Antiphospholipid syndrome (APS) is a multisystem autoimmune disorder that can affect children and adults alike, with a similar spectrum of thrombotic events, predominately deep vein thrombosis and stroke. It is characterized by recurrent arterial or venous thrombosis and recurrent fetal loss with the presence of antiphospholipid antibodies (aPL) like antibodies to beta-2-glycoprotein I (B-2-GPI) and anticardiolipin (aCL). The disease could be classified into primary APS in the absence of an underlying disease or secondary APS occurring secondary to autoimmune diseases, infections, malignancies, and sometimes medication use.
View Article and Find Full Text PDFTo assess the prevalence of obstructive sleep apnea in Saudi children with sickle cell disease at a tertiary hospital in Kingdom of Saudi Arabia (KSA) using nocturnal polysomnography. Methods: A prospective cross-section study was conducted between 2012 and 2016 in 65 children aged between 2-14 years at Prince Sultan Military Medical City, Riyadh, KSA with sickle cell disease. Patients answered a pediatric sleep questionnaire with the help of an accompanying caregiver and underwent polysomnography in the same night.
View Article and Find Full Text PDFHemophilia A and B are X-linked diseases that predominantly affect male patients. Patients can develop coagulation factor inhibitors, which exponentially increases the treatment cost. However, the prevalence of factor VIII and IX inhibitors in Saudi Arabia is unclear.
View Article and Find Full Text PDFWe report here a quite rare case of severe homozygous protein C deficiency. The index case is a 9-month-old Saudi boy who was born after an uneventful pregnancy at 39 weeks. The diagnosis of epidermoloysis bullosa and the appearance of scrotal haematoma raised the diagnosis of thrombosis due to protein C deficiency.
View Article and Find Full Text PDFThe association of dysmorphic features and failure of one or more bone marrow cell lines is well known. Examples are Fanconi's anemia and Diamond-Blackfan anemia. This report describes 3 similarly affected children from consanguineous parents, all showing low birth weight, severe growth retardation, distinct facial features, microcephaly, mental retardation and onset of severe pancytopenia in infancy without increased chromosomal breakage.
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