Classical rett syndrome in a Ghanaian child: A case report

Abstract

BACKGROUND: Although Rett Syndrome, a neurodevelopmental disorder in females is thought to be relatively common from worldwide studies. There are few or probably no reports from the West African sub region. OBJECTIVE: To report a case of Rett Syndrome in a Ghanaian. METHODS: Using International Diagnostic criteria for Rett syndrome, a 21-month old female presenting with mental retardation and autistic features was followed up for nearly two years and all clinical features and relevant investigations recorded. RESULTS: Pregnancy and delivery were uneventful, child developed normally till age 12 years when her development began to decline. She exhibited handwriting and bruxism was underweight with microcephaly investigations were normal except for epileptform discharges on EEG and prolonged QT interval on ECG. She was treated with melatonin and dompor for her sleep and reflect problems respectively. The patient met the criteria for a diagnosis of classical Rett Syndrome. CONCLUSION: This report shows that Rett syndrome does exist in the West African sub-region. It is possible to identify the condition in girls presenting with mental retardation or autistic features if they are appropriately followed up.