ABSTRACT
A 2-year-old girl with Down syndrome (DS) developed acute megakaryoblastic leukemia (AMKL) following a transient myeloproliferative disorder (TMD). The blast cells showed an altered karyotype of 47,XX,r(7),+21c. Serial cytogenetic studies during the course of the illness showed rapid stepwise clonal chromosome changes, including a ring chromosome 7, associated with treatment refractoriness. We reviewed 10 published cases of Down syndrome-related AMKL (DS-AMKL) showing chromosome 7 abnormalities and found that these changes do not carry the same prognostic weight as for non-DS children. For DS-AMKL, therefore, other prognostic factors besides clonal cytogenetic changes need to be identified for planning optimal therapy.
Subject(s)
Chromosome Aberrations , Chromosome Disorders , Chromosomes, Human, Pair 7 , Down Syndrome/genetics , Leukemia, Megakaryoblastic, Acute/genetics , Child, Preschool , Disease Progression , Down Syndrome/complications , Female , Humans , Leukemia, Megakaryoblastic, Acute/complications , Ring Chromosomes , Spectral Karyotyping , TrisomyABSTRACT
A 14-year-old female exhibited an acute vulvar ulcer during the course of hemophagocytic syndrome (HPS). The patient presented persistent high fever and a deep painful vulvar ulcer lasting for more than 2 weeks. Neither infection with sexually transmitted agents nor autoimmune disorder were found to be positive. The presence of hemophagocytosis in the bone marrow and elevation of urinary beta-2-microglobulin (beta-2M) prompted the diagnosis of HPS. Acute vulvar ulcer is rare, but it should be recognized as a mucous manifestation of HPS. During the clinical course, urinary beta-2M was the most sensitive marker for the evaluation of the disease activity of HPS.
Subject(s)
Histiocytosis, Non-Langerhans-Cell/complications , Histiocytosis, Non-Langerhans-Cell/diagnosis , Ulcer/etiology , Vulvar Diseases/etiology , beta 2-Microglobulin/urine , Acute Disease , Adolescent , Biomarkers/urine , Bone Marrow Examination , Female , Histiocytosis, Non-Langerhans-Cell/urine , HumansABSTRACT
We report a male infant with congenital tuberculosis who developed cerebral hemorrhage associated with vitamin K deficiency during treatment with isoniazid and rifampin. Despite an absence of risk factors for vitamin K deficiency, the severe hemorrhagic disorder occurred at 4 months of age. We speculate that vitamin K deficiency in the present case may have resulted from a synergic effect of antituberculosis agents and immaturity of vitamin K metabolism and/or its absorption.
Subject(s)
Cerebral Hemorrhage/chemically induced , Isoniazid/adverse effects , Rifampin/adverse effects , Tuberculosis/congenital , Tuberculosis/drug therapy , Vitamin K Deficiency/chemically induced , Cerebral Hemorrhage/complications , Cerebral Hemorrhage/diet therapy , Humans , Infant , Infectious Disease Transmission, Vertical , Isoniazid/therapeutic use , Male , Rifampin/therapeutic use , Streptomycin/therapeutic use , Tuberculosis/complications , Vitamin K/therapeutic use , Vitamin K Deficiency/complications , Vitamin K Deficiency/diet therapyABSTRACT
A case of cerebral infarction in a 4-year-old male is described. The child presented with an acute onset of right hemiplegia, central facial palsy, and dysarthria. He had no predisposing factors for cerebral infarction. A computed tomography scan showed a diffuse low-density area in the territory of the left miiddle cerebral artery. Magnetic resonance angiography disclosed multiple irregular narrowings in the left anterior and middle cerebral arteries. He recovered spontaneously from the stroke with minimal long-term complications, and repeated angiography disclosed a complete regression of the vascular changes 2 months after the stroke. There was no recurrence of stroke after 2-year follow-up. This case demonstrates the importance of longitudinal angiographic follow-up in childhood cerebral infarction of idiopathic origin.
