Severe congenital neutropenia, also known as Kostmann disease, is an autosomal recessive disorder characterized by abnormally low levels of neutrophils (neutropenia), seizures, developmental delay, and onset of severe bacterial infections. The prevalence of the disease is approximately 1 in 200,000 individuals. Neutropenia leads to recurrent infections beginning in infancy, including pneumonia, ear infections, gingivitis, stomatitis, and periodontitis. In addition, 20% of the affected individuals may develop leukemia or a myelodysplastic syndrome during adolescence. The diagnosis of SCN is based on bone marrow aspirate, blood counts, and can be confirmed by ELA2 genetic testing. SCN can be treated with granulocyte-colony stimulating factors (G-CSF) that stimulate the bone marrow to produce neutrophils.
Faiyaz-Ul-Haque et al. (2010) reported a 12-year-old boy who presented since birth with recurrent skin abscesses and pustules, cervical lymphadenopathy, and oral ulcers. At the age of 2 years he was diagnosed with severe congenital neutropenia. He developed neurological symptoms including: ataxia, loss of posture, and brief daily episodes of atomic seizers. He had significant dysarthria and linguistic immaturity, hyperactivity, motor clumsiness, attention problem, and weak fine motor control. Sequencing of the HAX1 gene showed a novel homozygous frame shift mutation c.463_464insC in exon 3, resulted in a truncated protein (p.Gln155ProfdX14).