An 11-year-old boy is brought to the physician for the evaluation of frequent falling. His mother reports that the patient has had increased difficulty walking over the past few months and has refused to eat solid foods for the past 2 weeks. He has met all developmental milestones. The patient has had multiple ear infections since birth. His temperature is 37.0°C (98.6°F), pulse is 90/min, and blood pressure is 120/80 mm Hg. Examination shows foot inversion with hammer toes bilaterally. His gait is wide-based with irregular and uneven steps. This patient is at greatest risk of dying from which of the following conditions?

Question

Quizplus · Accepted Answer

Eductional Objective: Friedreich ataxia is an autosomal recessive condition that presents during childhood/adolescence with progressive gait ataxia (due to degeneration of the spinocerebellar tracts) and impaired joint and vibration sense (due to degeneration of the posterior columns and dorsal root ganglia).  Other features include hypertrophic cardiomyopathy (most common cause of death), skeletal abnormalities (eg, kyphoscoliosis, pes cavus), and diabetes mellitus.

An 11-Year-Old Boy Is Brought to the Physician for the Evaluation