Ron GCS

Language: Spanish
References: 21
Page: 58-64
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ABSTRACT

Background: Congenital neutropenia is a primary immunodeficiency whose mode of inheritance is heterogeneous, affected genes can be located in the autosomes or in the gonosomes, therefore its prevalence throughout generations covers the entire spectrum of Mendelian inheritances as well as of chromosome X linked inheritances. Congenital neutropenia is characterized by chronic neutropenia due to a congenital constitutional defect. In the past decade the molecular bases of several entities that facilitate a classification have been discovered.
Objective: To report the case of a woman with Congenital neutropenia, with maturation halt in the myelocytes to metamyelocytes phase: partial albinism, nystagmus, convergent strabismus, with a genetic history linked to the X chromosome.
Material and Methods: A 4 years old girl was identified with Congenital neutropenia, convergent strabismus, horizontal nystagmus and partial albinism; she was followed up for 17 years until she died of respiratory failure secondary to pulmonary fibrosis. During this period of time we expected a similar syndrome description to arise, however no other syndrome appeared. Nevertheless, three family members appeared with the same characteristics of the syndrome and we did the investigation through a family tree, we found it was linked to the X chromosome and lethal in males affected.
Results: The patient had repeated upper and lower respiratory tract infections at a young age as well as otitis, gingivitis and skin infections. It was characterized by severe neutropenia with normalization of neutrophils with the application of G-CSF. The patient died at 22, she developed pulmonary fibrosis one year earlier. In her genetic history three more women were identified with the same syndrome: two first cousins, one of them died at age 10 from an intra-abdominal infection, the other one survives but suffers from repeated infections and moderate to severe neutropenia; the other one is 2 years old, she is first cousin of the patient that still survives, with the same characteristics of the syndrome. Comparisons were carried out with the different syndromes known that could be considered as one more of the ones already described; however, not all phenotype, genetic or histological characteristics were linked. Therefore, it is important to investigate a genetic molecular defect to include it in the current classification of congenital neutropenias.
Conclusions: This is a new syndrome not described yet in medical literature; it is characterized by congenital neutropenia with a halting of granulocyte maturity in the myelocyte to metamyelocyte phase, partial albinism, convergent strabismus, nystagmus and probably linked to the X chromosome.

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