Late onset of pompe disease, involvement of three brothers: A case report

Abstract

A 49-year-old Brazilian male, experienced progressive weakness to walk, especially to climb stairs and get up since 2013. He denied any instances of myalgias, paresthesia, dysphagia, dysarthria, or dysautonomia. His two brothers reported difficulty getting up from the ground. Increased lordosis, bilaterally winged scapulae, quadriceps atrophy, Gowers sign, and hypoactive tendon reflexes globally. He showed tongue weakness, muscular strength in the lower limbs grade 3/5 during flexion. The muscle strength in the upper limbs was of grade 4/5 during the abduction. He showed normal sensitivity. Creatine kinase, lactate dehydrogenase, and aldolase were increased. An electrocardiogram revealed an incomplete right bundle branch block and left atrial hypertrophy. His acid alpha-glucosidase activity measured was 1.4 μmol/L/h (normal > 4), while his sister’s (62 years old ) enzyme level was 0.98 μmol/L/h and his brother’s (51 years old) was 1.31 mol/L/h. Enzyme replacement was initiated and the patient showed a slight improvement in muscle strength. Pompe disease (PD) is caused by the partial or total deficiency of the enzyme acid alpha-glucosidase activity causing glycogen accumulation in the cells, with muscular involvement.1 In the United States, the prevalence of PD is one in every 28,000 births.2 It is an autosomal recessive disease. The risk of recurrence in the offspring is approximately 25%. The diagnosis of PD justifies the active investigation of the disease among the siblings.1 We report a case of late-onset PD with involvement of two relatives in addition to the indexed patient.