Pons tumour behind a phenotypic Rett syndrome presentation

We describe a girl with a brain-stem tumour and symptoms very similar to th ose 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 characteristi c 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 redon of the pe ns and hydrocephalus, We suggest that a pons/midbrain tumour appearing at a n early age may affect the developing CNS and cause symptoms similar to tho se of RS. A possible causal connection between midbrain pathology and RS is supported by this case.