Progressive thoracolumbar scoliosis culminating in the diagnosis of young pompe disease: case report

Introduction: Pompe’s disease is a neuromuscular condition caused by a metabolic disorder of autosomal recessive inheritance. The deficit of acid alpha-glucosidase causes accumulation of glycogen in the lysosomes of the striated and cardiac muscle. It presents in childhood: hypotonia and cardiorespiratory impairment; but at late-onset: axial and waist muscle weakness. Case report: Patient, female, 20 years old, non-consanguineous parents, with good intra-uterus fetal mobility, was born by cesarean delivery weighing 3.7 kilograms and 51 centimeters. She first walked without support and spoke her first words at 13 months of age. By the age of 12, she started progressive thoracolumbar scoliosis and underwent posterior spinal arthrodesis two years later. During the follow-up, muscle weakness was found. Furthermore, she presented macrocephaly, high myopia, fusion of cervical vertebrae, progressive scoliosis, dolichostenomelia and joint hypermobility. Extensive investigation was carried out with laboratory tests that showed CPK elevation, imaging tests and mutation research for facio-scapular-humeral muscular dystrophy and type 2A waistband muscular dystrophy. The incisional biopsy found mixed muscle changes with deposit of amorphous material. Pompe’s disease was confirmed by a significant reduction in alpha-glucosidase activity. The patient evolved with weakness in the legs and fatigue on moderate efforts, but also weakness in the lower limbs, detachable on the right and hyporeflexia, on physical examination. Conclusions: Progressive thoracolumbar scoliosis, refractory to postural and surgical corrections, should be an alert for differential diagnoses. Changes in axial musculature can be suggested and Pompe’s disease, a potentially treatable condition, must become relevant.