No abstract available.
Rett Syndrome*

Rett syndrome is a neurodevelopmental disease that almost always affects female patients. It is caused by mutations in MeCP2 in the majority of cases. Patients diagnosed with Rett syndrome may experience serious adverse events even with smaller amounts of medication for sedation and anesthesia. The major anesthetic concerns associated with Rett syndrome are lack of cooperation, abnormal continuous limb movements, abnormal respiratory control, difficult positioning secondary to scoliosis, and altered sensitivity to painful stimuli. Because of the risks caused by these problems, anesthesiologists should be aware of the specific anesthetic concerns of patients with Rett syndrome in order to safely administer anesthesia. Here, we describe the management of a pediatric patient diagnosed with Rett syndrome.
Anesthesia ; Dyskinesias ; Extremities ; Female ; Humans ; Rett Syndrome* ; Scoliosis

OBJECTIVE: To identify the clinical characteristics and investigate function related aspects of Korean children with Rett syndrome. METHOD: A total of 26 patients diagnosed as Rett syndrome were clinically observed until the age of five or over. We surveyed past history, developmental history, and presence of typical clinical features of Rett syndrome. Furthermore, we investigated differences in clinical characteristics according to functional status and changes in clinical features related to growth. RESULTS: There were no problems related to gestational, perinatal or neonatal history. Only 12 patients had an ultimate head circumference of less than 3 percentile. Developmental regression was definite in all patients. At final assessment, only 14 patients were able to walk. Twenty patients had an epileptic history requiring medication. Sixteen patients with scoliosis showed progression during serial follow-up. The percentage of patients who were able to walk before 16 months was higher in the high function group than the low function group. The age of regression was 5.4 and 4.0 years in the high and low function group respectively, but the difference was not statistically significant. Scoliosis was more severe and seizure onset age was younger in the low function group. CONCLUSION: We investigated 26 clinical characteristics in Korean children with Rett syndrome. Their clinical features change according to age, and we believe such knowledge could be utilized in rehabilitation to minimize their disabilities.
Age of Onset ; Child ; Follow-Up Studies ; Gait ; Head ; Humans ; Rett Syndrome ; Scoliosis ; Seizures

Rett syndrome is progressive neurodegenerative disorder in female patients, characterized by autistic behavior, mental retardation, loss of purposeful hand skills, stereotypic hand movement, breathing dysfunction, severely impaired language, ataxia, and seizure. The diagnosis of Rett syndrome is based on its characteristic clinical manifestation and course. The electroencephalographic (EEG) findings of Rett syndrome are nonspecific, but a progressive deterioration in the EEG, characterized by a slowing of background activity and spike sharp wave discharges, may be observed. We experienced one case of Rett syndrome in a 5 year old girl having mental retardation, loss of purposeful hand skills, stereotypic hand movements (clapping, washing, hand-to-mouth), breathing dysfunction (hyperventilation/apnea). Her EEG findings on Video-EEG monitoring are excessive slowing waves during awake state and frequent spike discharges from left or centrotemporal area during sleeping. We report a case of Rett syndrome with brief review of related literatures.
Ataxia ; Child, Preschool ; Diagnosis ; Electroencephalography ; Female ; Hand ; Humans ; Intellectual Disability ; Neurodegenerative Diseases ; Respiration ; Rett Syndrome* ; Seizures

PURPOSE: Rett syndrome (RS) is an X-linked dominant neurodevelopmental disease. The patients with RS have normal early development, however, experience gradual regression of speech and motor development. About 2/3 of the patients develop seizures and usually show characteristic EEG findings. This study was performed to investigate whether there is correlation between clinical staging and EEG features in RS. METHODS: Thirty-five patients diagnosed as having RS from 2003 to 2007 at Seoul National University Children's Hospital were retrospectively evaluated. Diagnosis of RS was made according to consensus diagnostic criteria in 2001. RESULTS: Epileptic seizures were present in 30 patients (85.7%). The seizure onset according to the clinical staging was as follows: 3 patients (10%) in stage I, 9 (30%) in stage II, 18 (60%) in stage III. Twenty-two patients had two or more seizure types. EEG patterns get worse deterioration of background activity and decrease epileptiform discharges by clinical stage evolution. Sixteen patients (53%) achieved seizure freedom with antiepileptic drugs at clinical stage III and IV. CONCLUSIONS: EEG features were neither diagnostic nor pathognomonic in epilepsy due to RS. However, EEG patterns and response to treatment changed according to the clinical staging. Therefore, AED therapy should be decided considering the clinical courses of RS.
Anticonvulsants ; Consensus ; Electroencephalography ; Epilepsy ; Freedom ; Humans ; Retrospective Studies ; Rett Syndrome ; Seizures

OBJECTIVE: Rett syndrome (RTT) is a severe progressive neurodevelopmental disorder affecting primarily females by mutations in MECP2 gene. The aim of this study was to compare the pattern of mutations in MECP2 gene in Korean RTT with worldwide reports. METHODS: Six girls clinically diagnosed as RTT from April 2001 to March 2003 were recruited. Diagnosis was made according to the diagnostic criteria recommended by Rett Syndrome Diagnostic Criteria Work Group in 1988. Molecular analysis of MECP2 gene was done and compared with worldwide reports. RESULTS: Three of six RTT had mutations in TRD domain of exon 4 in MECP2 gene. Two of these mutations were nonsense mutaions which were previously reported by others, however, one case was a novel mutation with 44 bp deletion which causes frameshift and premature termination of translation at codon 409. Two single nucleotide polymorphism (SNP) was detected in the exon 1 and exon 4. Since the SNP in exon 1 has not been reported by others, it may be a Korean-specific SNP. Because of the size of cases in this study, the genotype-phenotype relationship could not be assessed. CONCLUSION: The results of this study shows the common types of point mutations as well as a novel type of deletion in MECP2 gene in RTT.
Codon ; Diagnosis ; Exons ; Female ; Humans ; Point Mutation ; Polymorphism, Single Nucleotide ; Rett Syndrome*

Adolescent ; Child ; Child, Preschool ; Electroencephalography ; Female ; Humans ; Infant ; Retrospective Studies ; Rett Syndrome ; pathology ; physiopathology

Biomedical Research ; Child ; Humans ; Methyl-CpG-Binding Protein 2 ; metabolism ; Rett Syndrome

Child, Preschool ; Female ; Humans ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency ; pathology ; Rett Syndrome ; pathology

Mice ; Animals ; Rett Syndrome ; Longevity ; Methyl-CpG-Binding Protein 2 ; Disease Models, Animal ; Phenotype