WBR0191

Author	[[PageAuthor::Mahmoud Sakr M.D. (Reviewed by Yazan Daaboul, M.D.)]]
Exam Type	ExamType::USMLE Step 2 CK
Main Category
Sub Category	SubCategory::Endocrine, SubCategory::Neurology
Prompt	[[Prompt::A 9-year-old girl accompanied by her mother presents to the physician's office with complaints of frequent falls, stumbling gait, slurred speech, and impairment of vision. The mother explains that her daughter's symptoms have been progressing for the past few years. On physical examination, the patient has moderate scoliosis and pes cavus. Neurological examination is remarkable for weakness of distal lower extremities, loss of vibratory and proprioceptive sensation, and absent deep tendon reflexes. Heart auscultation reveals a cardiac murmur. Which of the following endocrine abnormalities is associated with this patient's 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::Friedreich's ataxia (FA) is an autosomal recessive genetic disease characterized by progressive neurological disease with involvement of the heart, skeleton, and endocrine system. FA affects children aged 9-16 years old, and patients usually die before they reach 40 years of age. Manifestations of FA include damage to the nervous system, resulting in impaired motor skills ("clumsy" children), 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: References: ]]
Approved	Approved::Yes
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