Rett syndrome: A classic presentation
| Autor: | Shahnaz Ibrahim, Shamshad Gulab Khan |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
medicine.medical_specialty
Pediatrics medicine.diagnostic_test business.industry media_common.quotation_subject Gross motor skill Rett syndrome Electroencephalography medicine.disease Hypotonia MECP2 Borderline intellectual functioning Neurodevelopmental disorder Pediatrics Perinatology and Child Health medicine Neurology (clinical) Girl medicine.symptom Psychiatry business media_common |
| Zdroj: | Journal of Pediatric Neurology. :191-194 |
| ISSN: | 1875-9041 1304-2580 |
| Popis: | We report a 3-year-old girl with characteristic clinical, electroencephalographic and neuroradiological features of Rett syndrome (RS) - an X-linked dominant, neurodevelopmental disorder caused by mutation in methyl-CpG binding protein 2 (MECP2) gene. It predominantly affects females and is one of the commonest causes of mental retardation in females. It is characterized by progressive loss of intellectual functioning, fine and gross motor skills and communicative abilities, deceleration of head growth, and the development of stereotypic hand movements, occurring after a period of normal development. A 3-year-old girl was brought from our neighboring country with progressive loss of milestones. She had a normal development till one year of age when she gradually lost her motor milestones and started socially withdrawing from her surroundings. She also started excessive hand playing which were stereotypical and repetitive. She was microcephalic and had marked postural hypotonia. Her electroencephalography and magnetic resonance imaging showed the characteristic change associated with RS. These clinical features support the diagnosis of RS even though genetic analysis was not done. This is the first case report of RS from Pakistan. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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