WBR0112
| Author | [[PageAuthor::William J Gibson (Reviewed by Yazan Daaboul, M.D. and Rim Halaby, M.D. [1])]] |
|---|---|
| Exam Type | ExamType::USMLE Step 1 |
| Main Category | MainCategory::Embryology, MainCategory::Genetics, MainCategory::Immunology |
| Sub Category | SubCategory::Cardiology, SubCategory::Infectious Disease |
| Prompt | [[Prompt::A newborn boy is found to be cyanotic following birth. Appropriate work-up is performed; and the patient is diagnosed with tetralogy of Fallot. In the patient's pre-operative chest x-ray, the radiologist notes an absence of the thymic shadow. The patient then undergoes surgery that successfully corrects his cyanosis. Over the next few days, he suffers a seizure that is attributed to low calcium blood levels. Which of the following abnormalities most likely caused this child’s condition?]] |
| Answer A | AnswerA::Abnormal development of the 1st and 2nd branchial pouches |
| Answer A Explanation | [[AnswerAExp::DiGeorge syndrome is caused by abnormal development of the 3rd and 4th branchial pouches.]] |
| Answer B | AnswerB::Abnormal development of the 2nd and 3rd branchial pouches |
| Answer B Explanation | [[AnswerBExp::DiGeorge syndrome is caused by abnormal development of the 3rd and 4th branchial pouches.]] |
| Answer C | AnswerC::Microdeletion on 7q |
| Answer C Explanation | [[AnswerCExp::Microdeleion of a region on 7q causes William’s syndrome. The patient in this vignette has signs and symptoms of DiGeorge syndrome.]] |
| Answer D | AnswerD::Microdeletion on chromosome 15 |
| Answer D Explanation | [[AnswerDExp::Microdeletion of a region on chromosome 15 causes either Prader-Willi or Angelman’s syndromes.]] |
| Answer E | AnswerE::Microdeletion on chromosome 22 |
| Answer E Explanation | AnswerEExp::DiGeorge syndrome is caused by a microdeletion on chromosome 22. |
| Right Answer | RightAnswer::E |
| Explanation | [[Explanation::DiGeorge syndrome or 22q.11 syndrome is caused by the deletion within chromosome 22q11 resulting in the abnormal embryological development of the third and the fourth branchial pouches that normally give rise to the thymus and the parathyroid glands. Patients suffer from congenital heart disease, especially conotruncal malformations (such as tetralogy of Fallot, interrupted aortic arch, ventricular septal defect, and truncus arteriosus), characteristic facial features, thymic hypoplasia, characterized by loss of thymic shadow on chest x-ray, leading to T-cell immune deficiency and susceptibility to overwhelming infections, palatal abnormalities (velopharyngeal incompetence, cleft palate, bifid uvula), underactive parathyroid gland causing hypocalcemia and hypocalcemia-associated seizures in the neonatal period.
Salient features can be summarized using the mnemonic CATCH-22 to describe DiGeorge syndrome:
Cardiac Abnormality (especially tetralogy of Fallot) |
| Approved | Approved::Yes |
| Keyword | WBRKeyword::Immunodeficiency, WBRKeyword::Genetics, WBRKeyword::T cell, WBRKeyword::Thymus, WBRKeyword::Infection. Cardiology, WBRKeyword::Tetralogy of Fallot |
| Linked Question | Linked:: |
| Order in Linked Questions | LinkedOrder:: |