Posters

Herpetic ocular manifestations in a patient with GATA-2 deficiency

Poster Details

First Author: A.Ortueta SPAIN

Co Author(s):    J. Torres-Pena   A. Palacios Hipola   E. Mencía Gutiérrez   A. de-Pablo-Cabrera   L. Esquinas-Beas        

Abstract Details

Purpose:

To describe the case of a 26 year-old male with upper left eyelid swelling and two dendritic ulcers in cornea. He also presented a medullar aplasia for four years and idiopathic chronical lymphedema for 13 years. The patient was finally diagnosticated of GATA-2 deficiency. GATA-2 gen is particularly critical for the genesis and function of hematopoietic stem and progenitor cells and thus all subsequent blood cell lineages. It´s deficiency can cause myelodysplasic syndromes, congenital lymphedema or sever viral infections.

Setting:

12 de Octubre Hospital, Complutense University, Madrid Spain.

Methods:

Description of a case report.

Results:

The combination of medullar aplasia, chronical lymphedema and severe viral infection in addition to a bone marrow biopsy that was informed for myelodysplasic syndrome with multilineage dysplasia, and a severe decrease in the NK cells activity, monocytopenia, and a B leucocytes deficit, was what aroused the suspicion that the patient could carry a GATA-2 mutation. It was found a deletion in 20q12 which confirmed the suspicion. The patient had a good response to topic acyclovir of the ocular infection but needed foscarnet to eradicate the systemic lesions. It was suggested a bone marrow transplant, as a possible definitive treatment.

Conclusions:

When finding dendritic corneal ulcers associated to a sever systemical herpetic infection, it is important to consider immunosuppressions; they can be secondary, but primary immunosuppressions should be also considered. This is what happened to our patient who has a GATA-2 deficiency. The clinical hallmarks of GATA-2 deficiency include opportunist infections, myelodysplasic syndromes and congenital lymphedema. The ophthalmological managment of these patients is similar to those with classic lesions. The corneal epithelium lesion is analogous to a regular hepetic keratitis and as the stromal keratitis is believed to be an immunopathological response to virus,it is rarely seen in these patients.

Financial Disclosure:

NONE