Background: Thrombocytopenia might be the only clinical clue of diseases in neonates. Classification of thrombocytopenia according to severity, onset offset, nadir and duration might help in identification of the etiology.
Aim: This study aims to estimate the prevalence and, identify the determinants and patterns of thrombocytopenia among neonates.
Enterovirus is not a common cause of myositis and rhabdomyolysis in children. We report a case of a two-year-old boy with acute lymphoblastic leukemia with disseminated enterovirus infection complicated by hepatitis, myositis, and rhabdomyolysis. The case was managed successfully with supportive care and high-dose intravenous immunoglobulins.
View Article and Find Full Text PDFBackground: Severe high-molecular-weight kininogen (HK) deficiency is a poorly studied autosomal recessive contact system defect caused by pathogenic, biallelic KNG1 variants.
Aim: We performed the first comprehensive analysis of diagnostic, clinical, genetic, and epidemiological aspects of HK deficiency.
Methods: We collected clinical information and blood samples from a newly detected HK-deficient individual and from published cases identified by a systematic literature review.
Essentials Prekallikrein (PK) deficiency is a recessive trait with isolated aPTT prolongation. KLKB1 c.451dupT is common in Nigerians (7/600 alleles) and absent in a European group (0/600).
View Article and Find Full Text PDFParvovirus is a known culprit of transient red cell aplasia (TRCA) in children with sickle cell disease (SCD). Few reports have previously described the association between the virus and acute splenic sequestration crisis (ASSC) in the same patient. Here, we are shedding light on such a potentially serious combination by reporting two cases of siblings with SCD complicated with concurrent ASSC and TRCA and presenting a review of the relevant literature.
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