Even though congenital heart disease is a common finding in down syndrome (DS) patients, some of them have anatomically normal hearts. However, the term “normal” might not be suitable, as these patients usually suffer from functional cardiac dysfunction. Several research highlighted that despite the absence of anatomical heart defects, subtle cardiac function derangements are present in DS patients. We aim to assess cardiac functions by Two-dimensional echocardiography and tissue Doppler imaging (TDI) in pediatric DS patients who have anatomically normal hearts. One hundred seventy-two patients with karyotyping confirmed DS with anatomically normal hearts and 165 healthy normal control children were enrolled in the current study. Their cardiac functions were assessed using both 2-dimensional echocardiography and TDI. Both patients and controls had structurally and anatomically normal hearts. In DS patients, the right side of the heart showed a significant reduction in both systolic and diastolic functions. Systolic dysfunction was evident by significantly decreased levels of Tricuspid annular plane systolic excursion and systolic wave by TDI. Diastolic dysfunction of the right ventricle was evident by prolonged deceleration time by conventional echocardiography and a significant decrease in annular tissue doppler velocity during early diastole/late diastole ratio by TDI. The E/De ratio was significantly increased. Even with anatomically normal hearts, DS patients should undergo cardiac function assessment by echocardiography & TDI. TDI is superior to conventional echocardiography in detecting subtle cardiac dysfunction especially left ventricular diastolic dysfunction in DS patients. TDI showed a significant decrease in the early/atrial ratio of mitral valve annulus and prolongation of left ventricle isometric relaxation time in DS children. Also, the left ventricle E/De ratio was prolonged denoting elevated filling pressures and diastolic dysfunction. This indicates that the TDI has higher sensitivity to detect diastolic dysfunction than conventional Echocardiography. Biventricular TDI-derived myocardial performance index was found to be significantly increased in DS children.
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.
We report the case of a 7-year-old girl who was originally diagnosed at the age of 6 months with transfusion-dependent red cell aplasia based on a combination of severe anemia, reticulocytopenia and bone marrow findings. Since early infancy due to severe microcytic/hypochromic anemia she received multiple packed RBCs transfusions. She subsequently developed hepatomegaly, hypothyroidism, diabetes, liver cirrhosis and latterly, a severe cardiomyopathy due to significant iron overload refractory to regular chelating agents. Genetic study was offered, confirmed the presence of SLC25A38 gene mutation and her diagnosis was revised to pyridoxine refractory sideroblastic anemia (PRSA). It is a non-syndromic, autosomal recessive disorder, characterized by severe microcytic anemia since infancy and increased serum ferritin, which is not responsive to pyridoxine. Since the clinical course of this disorder is very similar to that of thalassemia major and other red cell aplasia. Prompt recognition and initiation of appropriate treatment are important to reduce the development of secondary disease complications due to iron overload. Given the potential for misdiagnosis and delay in the recognition of sideroblastic anemia, a careful bone marrow examination and genetic study should be included while investigating children with unexplained anemia.
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