Useful clinical issues in the diagnosis of Di George Syndrome, about a girl
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1
Health, Immunology, Cuba
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2
Health, Genectic, Cuba
DiGeorge syndrome is characterized by thymic aplasia or hypoplasia, hypoparathyroidism and cardiac malformations. Microdeletions of the proximal long arm of chromosome 22 (22q11) are common. The dysmorphic features are "soft" and consist of hypertelorism, low-set ears and micrognathia. At present, the more general term microdeletion 11.2 22q syndrome is used, and includes a variable clinical spectrum. An incidence of 1/4000 is estimated for each newborn. In order to describe the phenotypic variability associated with this syndrome, a girl attended in the Genetics and Immunology service at Pepe Portilla Provincial Pediatric Hospital of Pinar del Rio, Cuba. Clinical and cytogenetic-molecular findings of the patient are present and identified, on the base of phenotype. The patient had visual, auditory disorders, facial abnormalities typical of the disease, velopharyngeal incompetence, and growth retardation, among others. Thymic hypoplasia was demonstrated as moderate to severe in the thymus ultrasound and markedly decreased lymphocyte subsets (CD3, CD4, CD8) by flow cytometry. Performed karyotyping for cytogenetic and FISH study for the 22q11.2 region was normal, so the disease is not ruled out. This is a new mutation as occurs in most cases of this disease. The clinical phenotype of the child is consistent with the most common features of the disease, and shows the variable expressivity and incomplete penetrance in it. Cardiovascular manifestations cannot be completely discarded as angiography has not been performed looking large vessel anomalies, even in the absence of cardiac malformations.
Keywords:
DiGeorge Syndrome,
Thymic aplasia,
Velopharyngeal incompetence,
microdeletion 11.2 22q syndrome,
cardiac malformations
Conference:
IMMUNOCOLOMBIA2015 - 11th Congress of the Latin American Association of Immunology - 10o. Congreso de la Asociación Colombiana de Alergia, Asma e Inmunología, Medellin, Colombia, 13 Oct - 16 Oct, 2015.
Presentation Type:
Poster Presentation
Topic:
Immunodeficiencies
Citation:
Castillo
OO,
Orraca Castillo
M and
Quintero Pérez
W
(2015). Useful clinical issues in the diagnosis of Di George Syndrome, about a girl.
Front. Immunol.
Conference Abstract:
IMMUNOCOLOMBIA2015 - 11th Congress of the Latin American Association of Immunology - 10o. Congreso de la Asociación Colombiana de Alergia, Asma e Inmunología.
doi: 10.3389/conf.fimmu.2015.05.00118
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Received:
14 May 2015;
Published Online:
14 Sep 2015.
*
Correspondence:
Dr. Odalys O Castillo, Health, Immunology, Pinar del Río, Pinar del Río, 20100, Cuba, anadalys@princesa.pri.sld.cu