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Case Reports
. 2022 Oct;120(5):e213-e217.
doi: 10.5546/aap.2022.e213. Epub 2022 Aug 30.

[Congenital neutropenia type IV: case report]

[Article in Spanish]
María V Peruffo  1 , Gabriela Nainsztein  2 , Verónica Salvaneschi Quiña  2 , Celeste Samaruga  2 , María F Cuello  3 , Silvina Romano  3 , Horacio Caferri  4
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Free article
Case Reports

[Congenital neutropenia type IV: case report]

[Article in Spanish]
María V Peruffo et al. Arch Argent Pediatr. 2022 Oct.
Free article

Abstract
in English, Spanish

Severe congenital neutropenia (SCN) is a heterogeneous disease whose more common feature is an absolute neutrophil count less than 0.5 x 109/l. It presents great genetic heterogeneity. Autosomal dominant inherited mutations of the elastase 2 gene (ELA2) represent the most common etiology. The first choice treatment is the administration of granulocyte colony stimulating factor. Patients with SCN develop severe infections early in life. We present a patient who associated SCN to a peculiar phenotype, characterized by triangular facies, retromicrognathia, prominent venous pattern in the lower limbs, atrial septal defect and poor weight progress, in whom a deficiency of the enzyme glucose 6 phosphate dehydrogenase, Neutropenia congénita de tipo IV: reporte de un caso Congenital neutropenia type IV: case report a catalytic subunit 3 (G6PC3), was diagnosed. Despite the infrequency of this mutation as the origin of SCN (2%), its knowledge becomes important because the coexistence of the characteristic phenotype and SCN guides the request for the genetic study that allows reaching the diagnosis.

La neutropenia congénita grave (NCG) es una entidad heterogénea cuya característica común es un recuento absoluto de neutrófilos inferior a 0,5 x 109/l. Presenta gran heterogeneidad genética, las mutaciones más frecuentes son las del gen de la elastasa 2 (ELA 2). El tratamiento de primera elección es la administración de factor estimulador de colonias de granulocitos. Los pacientes con NCG presentan infecciones graves en etapas tempranas de la vida. Se presenta una paciente con NCG asociada a fenotipo peculiar con facies triangular, retromicrognatia, patrón venoso prominente en miembros inferiores, comunicación interauricular y mal progreso ponderal, en quien se diagnosticó déficit de la enzima glucosa 6 fosfato deshidrogenasa, subunidad catalítica 3 (G6PC3). A pesar de lo infrecuente de esta mutación como causa de NCG (2 %), su conocimiento cobra importancia porque la coexistencia del fenotipo característico con una NCG orienta en la solicitud del estudio genético que permite arribar al diagnóstico.

Keywords: congenital; genetics; glucosephosphate dehydrogenase deficiency; neutropenia.

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Conflict of interest statement

None.

References

    1. Klein C. Congenital Neutropenia. In Sullivan KE, Stiehm R (Eds). Stiehm’s Immune Defic. Academic Press; 2014:605–
    1. [Acceso: 17 de diciembre de 2021]. Disponible en: https://www.sciencedirect.com/science/article/pii/B9780124055469000297
    1. Klein C, Grudzien M, Appaswamy G, Germeshausen M, et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet. 2007; 39(1):86-92.
    1. Milá M, Rufach A, Dapena JL, Arostegui JI, et al. Neutropenia congénita grave: Análisis de las características clínicas, estudios diagnósticos, tratamiento y seguimiento a largo plazo. An Pediatr (Barc). 2011; 75(6):396-400.
    1. Boztug K, Appaswamy G, Ashikov A, Schäffer A, et al. A novel syndrome with congenital neutropenia caused by mutations in G6PC3. N Engl J Med. 2009; 360(1):32-43.

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