{"id":2139,"date":"2009-12-31T10:50:27","date_gmt":"2009-12-31T15:50:27","guid":{"rendered":"http:\/\/insidesurgery.com\/?p=2139"},"modified":"2013-08-17T16:37:48","modified_gmt":"2013-08-17T20:37:48","slug":"digeorges-syndrome-catch22-disease","status":"publish","type":"post","link":"https:\/\/insidesurgery.com\/2009\/12\/digeorges-syndrome-catch22-disease\/","title":{"rendered":"DiGeorge’s Syndrome (Catch-22 Disease)"},"content":{"rendered":"

Pathophysiology<\/strong><\/p>\n

1)<\/strong> cellular immune deficiency in setting of absent or hypoplastic thymus and parathyroids and truncal heart defects (tetralogy of Fallot, truncus arteriosus) 2)<\/strong> results from defects of the third and fourth branchial arches 3)<\/strong> marked T cell defects<\/p>\n

Signs and Symptoms<\/strong><\/p>\n

1)<\/strong> moderate retardation 2)<\/strong> severe cardiac defects 3)<\/strong> hypertelorism 4)<\/strong> low-set ears 5)<\/strong> cleft palate 6)<\/strong> bifid uvula 7)<\/strong> micrognathia 8)<\/strong> mucocutaneous candidiasis<\/p>\n

Characteristic Test Findings<\/strong><\/p>\n

Laboratory<\/em> – hypocalcemia<\/p>\n

Associated Conditions<\/strong><\/p>\n

1)<\/strong> severe infections 2)<\/strong> seizures<\/p>\n

Biochemistry<\/strong><\/p>\n

1)<\/strong> reduced levels of T cell and T cell functioning 2)<\/strong> although the number of B cells is normal, there is reduced functioning of some immunoglobulins<\/p>\n

Inheritance\/Epidemiology<\/strong><\/p>\n

1)<\/strong> occurs in 1\/4000 births 2)<\/strong> defect is microdeletion at 22q11 3)<\/strong> most cases are sporadic 4)<\/strong> death usually occurs in childhood from severe infection 5)<\/strong> syndrome shows variable penetrance; if a small thymus is present in the neck or at the base of the tongue, then clinical presentation is less severe<\/p>\n

Treament<\/strong><\/p>\n

supportive for infections<\/p>\n

Tips for USMLE<\/strong> <\/p>\n

catch-22<\/strong> – acronym for c<\/strong>ardiac defect, a<\/strong>bnormal facies, T<\/strong> cell deficiency, c<\/strong>left palate, h<\/strong>ypocalcemia, chromosome 22<\/strong> defect<\/p>\n","protected":false},"excerpt":{"rendered":"

Pathophysiology 1) cellular immune deficiency in setting of absent or hypoplastic thymus and parathyroids and truncal heart defects (tetralogy of Fallot, truncus arteriosus) 2) results from defects of the third and fourth branchial arches 3) marked T cell defects Signs and Symptoms 1) moderate retardation 2) severe cardiac defects 3) hypertelorism 4) low-set ears 5) […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"_genesis_hide_title":false,"_genesis_hide_breadcrumbs":false,"_genesis_hide_singular_image":false,"_genesis_hide_footer_widgets":false,"_genesis_custom_body_class":"","_genesis_custom_post_class":"","_genesis_layout":"","footnotes":""},"categories":[5080,5151,5134,63],"tags":[787,784,788,783,786,785,546],"yoast_head":"\nDiGeorge's Syndrome (Catch-22 Disease) - 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