A 80-YEAR-OLD WOMAN WITH WEAKNESS, FATIGUE, AND ACUTE RESPIRATORY-FAILURE - CASE-REPORT AND DISCUSSION OF THE DIFFERENTIAL-DIAGNOSIS

A 60-year-old woman with chronic progressive fatigue, diurnal somnolen ce, proximal muscle weakness, and dyspnea developed acute respiratory failure when given supplemental oxygen. Hypoventilation secondary to n euromuscular dysfunction was suspected by the critical care specialist . Neurologic consultation and supportive laboratory evaluations led to the diagnosis of acid maltase deficiency, which was confirmed by musc le biopsy. The discussion includes a literature review that describes the pathophysiology and treatment of this rare muscle enzyme deficienc y disorder. Acid maltase deficiency should be suspected in any adult p resenting with hypoxemia, fatigue, and acute respiratory failure.