Case Report: Rett Syndrome
Dicky S, Dida AG, Herri SS, Anas S
Fakultas Kedokteran Universitas Islam Bandung
Abstract
CASE REPORT: RETT SYNDROME Rett syndrome is a progressive neurodegenerative disorder accompanied by autistic behavior, stereotypic hand movements, dementia, ataxia, epilepsy, growth disturbance, mental retardation, and often occurs in girls. The cause of Rett syndrome is due to a mutation in the MeCP2 gene. The purpose of this case report is a case review. A 14-year-old girl came to the Al Islam Bandung Hospital emergency with the diagnosis of Dengue Shock Syndrome, Pulmonary Tuberculosis, Rett Syndrome. The patient was treated for 2 weeks, with complications of Respiratory Failure, UTI, Gastrointestinal Bleeding, Anemia, Epilepsy, Stomatitis, and Feeding Problems. Patients are known to suffer from Retts Syndrome since the age of 1 year. At this time the patient has reached stage 4 Rett Syndrome (late motor decline), with symptoms of scoliosis, muscle spatisity, severe physical disability, convulsions, dystonia, bradykinesia. The management of Rett Syndrome has so far aimed at improving and slow progression, as well as symptomatic treatment, thus requiring medical teams. The prognosis of Rett syndrome is unknown. Some patients die during childhood due to airway complications, arrhythmias, nutritional disorders, but many reach middle age.
Keywords: Autistic Disorder, Rett Syndrome
Topic: Infectious and Non Infectious Diseases