XY sex reversal and a nonprogressive neurologic disorder: a new syndrome?
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.
Mahbubul Huq
A H
AH
Division of Neurology, Children's Hospital of Michigan, Wayne State University, Detroit, Michigan 48201, USA.
Nigro
M A
MA
D001921:Brain / Q000002:abnormalities*; D002648:Child; D012734:Disorders of Sex Development; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D010264:Paraplegia / Q000175:diagnosis / Q000235:genetics*