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Título

THE IMPORTANCE OF DIAGNOSING POMPE DISEASE AMONG NEUROMUSCULAR DISEASES: A CASE REPORT

RESUMO

CASE PRESENTATION: TRA, male, 3 years and 7 months old. At 2, he started having abdominal pain and alteration in the transaminases. After an investigation with a gastropediatrician, without a clear diagnosis, a neuromuscular condition was suspected, and the patient was referred to a neuropediatrician. The mother reported that, from 1 year and 6 months old, the child began to show difficulty to climb stairs, symptoms that were not valued. At 2 and 3 months, he began to have difficulty walking, dysphagia, fatigue on moderate and big efforts and nocturnal hypoventilation. The CPK level was 2175, and molecular tests for spinal muscular atrophy, Steinert's myotonic dystrophy and facioscapulohumeral muscular dystrophy were negative. Electroneuromyography revealed altered motor response. Neuromuscular Disease Panel was performed: 2 acid alpha-glucosidase (GAA) variants in heterozygous pathogenic were found, which confirms the diagnosis of Pompe disease, with an alpha-glycosidase dosage of 0.26. In addition, the patient has Autistic Spectrum Disorder. DISCUSSION: Pompe disease has an incidence of 1:40,000 live births, being a lysosomal storage disease caused by a mutation in the gene encoding GAA, leading to intracellular glycogen accumulation. The disease is characterized by muscle weakness, hypotonia, dysphagia, and respiratory failure, cardiomyopathy, among other nonspecific symptoms. It can be classified in Infantile Onset Pompe Disease (IOPD) and Late Onset Pompe Disease (LOPD). IOPD symptoms appear up to 12 months of age, with associated heart disease. In the late form, symptoms appear after 12 months, but are less severe. The diagnosis is made by the GAA enzyme dosage, followed by a molecular test. The treatment is carried out by the enzyme replacement. The introduction of enzyme replacement in patients diagnosed with Pompe, in 2006, changed the prognosis of the disease, as it stabilized the damage caused by the intracellular accumulation of glycogen. Therefore, with early diagnosis, it is possible to quickly institute the appropriate therapeutic measures, ensuring a better quality of life and preventing irreversible lesions. FINAL COMMENTS: Pompe disease, although rare, should be considered as a differential diagnosis in pediatric patients with neuromuscular symptoms. Since it has a disease-modifying therapy, an early diagnosis can significantly change the patient's prognosis. There is no evidence of a relationship between Pompe disease and Autism.

Palavras Chave

Pompe disease, glycogen storage disease type II, human recombinant acid alpha-glycosidase, GAA, myopathy.

Área

Doenças Neuromusculares