WBR0290
| Author | [[PageAuthor::Ogheneochuko Ajari, MB.BS, MS [1](Reviewed by Serge Korjian)]] |
|---|---|
| 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. |
| 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:: |