Sindrome digeorge

CLINICS 2010;65(9):865-869

DOI:10.1590/S1807-59322010000900009

CLINICAL SCIENCE

DiGeorge Syndrome: a not so rare disease
Angela BF Fomin,I Antonio Carlos Pastorino,I Chong Ae Kim,II Alexandre C Pereira,III Magda CarneiroSampaio,I Cristina Miuki Abe JacobI
Allergy and Immunology Unit, Instituto da Crianca, Hospital das Clinicas, Faculdade de Medicina, Universidade de Sao Paulo, SaoPaulo, SP, Brazil. ¸ ˜ ˜ Genetics Unit, Instituto da Crianca, Hospital das Clinicas, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil. III Genetics and ¸ ˜ ˜ Molecular Cardiology Laboratory, Instituto do Coracao, Hospital das Clinicas, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil. ¸˜ ˜ ˜
II I

INTRODUCTION: The DiGeorge Syndrome was first describedin 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life. It is characterized by hypocalcemia due to hypoparathyroidism, heart defects, and thymic hypoplasia or aplasia. Its incidence is 1:3000 live births and, despite its high frequency, little is known about its natural history and progression. rThis isprobably due to diagnostic difficulties and the great variety of names used to describe it, such as velocardiofacial, Shprintzen, DiGeorge, and CATCH 22 Syndromes, as well as conotruncal facial anomaly. All represent the same genetic condition, chromosome 22q11.2 deletion, which might have several clinical expressions. OBJECTIVES: To describe clinical and laboratorial data and phenotypic characteristicsof patients with DiGeorge Syndrome. METHODS: Patients underwent standard clinical and epidemiological protocol and tests to detect heart diseases, facial abnormalities, dimorphisms, neurological or behavioral disorders, recurrent infections and other comorbidities. RESULTS: Of 14 patients (8m – 18y11m), only one did not have 22q11.2 deletion detected. The main findings were: conotruncalmalformation (n = 12), facial abnormalities (n = 11), hypocalcemia (n = 5) and low lymphocyte count (n = 2). CONCLUSION: The authors pointed out the necessity of DGS suspicion in all patient presenting with heart defects, facial abnormalities (associated or not with hypocalcemia), and immunological disorders because although frequency of DGS is high, few patients with a confirmed diagnosis are followed up.KEYWORDS: DiGeorge syndrome; Immunologic deficiency syndromes; Thymus; 22q11.2 deletion.
Fomin ABF, Pastorino AC, Pereira AC, Kim CA, Carneiro-Sampaio M, Abe Jacob CM. DiGeorge Syndrome: a not so rare disease. Clinics. 2010;65(9):865-869. Received for publication on March 18, 2010; First review completed on April 5, 2010; Accepted for publication on June 22, 2010 E-mail: angela.fomin@hotmail.comTel.: 55 11 3096-8585

INTRODUCTION
In spite of the high frequency of DiGeorge Syndrome (DGS), the commonest chromosome deletion syndrome, its diagnosis is often not suspected. Variable clinical phenotypes and different abnormalities may be caused by 22q11.2 deletion: thymus dysfunction, cardiac diseases, immunodeficiency, and other clinical problems.1 In our country, few cases have beenreported, but the clinical phenotypes associated with DiGeorge Syndrome should be well known so that patients receive an early diagnosis and correct treatment.2,3 Most patients with DGS have a partial form of the disease and thymic hypoplasia. This defect results in cellular immunodeficiency, although humoral defects have also

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been described. Autoimmune diseases have been associated with DGS, probably in consequence of T cell regulatory defects and impaired...