Cerebral sinuses thrombosis prior to the diagnosis of acute lymphoblastic leukemia in a child: A case report.

Acute lymphoblastic leukemia is the most common malignancy in children. In children, venous thromboembolism is relatively common. In most cases, venous thromboembolism manifests in patients who are diagnosed with acute lymphoblastic leukemia. Several risk factors associated with acute lymphoblastic leukemia predispose patients to the development of venous thromboembolism. Unlike most reported cases of venous thromboembolism, herein we report a child who developed cerebral venous sinus thrombosis prior to the diagnosis of acute lymphoblastic leukemia. The patient recovered from an attack of acute gastroenteritis with sepsis, pancytopenia, and disseminated intravascular coagulation 2 weeks before the development of thrombosis. Her laboratory workup for coagulopathy and disseminated intravascular coagulation was normal at the time of diagnosis of cerebral sinus thrombosis. The genetic workup for thrombophilia risk identified several genetic thrombophilia mutations: the homozygous factor XIII V34L and MTHFR A1298C mutations and heterozygous factor V Leiden mutation. Three weeks later, the patient was diagnosed with acute lymphoblastic leukemia. However, it remains questionable whether the thrombotic event was caused by the previous infection of gastroenteritis, sepsis, and disseminated intravascular coagulation picture (which was augmented by her genetic thrombophilia risk), or was it caused by acute lymphoblastic leukemia (that was not detected at early stages with its associated hypercoagulable state), or was it caused by a type of paraneoplastic syndrome. A multifactorial etiology is proposed.

Association between ATP binding cassette gene member 1 polymorphism and glucocorticoid response in children with immune thrombocytopenia.

ATP binding Cassette gene member 1 (ABCB1) polymorphism has been incriminated in susceptibility to many malignant, infectious and autoimmune diseases. Recently, it was reported that ABCB1 polymorphisms might have a link to disease progression as well as response to therapy. We aimed to study the association between ABCB1 gene polymorphism and glucocorticoid response in children with newly diagnosed immune thrombocytopenia (ITP). A case control study was conducted on 90 newly diagnosed children with ITP and 90 healthy controls over a period of 1 year. ABCB1 (C3435T) polymorphism was determined by restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) in patients and controls. There was no significant difference between patients and controls as regards to frequency of different ABCB1 genotypes (CC, CT, and TT genotypes were 44.4%, 36.7%, and 18.9% respectively in patients and 48.9%, 38.9%, and 12.2% respectively in controls, P value = 0.18). 80% of patients who received steroids alone or steroids in combination with intravenous immunoglobulin showed complete recovery. There was highly significant relationship between ABCB1 genotypes and response to steroids where 55 % of responders had CC (wild) genotype while 40 % of nonresponders had TT (mutant) genotype. We concluded that ABCB1 gene polymorphism may contribute to the response to steroids in Egyptian children with ITP where patients with homozygous CC genotype responded better to steroids than patients with homozygous TT genotype. These results may help us choose the appropriate initial treatment in these children.