| Abstract: | A 16-year-old high school male student was admitted to our hospital with complaints of difficulty in walking and muscle atrophy of the lower legs. He noticed his gait disturbance when he was about 12 years old and his symptoms had gradually increased. On examination, he was unable to walk on his heels and on his toes. He had mild pes cavus and marked muscle wastes of the lower legs. The weakness was limited to the feet, lower legs, and hands. Mild sensory losses were demonstrated inside of the feet. Autonomic dysfunction was not present. The deep tendon reflexes were diminished. Nerves were not enlarged or excessively firm. On laboratory examinations, pyruvate and lactate were elevated in both serum and cerebrospinal fluid. The serum level of coenzyme Q10 (CoQ10) was low (0.57 micrograms/ml). Nerve conduction velocities were normal or just below normal except sural nerves and amplitudes of M waves were decreased. The sural nerve finding revealed marked reduction in number of large myelinated fibers and no onion bulb formation. The teased myelinated fiber analysis suggested ongoing axonal degeneration. Electron microscopy showed no mitochondrial abnormalities in muscle and nerve. The therapeutic trial of large dose of CoQ10 (120 mg/day) was dramatically effective to muscle weakness and atrophy at about third week after therapy. His gait disturbance disappeared after about 16 months. These findings may indicate an alteration of mitochondrial function in this case. |
