Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia.
BACKGROUND
Congenital fibrosis of the extraocular muscles (CFEOM) is a rare condition that has been traditionally regarded as a primary eye muscle disease. Recent studies, however, suggest that CFEOM may be the result of a primary neuropathy with secondary myopathic changes.


OBJECTIVE
To describe a previously unrecognized association between congenital fibrosis of the extraocular muscles and structural abnormalities of the brain.


METHODS
Small case series.


METHODS
Detailed clinical examinations and neuroradiologic studies were performed on the three affected family members. In addition, genetic analysis of the family was performed.


RESULTS
The three affected family members, mother and two children, have the ocular features of 'classic' congenital fibrosis of the extraocular muscles. All showed dilation of the left lateral ventricle secondary to hypoplasia of the body and tail of the ipsilateral caudate nucleus. There was fusion of an enlarged caudate nucleus head with the underlying putamen. Both children showed widespread bilateral cortical dysplasia. Genetic analysis of the family was inconclusive but consistent with linkage to the CFEOM1 locus on chromosome 12. Chromosomal analysis of the affected individuals did not show evidence of a deletion of chromosome 12 and haplotype analysis was not suggestive of a microdeletion.


CONCLUSIONS
Cerebral cortical and basal ganglia maldevelopment can be found in individuals with CFEOM. This suggests that neuroimaging should be considered in the initial diagnostic evaluation of these patients, particularly if there is developmental delay.
Flaherty
M P
MP
Department of Ophthalmology, New Children's Hospital, Westmead, Sydney, Australia.
Grattan-Smith
P
P
Steinberg
A
A
Jamieson
R
R
Engle
E C
EC
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D001479:Basal Ganglia / Q000002:abnormalities*; D001763:Blepharoptosis / Q000151:congenital / Q000175:diagnosis / Q000235:genetics; D002540:Cerebral Cortex / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics; D005133:Eye Movements; D005260:Female; D005355:Fibrosis; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D008279:Magnetic Resonance Imaging; D009801:Oculomotor Muscles / Q000002:abnormalities / Q000473:pathology*; D009886:Ophthalmoplegia / Q000151:congenital / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree