HISTORY An 18-year-old male runner was referred to our sports medicine clinic with a 1-year history of cramping left foot pain. His symptoms developed insidiously when he increased his speed work training about 1 year previous, with an onset of severe left foot pain and tightness that would develop after about 20 minutes of exercise. The patient also noted occasional cramps in his calves after excessive exercise. He did not notice any swelling, numbness, tingling or burning sensations. He saw numerous private physicians and tried physical therapy, interdigital nerve block, and was immobilized in a walking cast for more than 1 month for a presumed stress fracture without effect. A family history revealed that a 29-year-old sister and uncle had symptoms of cramping in the hands with hard exercise or cold weather. PHYSICAL EXAMINATION The patient had no atrophy or fasciculations of his extremities or tongue. Neurovascular status was intact. He had no current pain associated with the foot with palpation, range of motion, or ambulation. He had full range of motion in all extremities as well as in the cervical and thoracolumbar spine. Neurologic examination, including detailed testing of mental status, cranial nerves, motor/sensory systems, muscle stretch reflexes, coordination, and gait were within normal limits, with the exception of mild proximal muscle weakness noted at the deltoids and triceps rated at 4/5 bilaterally. Distal upper and lower extremity strength were normal. DIFFERENTIAL DIAGNOSIS Compartment syndrome. Metatarsal stress fracture. Plantar fascitis. Interdigital neuroma. Myotonic syndrome. TEST AND RESULTS Blood studies, including cell count, electrolyte, chemistry panel: – Normal MRI scans of the foot: – No sign of interdigital neuroma, metatarsal stress fracture, tenosynovitis, and no evidence of tumor or mass. Stryker examination: – No abnormal pressure increase of the medial, central, and deep posterior compartments of the left and central compartment on the right foot. Serum CPK: – 687 IU/L (normal range for men, 35–232) Repeated CPK study and aldolase after rest from running for two weeks: – 669 IU/L and 9 (normal range, 1–8). Nerve conduction study – Normal Needle electromyography – At rest, abnormal sustained runs of positive sharp waves at virtually every needle site in all limbs studied – Motor unit potentials and recruitment were normal in all muscles. – Following immersion of his hands in cold water for approximately 4–5 minutes, a repeat needle examination of the patients first dorsal interossei in the hand showed a large amount of myotonic discharges. Thyroid function test, eye examination: – Normal Muscle biopsy specimen taken from quadriceps muscle: – No evidence of myotonia dystrophica, inflammation, and metabolic myopathy. FINAL/WORKING DIAGNOSIS Paramyotonia congenital. TREATMENT AND OUTCOMES Carbamazepine and mexiletine, both of which were discontinued secondary to reported adverse effects of subtle cognitive slowing. Phenytoin (400 mg q hs), which lessened the patients symptoms. The patient decided to give up running, as he was not able to maintain mileage high enough to compete successfully at an elite college level.
Read full abstract