Clinical features of myelokathexis and treatment with hematopoietic cytokines: a case report of two patients and review of the literature.
OBJECTIVE
To define the features and course of myelokathexis, a rare congenital neutropenia resulting from impaired release of granulocytes from bone marrow.


METHODS
The clinical features, granulocyte function, lymphocyte function, and response to granulocyte colony-stimulating factor (G-CSF) of two patients (mother/son) with myelokathexis were studied. This experience and 14 previous reports lead to a composite description of myelokathexis.


RESULTS
Both patients had chronic neutropenia, recurrent pulmonary infections, bone marrow consistent with myelokathexis, hypogammaglobulinemia, and elevated endogenous G-CSF. Patient 15 had normal granulocyte function, a rise in absolute neutrophil count (ANC) with epinephrine and hydrocortisone, and normal numbers of T- and B-lymphocytes; she also had numerous warts during childhood. Both patients experienced a transient increase in ANC with infection, a significant increase in ANC within 5 hours following a single dose of G-CSF, and fewer infections with daily G-CSF.


CONCLUSIONS
Based on 16 cases, myelokathexis occurs more often in females and frequently affects multiple members of a family. The usual number of circulating granulocytes is low although function is normal. Mature marrow granulocytes are mobilized with infection, corticosteroids, epinephrine, G-CSF, and granulocyte-macrophage colony-stimulating factor (GM-CSF). Lymphocyte number is normal but lymphocyte function is abnormal as evidenced by hypogammaglobulinemia and papillomavirus infection.
Hord
J D
JD
Department of Pediatrics, University of Pittsburgh School of Medicine, Pennsylvania, USA.
Whitlock
J A
JA
Gay
J C
JC
Lukens
J N
JN
D000328:Adult; D001853:Bone Marrow / Q000473:pathology*; D004837:Epinephrine / Q000627:therapeutic use; D005260:Female; D016179:Granulocyte Colony-Stimulating Factor / Q000097:blood / Q000627:therapeutic use*; D006098:Granulocytes / Q000473:pathology / Q000502:physiology; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use; D007223:Infant; D007958:Leukocyte Count; D008297:Male; D009503:Neutropenia / Q000235:genetics / Q000473:pathology / Q000628:therapy*
D016179:Granulocyte Colony-Stimulating Factor; D006854:Hydrocortisone; D004837:Epinephrine