A late preterm infant presented with blueberry muffin rash and respiratory distress present at birth (Fig 1).
Blueberry muffin rash (adapted from Holland et al) (1)
The infant underwent two double-volume exchange transfusions for hyperleukocytosis. Peripheral blood examination revealed multiple blasts (Fig 2) that stained positive for myeloperoxidase and α-naphthyl butyrate esterase (NBE).
Flow cytometry showed the blast cells coexpressed CD56, CD64, HLA-DR, and CD5 consistent with myeloid progenitor cell lineages. Her chromosomal analysis revealed a de novo translocation involving chromosomes 11 and 19, t(11:19), and chromosomal microarray revealed a 533-kilobase deletion on the short arm of chromosome 19 (19p13.11).
Her abdominal ultrasound showed hepatomegaly with liver measuring 8 cm, spleen 3.6 cm. Nonspecific abnormal gallbladder wall thickening and increased echogenicity of bilateral kidneys also was noted. A head ultrasound performed on 1st day after birth showed a large right-sided subdural mass lesion, most...