Publication: Progressive cerebroretinal microangiopathy with calcifications and cysts syndrome: An unusual cause of complex partial seizure
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Authors
Seferoğlu, Meral
Hakyemez, Bahattin
Bora, İbrahim
Parlak, Müfit
Authors
Dusak, Abdurrahim
Advisor
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Wiley
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Abstract
Syndrome is characterized by cerebral calcification andcyst formation (CRMCC), as defined in recent years,1and isdescribed in the published reports as Coats plus syndrome,Labrune syndrome and leukoencephalopathy calcification andcysts (LCC) syndrome.2Cerebral, ophthalmic, skeletal, intesti-nal involvement can be seen. CRMCC determined in lateadolescence is limited. Autosomal recessive inheritance isreported.3In the majority of patients, neurological findingsshowing progression have been reported, such as spasticity,dystonia, ataxia and loss of cognitive abilities. Imaging find-ings with laboratory data should support the diagnosis.
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Keywords
Neurosciences & neurology, Psychiatry, Cerebral calcifications, Leukoencephalopathy
Citation
Dusak, A. vd. (2012). "Progressive cerebroretinal microangiopathy with calcifications and cysts syndrome: An unusual cause of complex partial seizure". Psychiatry and Clinical Neurosciences, 66(5), 460-460.