Fifteen premature infants with lethal congenital cytomegalovirus infection were studied to determine the clinical, neuroradiological, and neuropathological characteristics of the disease in this population. Nine infants were liveborn but died at a postnatal age of 18 +/- 21 days; 6 infants were stillborn. Clinical findings in liveborn infants included microcephaly (77%), seizures (55%), hypotonia (33%), and multiple contractures (18%). Ophthalmological findings included chorioretinitis, optic atrophy, and corneal opacities. Neuroradiological findings included the postnatal evolution of periventricular calcification in 1 infant, and cerebellar hypoplasia diagnosed by magnetic resonance imaging in 1 infant. Neuropathological findings included periventricular necrosis and calcification (12), associated diffuse calcification frequently involving the convexity of the gyri (6), cerebellar hypoplasia (5), periventricular leukomalacia (2), intraventricular hemorrhage (2), hydrocephalus (2), and porencephalic cyst (1). Intranuclear inclusion bodies within the brain were observed in 4 infants, whereas systemic inclusion bodies were present in all infants. These data indicate several atypical findings in preterm infants rarely reported in term infants, including hypotonia, multiple contractures, periventricular leukomalacia, and optic atrophy.
Acute megakaryoblastic leukemia has emerged as an important subset of early childhood leukemia. It often presents a diagnostic dilemma because of its many morphologic manifestations and propensity to mimic metastatic carcinoma. An abdominal mass was identified by sonographic and computed tomographic scans in a 10-month-old girl, who had anemia and thrombocytopenia. An open biopsy of the 3-cm, peripancreatic mass showed cohesive nests and sheets of tumor cells with focal spindling and desmoplasia. Although the diagnosis of acute megakaryoblastic leukemia was established from a bone marrow aspirate using immunocytochemical techniques and karyotype analysis, a coexistent abdominal epithelial malignant neoplasm could not be excluded entirely by light microscopic examination alone. The megakaryoblastic nature of the abdominal tumor was established by immunocytochemical stains for glycoprotein IIIa on paraffin-embedded tissue.
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