Although the first case report about Rett’s syndrome comes from 1961, it did not gain ground until 2000, when Barry Rinehart made a documentary movie about girls suffering from this disorder, entitled “Silent Angels. The Rett Syndrome Story”, featuring Julia Roberts as a narrator. Rett syndrome is a pervasive developmental disorder, occurring primarily in girls population, connected with mutation in MECP2 gene, which is situated on X chromosome2. It leads to developmental regression and loss of previously acquired skills. Causal treatment is still not known.
A 16-year-old girl with suspected Rett’s syndrome was admitted to hospital with four months of progressing walking disorders history. Six months earlier she underwent an orthopedic surgery because of the scoliosis (among 90°). Parents claimed that problems with walking began few weeks after the surgery.
Anamnesis: She developed normally up to 2 years of age, pronounced single words, however at age of 2 she developed loss of speech and parents noticed compulsive hands movements (washing). At 5 years she was in hospital because of febrile convulsions and at 8 because of chronic constipation (Hirschsprung disease was excluded). There was no history of hyperventilation. The girl required full time care.
On examination: hypomimia, hypertonia, washing hands movements, autistic behavior were observed. The initiation of the motor movement seemed to be quite difficult for the girl. Her gait was unsteady, wide-based and stiff-legged with tendencies to fall. Systemic examination: microcephaly, underweight, flatulence.
Her MRI of brain revealed cortical and subcortical brain atrophy and the extension of cortical fissures. EEG showed abnormal record. Laboratory: normal.
Based on previous studies, other brain diseases which might lead to walking disorders were excluded. Genetics consultation was commissioned. Typical regression of the development in first years of life, characteristic phenotype (microcephaly) and symptoms (involuntary hands movements, autism, gait abnormalities) excluding other brain diseases or traumas indicated Rett syndrome as a cause of progressing walking disorders.
Molecular testing revealed mutation in MECP2.
The diagnosis was: Rett syndrome in late motor deterioration stage.
Rett syndrome is rather a rare genetic mutation (1 in 10 000/20 000 female birth3), but as a medical staff we may encounter it working in different branches of medicine: paediatrics, neurology, psychiatry or family medicine. Therefore it is very important to know basic criteria of this disorder.
There are four stages of Rett syndrome, which were divided depending on predominant symptoms. The 1st stage (early onset) usually begins after the 6th month of age and lasts till the 2nd year. It might be overlooked even by doctors because there is only a subtle developmental slowing, on the contrary to the second stage, called rapid destructive stage. With the beginning between 1st and 4th year of age, it is characterized by irreversible, progressive loss of hand skills, social interactions and spoken language. Stereotypical hands movements, breathing irregularities and gait difficulties appear. Examination revealed a slowing rate of head growth. The 3rd stage (plateau, pseudo-stationary stage), that typically begins at the age of 2 and may last for many years, is characterized by apraxia, seizures and a possible improvement in behavior and communication skills. The last, 4th stage (late motor deteriorating stage) includes: scoliosis, muscle weakness, spasticity, hypertonia in limbs and the deterioration of walking ability and, as the previous stage, may last for many years4.
Correct identification of the stage of Rett syndrome progress is significant in symptomatic treatment and enables to conduct an adequate therapy, which is crucial to providing girls with Rett syndrome with as good as possible quality of life.
If someone is interested in Rett syndrome, I can strongly recommend the earlier mentioned movie by Barry Rinehart (Silent Angels. The Rett Syndrome Story), directed by Barry Rinehart, USA, 20 August 2000) with Julia Robert as a narrator of stories about families with children suffering from this disorder.
2.Bodzioch Marek, Kompendium chorób neurogenetycznych, Zespół Retta, w: Medycyna Praktyczna/Neurologia, 2010/01, s.81-84