Holly's Heart and Hamstrings

Holly, a 29-year-old woman, had normal birth, motor, and developmental milestones. Her neurological problems began at age 8, when her performance in gym deteriorated. Examination by her pediatrician, at that time, revealed highly arched feet. At age 12, she was no longer able to ride her bike. During her pubertal growth spurt, kyphoscoliosis was detected in a school screening program. The pediatric orthopedist to whom Holly was referred, prescribed a Milwaukee brace for her back. He also requested a neurologic consultation because her gait had become increasingly abnormal over the previous 6 years.

Examination by her neurologist revealed a broad-based, ataxic gait, mild dysarthria, nystagmus on lateral gaze, mild dysmetria on heel-to-shin testing, absent knee and ankle jerks, bilateral Babinski signs, and diminished proprioception and perception of vibration in her feet.

The patient's condition continued to worsen. During high school, her handwriting deteriorated, and her increasingly dysarthric speech was imitated by her classmates and her younger brother. Although she did attend her Senior Prom, she could only manage slow dances. At age 21, she was unable to sit unaided, and Holly became wheelchair bound.

On examination, at the age of 21, her legs were grossly dysmetric; her iliopsoas, hamstring, and anterior tibial muscles were weak; and she did not feel vibration in her toes and ankles.

At age 25, she had palpitations. A chest x-ray found an enlarged heart, and an EKG showed T-wave inversion in the lateral chest leads. At age 29, Holly developed insulin-dependent diabetes mellitus. Her speech is now so slow and slurred, that her parents must serve as interpreters.

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