second most frequent metabolic encephalopathy after phenylketonuria. We rep...
Open access
Research Article10.9734/ajarr/2025/v19i101185
Background: Henoch–Schönlein purpura (HSP), also known as IgA vasculitis, is the most common vasculitis in children, primarily affecting the skin, joints, gastrointestinal tract, and kidneys. Hypertension (HTN) usually occurs in cases with renal involvement, but it may rarely pre...
Open access
Research Article10.9734/ajarr/2025/v19i101174
Vitamin B12 deficiency is a well-recognised cause of neurodevelopmental disorders and psychomotor regression in pediatric patients. In developed countries, infant B12 deficiency most commonly occurs in exclusively breastfed infants whose mothers have subclinical or overt B12 defi...
Open access
Research Article10.9734/ajpr/2025/v15i9473