DiGeorge Syndrome: Thymic Aplasia

DiGeorge syndrome arises because of a microdeletion of chromosome 22q11.2.

This deletion of genetic material leads to a developmental defect that involves the third and fourth pharyngeal pouches. Hypoplasia of the thymus and parathyroid glands, aortic arch as well as facial malformations and learning difficulties are most common abnormalities seen in such cases.

• Patients have reduced T cell numbers due to thymic hypoplasia.
• Reduced T cell number –recurrent viral and fungal infections.
• Conotruncal abnormalities ---Tetrology of Fallot and truncus arteriosus.
• Parathyroid gland aplasia—Reduced Parathyroid hormone—Low calcium—Tetany  

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Neonatal hypocalcemia should raise suspicion for this syndrome, especially if the hypocalcemia or heart defect is coupled with cleft palate.

Further Reading https://www.bjmp.org/content/case-report-digeorge-syndrome-presenting-hypoparathyrodism-and-learning-difficulties-adulthood

Revision for today https://creativemeddoses.com/topics-list/marfan-syndrome-quick-review/