Abstract
We report a patient with a unique combination of clinical findings: XY sex reversal, spastic paraplegia, mental retardation, dysmorphism, and infantile-onset olivopontocerebellar hypoplasia. The phenotype of our patient did not coincide with any of the described forms of XY reversal syndromes, hereditary or sporadic spastic paraplegias, or congenital or infantile-onset cerebellar or olivopontocerebellar atrophies or hypoplasias. The disorder of this patient likely represents a genetic condition with pleiotropic effects on brain development and sex determination and adds further evidence for the heterogeneity of spastic paraplegia/infantile olivopontocerebellar hypoplasia syndromes and sex reversal syndromes. Copyright (C) 2000 Elsevier Science Inc.
Original language | English |
---|---|
Pages (from-to) | 357-360 |
Number of pages | 4 |
Journal | Pediatric Neurology |
Volume | 23 |
Issue number | 4 |
DOIs | |
State | Published - 2000 |