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{{WBRQuestion | {{WBRQuestion | ||
|QuestionAuthor=William J Gibson (Reviewed by {{YD}} and {{Rim}}) | |QuestionAuthor=William J Gibson (Reviewed by {{YD}} and {{Rim}}) | ||
|ExamType=USMLE Step 1 | |ExamType=USMLE Step 1 | ||
|MainCategory=Embryology, Genetics, Immunology | |MainCategory=Embryology, Genetics, Immunology | ||
| Line 21: | Line 21: | ||
|MainCategory=Embryology, Genetics, Immunology | |MainCategory=Embryology, Genetics, Immunology | ||
|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 report, 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 | |Explanation=[[DiGeorge syndrome]] or [[22q.11 syndrome]] is caused by a [[microdeletion]] within chromosome 22q11 that results in the abnormal embryological development of the third and the fourth [[branchial pouch]]es. 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]] ([[VSD]]), and [[truncus arteriosus]]), characteristic facial features, and [[thymic hypoplasia]] or aplasia, which is characterized by loss of thymic shadow on chest x-ray and results i. Loss of thymus function results in T-cell immune deficiency and susceptibility to overwhelming infections. Also patients with DiGeorge syndrome often have palatal abnormalities (such as [[velopharyngeal incompetence]], [[cleft palate]], or [[bifid uvula]]) and underactive parathyroid glands, which cause [[hypocalcemia]] and hypocalcemia-induced seizures among neonates. Notably thymic hypo/aplasia is not specific for DiGeorge syndrome; patients with Bruton's agammaglobulinemia and severe combined immunodeficiency disorder (SCID) may also have thymic hypo/aplasia with loss of thymic shadow on chest x-ray. | |||
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]]. Presence of a Barr body in men is observed among patients with Klinefelter syndrome (karyotype 47, XXY). DiGeorge syndrome in a male patient is not associated with detection of a Barr body. | ||
|AnswerD=Abnormal development of | |AnswerD=Abnormal development of the branchial pouch responsible for the development of the thymus only | ||
|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 | |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 involved branchial pouch in DiGeorge syndrome. The 4th branchial pouch, which is 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 | |AnswerEExp=[[DiGeorge syndrome]] is caused by a microdeletion within 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 | ||
}} | }} | ||
Latest revision as of 23:22, 27 October 2020
| 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 report, 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. Presence of a Barr body in men is observed among patients with Klinefelter syndrome (karyotype 47, XXY). DiGeorge syndrome in a male patient is not associated with detection of a Barr body.]] |
| Answer D | AnswerD::Abnormal development of the branchial pouch responsible for the development of the thymus only |
| 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 involved branchial pouch in DiGeorge syndrome. The 4th branchial pouch, which is 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 within chromosome 22.]] |
| Right Answer | RightAnswer::E |
| Explanation | [[Explanation::DiGeorge syndrome or 22q.11 syndrome is caused by a microdeletion 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 (VSD), and truncus arteriosus), characteristic facial features, and thymic hypoplasia or aplasia, which is characterized by loss of thymic shadow on chest x-ray and results i. Loss of thymus function results in T-cell immune deficiency and susceptibility to overwhelming infections. Also patients with DiGeorge syndrome often have palatal abnormalities (such as velopharyngeal incompetence, cleft palate, or bifid uvula) and underactive parathyroid glands, which cause hypocalcemia and hypocalcemia-induced seizures among neonates. Notably thymic hypo/aplasia is not specific for DiGeorge syndrome; patients with Bruton's agammaglobulinemia and severe combined immunodeficiency disorder (SCID) may also have thymic hypo/aplasia with loss of thymic shadow on chest x-ray. 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:: |