WBR0290: Difference between revisions

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|MainCategory=Biochemistry, Pathology
|MainCategory=Biochemistry, Pathology
|SubCategory=Gastrointestinal, Neurology
|SubCategory=Gastrointestinal, Neurology
|MainCategory=Biochemistry, Pathology
|MainCategory=Biochemistry, Pathology
|MainCategory=Biochemistry, Pathology
|MainCategory=Biochemistry, Pathology
|MainCategory=Biochemistry, Pathology
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|MainCategory=Biochemistry, Pathology
|MainCategory=Biochemistry, Pathology
|SubCategory=Gastrointestinal, Neurology
|SubCategory=Gastrointestinal, Neurology
|Prompt=A 6-year-old female is brought to the ER by her mother with complaints of fever of 101.5F, frequent passage of watery stools, vomiting and abdominal pain. Past medical history was significant for recurrent sinopulmonary infections. Physical examination revealed ulceration in the oral mucosa, hepatosplenomegaly, blonde hair, blue eyes and peripheral neuropathy. Which of the following is involved in this condition?
|Prompt=A 10-year-old girl is brought to the emergency department for complaints of fever, recurrent watery diarrhea, and abdominal pain. Her family emigrated from Romania 1 year ago, and the child has not received any medical care since. The mother reports that her child has had a history of recurrent sinusitis and multiple hospitalizations for pneumonia since the age of 4. On physical examination, you notice a sick looking girl with a fair complexion, sparse light blonde hair, and blue eyes. You also note several aphthous ulcers, mild hepatosplenomegaly, and decreased pin-prick sensation in both lower extremities. Which of the following defects is most likely to be responsible for this patient's condition?
|AnswerA=Dynein arm defect
|AnswerA=Dynein arm defect
 
|AnswerB=Lysosomal degranulation defect
|AnswerB=Lysosomal degranulation defect
|AnswerC=Type 1 collagen defect
|AnswerC=Type 1 collagen defect
|AnswerD=Kinesin arm defect
|AnswerD=Kinesin arm defect
|AnswerE=Defect in fibrillin
|AnswerE=Defect in fibrillin
|EducationalObjectives=Chediak-Higashi syndrome is a rare autosomal recessive immunodeficiency disorder caused by a defect in lysosomal degranulation and phagolysosome formation. It presents with partial albinism, peripheral neuropathy, and pyogenic sinopulmonary infections. Other findings include lymphadenopathy, hepatosplenomegaly, and mucosal ulcerations.
|References=Kaplan J, De Domenico I, Ward DM. Chediak-Higashi syndrome. Curr Opin Hematol. Jan 2008;15(1):22-9.
|RightAnswer=B
|RightAnswer=B
|WBRKeyword=Sinopulmonary infection
|WBRKeyword=Sinopulmonary infections, Peripheral neuropathy, Partial albinism, Pyogenic infections, Chediak-Higashi syndrome, Phagolysosome, Lysosomal degranulation, Congenital immunodeficiency, Immunodeficiency syndromes
|Approved=No
|Approved=Yes
}}
}}

Revision as of 13:37, 15 September 2014
Author [[PageAuthor::Ogheneochuko Ajari, MB.BS, MS [1]]]
Exam Type ExamType::USMLE Step 1
Main Category MainCategory::Biochemistry, MainCategory::Pathology
Sub Category SubCategory::Gastrointestinal, SubCategory::Neurology
Prompt [[Prompt::A 10-year-old girl is brought to the emergency department for complaints of fever, recurrent watery diarrhea, and abdominal pain. Her family emigrated from Romania 1 year ago, and the child has not received any medical care since. The mother reports that her child has had a history of recurrent sinusitis and multiple hospitalizations for pneumonia since the age of 4. On physical examination, you notice a sick looking girl with a fair complexion, sparse light blonde hair, and blue eyes. You also note several aphthous ulcers, mild hepatosplenomegaly, and decreased pin-prick sensation in both lower extremities. Which of the following defects is most likely to be responsible for this patient's condition?]]
Answer A AnswerA::Dynein arm defect
Answer A Explanation AnswerAExp::
Answer B AnswerB::Lysosomal degranulation defect
Answer B Explanation AnswerBExp::
Answer C AnswerC::Type 1 collagen defect
Answer C Explanation AnswerCExp::
Answer D AnswerD::Kinesin arm defect
Answer D Explanation AnswerDExp::
Answer E AnswerE::Defect in fibrillin
Answer E Explanation AnswerEExp::
Right Answer RightAnswer::B
Explanation [[Explanation::

Educational Objective: Chediak-Higashi syndrome is a rare autosomal recessive immunodeficiency disorder caused by a defect in lysosomal degranulation and phagolysosome formation. It presents with partial albinism, peripheral neuropathy, and pyogenic sinopulmonary infections. Other findings include lymphadenopathy, hepatosplenomegaly, and mucosal ulcerations.
References: Kaplan J, De Domenico I, Ward DM. Chediak-Higashi syndrome. Curr Opin Hematol. Jan 2008;15(1):22-9.]]

Approved Approved::Yes
Keyword WBRKeyword::Sinopulmonary infections, WBRKeyword::Peripheral neuropathy, WBRKeyword::Partial albinism, WBRKeyword::Pyogenic infections, WBRKeyword::Chediak-Higashi syndrome, WBRKeyword::Phagolysosome, WBRKeyword::Lysosomal degranulation, WBRKeyword::Congenital immunodeficiency, WBRKeyword::Immunodeficiency syndromes
Linked Question Linked::
Order in Linked Questions LinkedOrder::
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