In-Utero Presentation of Aggressive Systemic Mastocytosis in a Neonate

Abstract

Mastocytosis is a clinically heterogenous disease characterized by mast cell hyperplasia in skin, bone marrow, and/or visceral organs. Cutaneous mastocytosis (CM) is more frequently observed in children, while indolent systemic mastocytosis (ISM) is more commonly observed in adults. Aggressive systemic presentation, particularly, of the neonate, is exceptionally rare. We present a rare case of congenital aggressive systemic mastocytosis (ASM). The patient was a 37-week old male, born by Cesarean section due to hepatosplenomegaly and ascites diagnosed in-utero, who exhibited extensive cutaneous and systemic manifestations of mastocytosis at birth. Mutation analysis of c-kit identified D816V mutation in exon 17. Although initial bilateral bone marrow aspirates demonstrated no mast cell infiltrates or hematologic neoplasm, subsequent bone marrow biopsies postmortem exhibited multifocal mast cell aggregates. Clinical course was complicated by bacteremia and cardiorespiratory failure, leading to death at 10 weeks.

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