P.12 A case report of near normalization of serum creatine phosphokinase in a patient with Duchenne muscular dystrophy during acute pancreatitis

Abstract

Creatine phosphokinase (CPK) is a muscle-specific protein that has served a vital role as a diagnostic biomarker for Duchenne Muscular Dystrophy (DMD). It is also often used to track disease progression in DMD. However, its role as a monitoring, or predictive biomarker is less clear. We describe a 6-year-old boy with DMD caused by duplication of exon 2 of the dystrophin gene as well at IgG deficiency. He presented acutely to the emergency department with brown colored urine in the setting of five days of non-bloody non-bilious emesis, abdominal pain and poor oral intake. His initial examination was notable for signs of moderate dehydration and a soft, non-tender abdomen. His initial laboratory evaluation was notable for anion gap metabolic acidosis, hyponatremia and hypoglycemia. He was ultimately diagnosed with acute pancreatitis after lipase was found to be 2201.0 unit/L (ref 48.0-199.0 unit/L) on day of his admission. He was placed on intravenous fluids and admitted for a total of 3 days with complete recovery. This individual had a baseline CPK of 11,000-21,000 unit/L at previous outpatient visits. Of note, CPK level was obtained on the day of his hospital admission and was found to be 284 unit/L (ref 30-250). The day after admission, CPK was rechecked twice and were 312 and 322 unit/L separately. Fourteen days after admission, CPK was rechecked and had returned to near his previous baseline at 15,496 unit/L. Pancreatitis and other acute inflammatory conditions in DMD are rare. Transient near normalization of CPK has been described previously in one patient with Becker Muscular Dystrophy patient during transient arthritis. To our knowledge, our patient is the first reported case of normalization of CPK level in DMD during acute inflammatory disease. We hypothesize the transient normalization of CPK was secondary to active systemic response during the acute inflammation. Studies to look deeper into reasons that may underlie such a phenomenon may shed light in finding protective mechanisms associated with the inflammation pathway.