title: Pons tumour behind a phenotypic Rett syndrome presentation.
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.
authors.affiliation: Hospital for Children and Adolescents, Helsinki, Finland.
authors.forename: R
authors.initials: R
authors.lastname: Vanhala
authors.forename: E
authors.initials: E
authors.lastname: Gaily
authors.forename: A
authors.initials: A
authors.lastname: Paetau
authors.forename: R
authors.initials: R
authors.lastname: Riikonen
mesh_terms: D001932:Brain Neoplasms / Q000175:diagnosis* / Q000473:pathology; D002658:Developmental Disabilities / Q000209:etiology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D011149:Pons / Q000473:pathology*; D015518:Rett Syndrome / Q000175:diagnosis* / Q000473:pathology; D014057:Tomography, X-Ray Computed