Abstract
HISTORY: 21 y/o M collegiate cross country runner presents to team doctor with hand shaking and body cramping after a strenuous 12 mile run. Complained of generalized weakness, abdominal and leg cramping, nausea, diarrhea, slight shaking of his hands, and thirst. Felt well prior to the run. Endorsed increased thirst this week and had been drinking water. Sent to the ER for IV hydration. On his way to the ER, he suddenly became unresponsive with stiffness, shaking, and frothing at the mouth. PHYSICAL EXAMINATION: Temp: 36.9 Celsius, BP: 140/80, HR: 90-110, RR:21-27, SpO2: 100% on RA, GEN: Responsive, staring. Pale. NAD. Photosensitive. No rigidity. Clear speech. PSYCH: Answers “Yup.” to most questions. Occ. confused. Alert. Oriented x3. HEENT: PERRL. EOMI. No LAD. Neck supple. No JVD. CARDIOPULM: CTA B/L. S1, S2, RRR, no MRG, ABD: Soft, NT, ND, no HSM, BS+ , EXT: No edema, capillary refill <2, SKIN: No rash, NEURO: CN II-XII testing limited, but grossly intact. Would not stick out tongue. Opens eyes on request. Normal grasp. Reflexes 2+ DTR’s b/l. DIFFERENTIAL DIAGNOSIS: Metabolic Derangement, Hyponatremia, Hypercalcemia, Hypoglycemia; Rhabdomyolysis/Dehydration; Toxic Encephalopathy; Drug Withdrawal; Intracranial Mass; CNS Infection; Epilepsy TEST AND RESULTS: Initial Na 118, Anion Gap 17, Bicarbonate 15, Magnesium 1.5, initial CPK 917, CK rose to greater than 60,000 despite IV hydration, Toxicology Negative, CT head: questionable hypodensities in the medial temporal lobe, MRI Brain: normal, EEG: negative FINAL WORKING DIAGNOSIS: Seizure induced by Hyponatremia Secondary to Psychogenic Polydipsia; Hyponatremia Induced Myopathy TREATMENT AND OUTCOMES: Sodium corrected in the ICU over a few days. Patient drank a total of 48 oz prior to his run, and 160 oz post-run. Despite hydration and gentle correction of sodium, CK continued to rise. Rhabdomyolysis thought initially due to seizure and muscle breakdown in the setting of aggressive exercise; however, the delayed clearance of CPK raised concerns for glycogen storage deficiency vs genetic dysfunction. Referred to Genetics for a muscle biopsy to rule out glycogen storage deficiency, biopsy pending. Returned to cross country running with strict instructions regarding hydration, runs 5-8 miles without any issues.
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