BACKGROUND

Pompe disease or glycogen storage disease type II is the accumulation of glycogen in muscle tissue due to a defi ciency of lysosomal acid maltase. Today it is considered to be a rare disease, untreated until 2006. Prevalence is 1 case per 60,000 habitants, incidence is 1 case per 100,000 population per year. The disease causes severe cardiorespiratory and muscular disabili-ties. We report a case diagnosed in the Universitary Hospital Puerta del Mar (Cadiz, Spain), treated in a multidisciplinary way, with emphasis on the effect of pulmonary rehabilitation on increasing respiratory muscle strength. CASE REPORT A 22-year-old male with a history of hyperlipid-emia and hypertension was admitted to the ICU for progressive generalized fatigability with acute respi-ratory failure requiring intubation and mechanical ventilation. Clinical examination revealed a fl accid tetraparesis with proximal amyotrophy girdle, scapular winging, and weakness of the cervical fl exor muscles. The overall muscular balance was 3/5. Weak tendon re-fl exes and fl exor plantar response. Blood work had high LDH and CK levels. Spirometry: restrictive pat-tern with FVC 3.70 l, 2.90 l FEV1 FEV1/FVC 71.76. EMG study: pattern of repetitive discharges. Muscle biopsy suggestive of glycogenosis type II fi ndings