WBR0191
| Author | PageAuthor::Mahmoud Sakr M.D. |
|---|---|
| Exam Type | ExamType::USMLE Step 2 CK |
| Main Category | MainCategory::Pediatrics |
| Sub Category | SubCategory::Endocrine, SubCategory::Neurology, SubCategory::Pediatrics, SubCategory::Genetics |
| Prompt | [[Prompt::A 9-year-old girl accompanied by her mother presents with complaints of frequent falls, stumbling gait, slurred speech and impairment of vision. Symptoms have been slowly progressive for several years. On exam, she has moderate scoliosis, weakness of distal lower extremities, Loss of vibratory and proprioceptive sensation and absent deep tendon reflexes. Heart auscultation reveals a cardiac murmur. Ophthalmologic exam reveals only perception of light in both eyes. Which of the following endocrine abnormalities is most likely to develop with this condition:]] |
| Answer A | AnswerA::Adrenal insufficiency |
| Answer A Explanation | AnswerAExp::Friedreich's ataxia is not known to be associated with adrenal insufficiency. |
| Answer B | AnswerB::Diabetes mellitus |
| Answer B Explanation | AnswerBExp::About 20% of people with Friedreich's ataxia develop carbohydrate intolerance and 10% develop diabetes mellitus. |
| Answer C | AnswerC::Cushing syndrome |
| Answer C Explanation | AnswerCExp::Friedreich's ataxia is not known to be associated with Cushing syndrome. |
| Answer D | AnswerD::Polycystic ovaries |
| Answer D Explanation | AnswerDExp::Friedreich's ataxia is not known to be associated with polycystic ovaries. |
| Answer E | AnswerE::Acromegaly |
| Answer E Explanation | AnswerEExp::Friedreich's ataxia is not known to be associated with acromegaly. |
| Right Answer | RightAnswer::B |
| Explanation | [[Explanation::This patient has Friedreich's ataxia which is an autosomal recessive inherited disease that causes progressive damage to the nervous system, resulting in symptoms ranging from gait disturbance to speech problems; it can also lead to heart disease and diabetes. About 20% of people with Friedreich's ataxia develop carbohydrate intolerance and 10% develop diabetes mellitus. It presents before 25 years of age with progressive staggering or stumbling gait and frequent falling. Lower extremities are more severely involved. The symptoms are slow and progressive. Long-term observation shows that many patients reach a plateau in symptoms in the patient's early adulthood. On average, after 10–15 years with the disease, patients are usually wheelchair bound and require assistance with all activities of daily living. Other abnormalities included in the answers have not been known to be associated with Friedreich's ataxia Educational Objective: |
| Approved | Approved::Yes |
| Keyword | |
| Linked Question | Linked:: |
| Order in Linked Questions | LinkedOrder:: |