Abstract
The authors present the case of a 5 years old child, who was diagnosed 3 years ago with Marinesco-Sjogren Syndrome, consisting of: congenital cataracts, secondary convergent strabismus, cerebellar ataxia, retarded somatic and mental maturation. The little girl was operated for cataracts and in the future of strabismus. Girl's brother has the same syndrome. There are presented pathogenetic elements an visual and neurological prognostic factors.
Publication types
-
Case Reports
-
English Abstract
MeSH terms
-
Abnormalities, Multiple / diagnosis
-
Abnormalities, Multiple / genetics*
-
Cataract / congenital
-
Cataract / diagnosis
-
Cataract / genetics*
-
Cataract / therapy
-
Cataract Extraction
-
Cerebellar Ataxia / diagnosis
-
Cerebellar Ataxia / genetics*
-
Child, Preschool
-
Chromosomes, Human, Pair 5*
-
Diagnosis, Differential
-
Esotropia / congenital
-
Esotropia / diagnosis
-
Esotropia / genetics*
-
Esotropia / surgery
-
Female
-
Humans
-
Intellectual Disability / genetics
-
Karyotyping
-
Prognosis
-
Siblings
-
Syndrome
-
Treatment Outcome