P196 – 3008: Rett syndrome: Case report

Abstract

Objective Rett syndrome is a progressive neurodevelopmental disorder and one of the most common causes of mental retardation. The prevalence rate is from 1:10,000 to 1:23,000 live female births. About 80% cases are sporadic caused by mutations in the MECP2 gene located on Xq28. We present the case of 6.6-year-old girl with Rett Syndrome. Methods and results The patient is first term child, of unrelated young and healthy parents. First uneventful pregnancy, labour in term, spontaneous AS: 8/9, head circumference 34cm. Family history – negative on neurological disease. Psychomotor development seemed normal until the age of 12 months, able to sit, smile, few words. At the age of 13 months she was vaccinated and had febrile convulsions. First time admittted at Department at age of two, she had seazure, loss of previously know language skills, uncontrolled arm movents, sudden yelling. Neuropediatric examination: no clear neurological deficit. Laboratory analysis – normal, MRI – no abnormalities, ABR test – mild hearing loss, ophtalmologist examination – no disturbance. EEG – epileptic activity, so antiepileptic therapy was introduced (valproat). Diagnosis of epilepsy and autism-like behavior. Parents have accused the vaccine (MRM). At the age of 3 year: stereotypical hand movements, complete loss of speech, epileptic activity, sleep disturbances and orthopedic problem, foot deformities. Psychological assessment: IR 22, level of functioning – 11 month. Genetically testing is not a routine method in our hospital, but was done at age of five. Mutations in MECP2 gene have been found. Now she is 6.6 year, has microcephaly, absent ability to talk, she has hyperventilation, stereotyped movements, chorea, can't eat by herself, difficult swallowing, no epileptic activity. Treatment: Occupational, speech and physical therapy. Conclusion Cytogenetic analysis should be done for epileptics patients with mental retardation. It is an important method for evaluation of mental retardation. At the same time evidence that this case wasn't post-vaccinations autism! RS was clinically defined, while MECP2 have been found in individuals who don't have clinical criteria for RS. Prenatal diagnosis is needed in families with RS daughter.