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Pathology - DiGeorge Syndrome
congenital thymic aplasia is more often known as DiGeorge syndrome. The condition originates from a failure of the third and fourth pharyngeal pouches to form, resulting in absence of the thymus and parathyroid glands. CATCH-22 is a famous mnemonic used to memorize the clinical signs of the condition. The primary findings are connected to C ardiac defects, as suggested by this patient’s typical ventricular septal defect murmur, as well as A bnormal midline features, including the facial traits mentioned in this patient. Failure of T hymic development results in absence of T cells and susceptibility to opportunistic pathogens, particularly P. jirovecii . C left palate is also a common finding. The lack of PTH can generate symptomatic H ypocalcemia and tetany, as evidenced by the positive Trousseau’s sign (carpal and phalangeal spasm) when the blood pressure cuff is inflated on the patient. The normal genetic mutation is not inherited, but rather a random deletion of the long arm on chromosome 22 (22q11.2 deletion). Live vaccines (e.g., measles, small pox, varicella) are contraindicated. Presentation can be as severe as those of SCID. Therapy involves antimicrobial prophylaxis and thymic transplantation, however the risk of graft-versus-host disease (GVHD) is substantial.
congenital thymic aplasia is more often known as DiGeorge syndrome. The condition originates from a failure of the third and fourth pharyngeal pouches to form, resulting in absence of the thymus and parathyroid glands. CATCH-22 is a famous mnemonic used to memorize the clinical signs of the condition. The primary findings are connected to C ardiac defects, as suggested by this patient’s typical ventricular septal defect murmur, as well as A bnormal midline features, including the facial traits mentioned in this patient. Failure of T hymic development results in absence of T cells and susceptibility to opportunistic pathogens, particularly P. jirovecii . C left palate is also a common finding. The lack of PTH can generate symptomatic H ypocalcemia and tetany, as evidenced by the positive Trousseau’s sign (carpal and phalangeal spasm) when the blood pressure cuff is inflated on the patient. The normal genetic mutation is not inherited, but rather a random deletion of the long arm on chromosome 22 (22q11.2 deletion). Live vaccines (e.g., measles, small pox, varicella) are contraindicated. Presentation can be as severe as those of SCID. Therapy involves antimicrobial prophylaxis and thymic transplantation, however the risk of graft-versus-host disease (GVHD) is substantial.
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