Muscle Weakness and Pain With Profound Hypophosphatemia: Mystery Revealed
P. Hanley, MD1, Robert J. Cunningham, MD1, Linda Lou, BA1, B. Vog, MD1, and R. Raina, MD1
Case Report A 14-year-old male with a history of septo-optic dysplasia, panhypopituitarism, and epilepsy presented for inpatient evaluation after laboratory studies for his worsening muscle weakness and muscle pain found new onset normoglycemic glucosuria and proteinuria (urinary protein/creatinine ratio of 2.9 with minimal albumin fraction). The year prior to admission, he became gradually unable to ambulate and was wheelchair bound. Orthopedic and neurologic evaluations for his progressive weakness and difficulty with ambulation were unrevealing to date. Laboratory evaluation on admission showed profound hypophosphatemia (0.6 mg/dL), a nonanion gap metabolic acidosis, and normal kidney function (creatinine = 0.4 mg/dL). In addition, he had hyperuricosuria, (fractional excretion of urate 64%; normal,