Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome
| Autor: | S. Merchant, L. R. Campbell, Philip F. Giampietro, T. Swink, B. B. Roa, D. B. Schowalter |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
medicine.medical_specialty
Pediatrics Microcephaly Ataxia Methyl-CpG-Binding Protein 2 Genetic counseling medicine.medical_treatment Rett syndrome Ketone Bodies Polymorphism Single Nucleotide MECP2 Diet Carbohydrate-Restricted Seizures Cerebellum Rett Syndrome medicine Humans Atypical Rett syndrome Child Encephalocele business.industry Infant Ketosis General Medicine medicine.disease Arnold-Chiari Malformation Child Preschool Mutation Pediatrics Perinatology and Child Health Physical therapy Female Neurology (clinical) Neurosurgery medicine.symptom business Ketogenic diet |
| Zdroj: | Child's Nervous System. 22:320-324 |
| ISSN: | 1433-0350 0256-7040 |
| DOI: | 10.1007/s00381-005-1155-z |
| Popis: | We describe a female patient with Arnold Chiari type I malformation, atypical Rett syndrome characterized by postnatal onset microcephaly, stereotypic hand movements, ataxia, severe developmental delay, intractable tonic–clonic seizures, and a MECP2 mutation with a unique set of clinical findings. Implementation of a ketogenic diet resulted in decreased seizure activity and an improvement in the patient’s degree of social relatedness with her family members. An early diagnosis of Rett syndrome allows families to maximize utilization of existing treatment modalities and seek appropriate genetic counseling and prenatal diagnoses. This case also provides further evidence for the treatment benefit of ketogenic diets for seizures in patients with Rett syndrome. |
| Databáze: | OpenAIRE |
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