Approach to neurocutaneous syndromes Quiz: Ace Your Exams
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A 6-year-old girl is evaluated for difficulty walking and frequent falls. She has no fever, cough, difficulty breathing, neck rigidity, convulsions, blurring of vision, or sensory deficits. Her past medical history is significant for delayed motor milestones and recurrent pneumonia. The patient’s temperature is 37°C (98.6°F), pulse is 90/min, respirations are 20/min, blood pressure is 100/60 mmHg, and oxygen saturation is 99% on room air. Ophthalmologic examination reveals abnormal eye movements and tortuous, dilated blood vessels on the bulbar conjunctivae. Physical examination shows hypotonia in all four limbs and tremors in both hands. Deep tendon reflexes are absent, with preserved superficial reflexes. She has a wide-based gait. Which of the following would most likely help confirm the diagnosis in this patient?
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