[MIM 612 541]

(Dursun syndrome, severe congenital neutropenia type 4, SCN4)

Very rare: < 1/106. Autosomal recessive transmission of a mutation of the gene G6PC3 on 17q21. This gene encodes for the subunit 3 of the ubiquitous glucose-6-phosphatase. Other mutations in this gene cause congenital neutropenia type 4.

Variable association of:

-        severe chronic neutropenia, sometimes lymphopenia or thymic hypoplasia: frequent bacterial infections since the first months of life

-        thrombopenia crisis

-        very apparent superficial venous network

-        congenital cardiac malformation (77 %)

-        renal or genital malformation (44 %)

-        chronic inflammatory small bowel disease

-        pulmonary hypertension not associated with a cardiac malformation (10 %)

-        endocrine anomalies: growth hormone deficiency  (10 %), hypogonadotrophic hypogonadism

-        particular facies: triangular face with a broad nasal bridge

-        sometimes: scoliosis, pectus carinatum, ligamentar hyperlaxicity, high-arched or cleft palate

Dursun syndrome belongs to the possible phenotype of the ubiquitous glucose-6-phosphatase deficiency.

Treatment: injections of G-CSF in case of severe neutropenia; bone marrow transplantation in case of failure.

Anesthetic implications:

check leukocytes, platelets, red blood cells; cardiac and renal echography; antibioprophylaxis.

References :

-        Banka S, Newman WG, Ozgul RK, Dursun A.
Mutations in the G6PC3 gene causes Dursun syndrome.
Am J Med Genet (2010): part A, 152: 2609-11. -

-        Banka S, Newman WG.
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.
Orphanet J Rare diseases 2013; 8: 84.

Updated: June 2019