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Occurrence of Rett syndrome in boys
H Leonard1, J Silberstein, R Falk
1TVW Telethon Institute for Child Health Research and Centre for Child Health Research, University of Western Australia, Perth, Australia. hleonard@cyllene.uwa.edu.au
Journal of Child Neurology
|June 8, 2001
Summary
Rett syndrome, a neurologic disorder, can affect boys. This study highlights two cases, emphasizing the need for thorough diagnostic evaluation including genetic testing for males with suspected Rett syndrome.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Rett syndrome was historically described exclusively in girls.
- Clinical diagnostic criteria for Rett syndrome have evolved, with head circumference deceleration no longer being mandatory.
- The MECP2 gene is a primary genetic factor associated with Rett syndrome.
Observation:
- Two boys presented with clinical features consistent with Rett syndrome.
- Patient 1 exhibited classic Rett syndrome features with a normal male karyotype (46,XY) and no MECP2 mutation.
- Patient 2 presented with mosaic Klinefelter's syndrome (47,XXY/46,XY) and a T158M missense mutation in the MECP2 gene.
Findings:
- The study identified two distinct presentations of Rett syndrome in boys.
- One patient had a normal karyotype without an MECP2 mutation, suggesting other potential genetic or diagnostic factors.
- The other patient had mosaic Klinefelter's syndrome and an MECP2 mutation, expanding the known genetic spectrum of the disorder in males.
Implications:
- A diagnostic bias may lead to underidentification of Rett syndrome in boys.
- The male phenotype of Rett syndrome might be more common than currently recognized.
- Clinical diagnosis of Rett syndrome in boys warrants comprehensive evaluation, including karyotyping and MECP2 mutation analysis.