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|SubCategory=Cardiology, Infectious Disease | |SubCategory=Cardiology, Infectious Disease | ||
|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? | |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? | ||
|Explanation=[[DiGeorge syndrome]] or 22q.11 syndrome is caused by the deletion within chromosome 22q11 | |Explanation=[[DiGeorge syndrome]] or 22q.11 syndrome is caused by the deletion within chromosome 22q11 that results in the abnormal embryological development of the third and the fourth branchial pouches. These pouches normally give rise to the thymus and the parathyroid glands. | ||
Patients with DiGeorge syndrome 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), and 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:<br /> | Salient features can be summarized using the mnemonic CATCH-22 to describe DiGeorge syndrome:<br /> | ||
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|AnswerB=Abnormal development of the 2nd and 3rd branchial pouches | |AnswerB=Abnormal development of the 2nd and 3rd branchial pouches | ||
|AnswerBExp=[[DiGeorge syndrome]] is caused by abnormal development of the 3rd and 4th branchial pouches. | |AnswerBExp=[[DiGeorge syndrome]] is caused by abnormal development of the 3rd and 4th branchial pouches. | ||
|AnswerC= | |AnswerC=Presence of a Barr body | ||
|AnswerCExp= | |AnswerCExp=Presence of [[Barr body]], an inactive X chromosome in a female somatic cell, is a normal finding only in women. X chromosomes are inactivated by a process called [[lyonization]]. | ||
|AnswerD=Abnormal development of only the branchial | |AnswerD=Abnormal development of only the branchial pouches responsible for the development of the inferior parathyroid glands and the thymus | ||
|AnswerDExp=The 3rd branchial pouch is responsible for the development of the inferior parathyroid glands (dorsal wings) and the thymus (ventral wings). However, the 3rd branchial pouch is not the only invovled branchial pouch in DiGeorge syndrome. The 4th branchial pouch, responsible for the development of the superior parathyroids (dorsal wings) is also involved. | |AnswerDExp=The 3rd branchial pouch is responsible for the development of the inferior parathyroid glands (dorsal wings) and the thymus (ventral wings). However, the 3rd branchial pouch is not the only invovled branchial pouch in DiGeorge syndrome. The 4th branchial pouch, responsible for the development of the superior parathyroids (dorsal wings) is also involved. | ||
|AnswerE= | |AnswerE=A microdeletion | ||
|AnswerEExp=[[DiGeorge syndrome]] is caused by a microdeletion on chromosome 22. | |AnswerEExp=[[DiGeorge syndrome]] is caused by a microdeletion on chromosome 22. | ||
|EducationalObjectives=[[DiGeorge syndrome]] is caused by a microdeletion on chromosome 22q11. It results in the abnormal development of the 3rd and 4th branchial pouches. Signs, symptoms, and features of DiGeorge syndrome are:<br> | |EducationalObjectives=[[DiGeorge syndrome]] is caused by a microdeletion on chromosome 22q11. It results in the abnormal development of the 3rd and 4th branchial pouches. Signs, symptoms, and features of DiGeorge syndrome are:<br> | ||
'''C'''ardiac Abnormality (especially [[tetralogy of Fallot]])<br />'''A'''bnormal [[Facies (medical)|facies]] <br />'''T'''hymic aplasia <br />'''C'''left palate <br />'''H'''ypocalcemia/'''H'''ypoparathyroidism<br />'''22''': Chromosome 22 microdeletion | '''C'''ardiac Abnormality (especially [[tetralogy of Fallot]])<br />'''A'''bnormal [[Facies (medical)|facies]] <br />'''T'''hymic aplasia <br />'''C'''left palate <br />'''H'''ypocalcemia/'''H'''ypoparathyroidism<br />'''22''': Chromosome 22 microdeletion | ||
|References=First Aid 2014 page 91 | |References=Wilson DI, Burn J, Scambler P, et al. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993;30(10):852-6. | ||
First Aid 2014 page 91 | |||
|RightAnswer=E | |RightAnswer=E | ||
|WBRKeyword=Immunodeficiency, Genetics, T cell, Thymus, Infection. Cardiology, Tetralogy of Fallot, | |WBRKeyword=Immunodeficiency, Genetics, T cell, Thymus, Infection. Cardiology, Tetralogy of Fallot, | ||
|Approved=Yes | |Approved=Yes | ||
}} | }} | ||
Revision as of 21:22, 9 September 2014
| 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::Presence of a Barr body |
| Answer C Explanation | [[AnswerCExp::Presence of Barr body, an inactive X chromosome in a female somatic cell, is a normal finding only in women. X chromosomes are inactivated by a process called lyonization.]] |
| Answer D | AnswerD::Abnormal development of only the branchial pouches responsible for the development of the inferior parathyroid glands and the thymus |
| Answer D Explanation | [[AnswerDExp::The 3rd branchial pouch is responsible for the development of the inferior parathyroid glands (dorsal wings) and the thymus (ventral wings). However, the 3rd branchial pouch is not the only invovled branchial pouch in DiGeorge syndrome. The 4th branchial pouch, responsible for the development of the superior parathyroids (dorsal wings) is also involved.]] |
| Answer E | AnswerE::A microdeletion |
| 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 that results in the abnormal embryological development of the third and the fourth branchial pouches. These pouches normally give rise to the thymus and the parathyroid glands.
Patients with DiGeorge syndrome 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), and 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: |
| 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:: |