Yayın: Progressive cerebroretinal microangiopathy with calcifications and cysts syndrome: An unusual cause of complex partial seizure
Dosyalar
Tarih
Kurum Yazarları
Seferoğlu, Meral
Hakyemez, Bahattin
Bora, İbrahim
Parlak, Müfit
Yazarlar
Dusak, Abdurrahim
Danışman
Dil
Türü
Yayıncı:
Wiley
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Özet
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.
Açıklama
Kaynak:
Anahtar Kelimeler:
Konusu
Neurosciences & neurology, Psychiatry, Cerebral calcifications, Leukoencephalopathy
Alıntı
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.