Myelokathexis in a mother and infant: a second case suggesting dominant inheritance

Abstract

Myelokathexis is a rare from of neutropenia that is probably congenital, characterized by severe noncyclic neutropenia, recurrent infections, granulocytic hyperplasia of the bone marrow, and degenerative changes in mature neutrophils. The cause remains uncertain. A case of myelokathexis was reported in a father and two daughters, and based on this, myelokathexis was given an autosomal-dominant inheritance in Mendelian Inheritance in Man (11th edition, 1994). We present the case of a 12-month-old male with chronic neutropenia and the morphologic features of myelokathexis whose mother carries the same diagnosis, providing additional evidence in favor of dominant transmission.