Colobomas of the iris and choroid and high signal intensity cerebral foci on T2-weighted magnetic resonance images in Klinefelter's syndrome

Melanie Barbara Boettger; Klaus Kirchhof; Consolato Sergi; Christiane Sakmann; Peter Meyer

doi:10.3928/0191-3913-20040701-17

Colobomas of the iris and choroid and high signal intensity cerebral foci on T2-weighted magnetic resonance images in Klinefelter's syndrome

J Pediatr Ophthalmol Strabismus. 2004 Jul-Aug;41(4):247-8. doi: 10.3928/0191-3913-20040701-17.

Authors

Melanie Barbara Boettger¹, Klaus Kirchhof, Consolato Sergi, Christiane Sakmann, Peter Meyer

Affiliation

¹ Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.

PMID: 15305539
DOI: 10.3928/0191-3913-20040701-17

Abstract

A 5-year-old boy presented with ocular anomalies including microphthalmos, colobomas of the iris, choroid, and optic nerve head, and strabismus. Magnetic resonance imaging of the head showed multiple bilateral asymmetric high signal intensity foci in the subcortical and periventricular white matter. Genetic counseling disclosed a 47,XXY karyotype.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple*
Brain / pathology*
Child, Preschool
Choroid / abnormalities*
Coloboma / diagnosis*
Humans
Iris / abnormalities*
Klinefelter Syndrome / diagnosis*
Magnetic Resonance Imaging*
Male
Microphthalmos / diagnosis
Optic Disk / abnormalities