XY sex reversal and a nonprogressive neurologic disorder: A new syndrome?

A. H.M. Mahbubul Huq, Michael A. Nigro

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8 Scopus citations

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 languageEnglish
Pages (from-to)357-360
Number of pages4
JournalPediatric Neurology
Volume23
Issue number4
DOIs
StatePublished - 2000

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