AUTHOR=Lyu Baiyu , Lyu Wei , Zhang Xiaoying 

TITLE=Kostmann Syndrome With Neurological Abnormalities: A Case Report and Literature Review

JOURNAL=Frontiers in Pediatrics

VOLUME=8

YEAR=2020

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2020.586859

DOI=10.3389/fped.2020.586859

ISSN=2296-2360

ABSTRACT=<p><bold>Background:</bold> Severe congenital neutropenia (SCN), also known as Kostmann syndrome, is a rare heterogeneous group of diseases characterized by arrested neutrophil maturation in the bone marrow.</p><p><bold>Case Presentation:</bold> We report a case of Kostmann syndrome and review previously reported SCN cases with neurological abnormalities. A 10-year-old boy had a history of recurrent, once a month, infection starting at 6 months of age. He had neutropenia for more than 9 years, as well as intellectual disability. He was homozygous for the exon 3 c.430dupG mutation of the HAX1 gene NM-006118. After treatment of antibiotics and G-CSF, his symtoms were relieved and was 3 months free of infection. The search revealed 29 articles related to Kostmann syndrome caused by HAX1 gene mutation; they were screened, and the main clinical features of 13 cases of Kostmann syndrome with neurological abnormalities were summarized and analyzed.</p><p><bold>Conclusions:</bold> Kostmann syndrome has three main characteristics: severe neutropenia (&lt;0.2 × 10<sup>9</sup>/L), maturation arrest of granulopoiesis at the promyelocyte stage, and death due to infections. HAX1 gene mutations affecting both isoforms A and B are associated with additional neurological symptoms. G-CSF can improve and maintain neutrophil counts, and improve prognosis and quality of life. At present, hematopoietic stem cell transplantation is the only cure.</p>