A 36-week gestation singleton male infant was born with hypoglycemia, thrombocytopenia, transaminitis, microcephaly, and a generalized eruption of bluish-red nonblanching macules and papules. Head computed tomography showed intracranial calcifications and enlarged ventricles. Skin biopsy was consistent with extramedullary hematopoiesis, with no evidence of neoplastic infiltrate. Family history ...

To The Editor: We report a case of congenital acute myeloid leukemia (AML) with t(8;16) that went into spontaneous remission. A full-term female presented with blueberry muffin spots at birth. A skin biopsy revealed a diffuse dermal infiltration by immature hematopoietic cells and was diagnosed as myelosarcoma (Fig. 1A and B). At Day 10, the patient’s bone marrow showed 32.8% leukemic blasts (F...

Our patient is a 26-week-old preterm female infant delivered by caesarean section secondary to severe maternal preeclampsia who had been receiving subcutaneous recombinant erythropoietin (r-EPO) for anemia of prematurity. At 8 weeks of age after 8 doses of r-EPO, the infant developed numerous non-blanching erythematous macules and patches located on the back, posterior shoulder, and posterior a...

Hemorrhagic pustules with a "blueberry muffin" appearance accompanied by respiratory failure in a neonate present a challenging differential diagnosis that includes infections and neoplasms. We present a case of multiorgan, multisite Langerhans cell histiocytosis (LCH), positive for the oncogenic BRAF V600E mutation, in a preterm neonate. Infants with LCH pose a diagnostic challenge due to thei...

Neonatal cholestasis is characterized by an elevation of conjugated bilirubin. It occurs in approximately 1 in 2500 term infants. Gaucher Disease (GD) is an exceptionally rare cause of neonatal cholestasis. We report a male term newborn with a blueberry muffin rash, hepatomegaly and massive splenomegaly at birth. His total serum bilirubin (TSB)/direct was 13.5/11.9 mg/dL, and platelet count 20,...