J Korean Neurosurg Soc.  1979 Sep;8(2):555-564.

A Case of Congenital Binocular Cataracts with Posterior Fossa Cyst Simulating Marinesco-Sjogren Syndrome

• Kang SK
• Han SJ
• Park Y

Abstract

A case of 10 months old Korean female infant with congenital binocular cataracts, posterior fossa cyst, and macrodactyly simulating Marinesco-Sjogren Syndrome is presented. The diagnosis of the posterior fossa cyst was added by brain computerized tomogram, conray ventriculogram and vertebral angiogram. The studies demonstrated marked hydrocephalus with a huge posterior fossa cyst displacing 4 th ventricle and cerebellum anteriorly. The cyst was also extending upward displacing the tentorium superiorly. Following ventriculoperioneal shunt an exploration of the cyst was performed. The cerebellar hemispheres and vermis were appeared to be atrophic and displaced anteriorly due to the cyst. The histologic study of the biopsied cyst wall was normal arachnoid membrane. The authors assume that some of the reported cases of Marinesco- sjogren Syndrome could have similar cystic lesion which was found in this case to cause cerebellar ataxia and mental retardation.

MeSH Terms

Arachnoid
Brain
Cataract*
Cerebellar Ataxia
Cerebellum
Diagnosis
Female
Humans
Hydrocephalus
Infant
Intellectual Disability
Membranes
Sjogren's Syndrome
Spinocerebellar Degenerations*
Telescopes*