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- Title
Pons tumour behind a phenotypic Rett syndrome presentation.
- Authors
Vanhala, R.; Gaily, E.; Paetau, A.; Riikonen, R.
- Abstract
We describe a girl with a brain-stem tumour and symptoms very similar to those of Rett syndrome (RS). Her early history was uneventful and development was normal (except for hypotonia). At the age of 6 months her development slowed. Subsequently, deterioration occurred and the features characteristic of RS were seen: loss of purposeful hand use, stereotypic hand movements, impaired social contact, decelerated head growth, and ataxia. Cerebral CT at the age of 3 years and 4 months revealed a tumour in the region of the pons and hydrocephalus. We suggest that a pons/midbrain tumour appearing at an early age may affect the developing CNS and cause symptoms similar to those of RS. A possible causal connection between midbrain pathology and RS is supported by this case.
- Publication
Developmental Medicine & Child Neurology, 1998, Vol 40, Issue 12, p836
- ISSN
0012-1622
- Publication type
journal article
- DOI
10.1111/j.1469-8749.1998.tb12361.x