Role of Respiratory Rehabilitation in Pompe Disease: A Case Report

Abstract

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 disabilities. 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 hyperlipidemia and hypertension was admitted to the ICU for progressive generalized fatigability with acute respiratory 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 refl exes and fl exor plantar response. Blood work had high LDH and CK levels. Spirometry: Restrictive pattern 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. Twenty-four-hour urine: Elevated levels of glucose tetrasaccharide. Genetic study: Carrier heterozygosity mutations c.2173 C< T (p.R725W) and c.2316