📂 Diseases
cystic leukoencephalopathy without megalencephaly — Definition
Megalensefalisiz kistik lökodistrofi / cystic leukoencephalopathy without megalencephaly
characterized by cystic degeneration in white ore, but a rare neurodegenerative disease that does not appear abnormal growth (megalensefali) in the brain volume. It often manifests itself with motor and cognitive backrest, spastisite and seizures during childhood. In magnetic resonance imaging (MRG) multipl cystic lesions are monitored in white ore. The disease occurs as a result of disruption in the construction or care of miyelin depending on genetic mutations.
Disease Definition
🔬 Disease Definition
Megalensefali olmaksızın kistik lökodistrofi, beyaz cevherde kistik dejenerasyon ile karakterize, nadir görülen bir nörodejeneratif hastalıktır.
🧬 Causes & Risk Factors
Genetik mutasyonlar (örneğin, RNASET2 geni) ile ilişkilidir; otozomal resesif kalıtım gösterir.
🩺 Symptoms & Signs
Gelişimsel gecikme, spastisite, ataksi, nöbetler, optik atrofi, motor ve bilişsel bozukluklar.
📋 Diagnostic Methods
Beyin MRG'de simetrik, multipl kistik lezyonlar ve beyaz cevher anormallikleri; genetik test ile doğrulama.
💊 Treatment Options
Semptomatik tedavi (antiepileptikler, fizik tedavi); spesifik bir tedavisi yoktur.
⚠️ Complications
İlerleyici nörolojik kayıp, solunum problemleri, yutma güçlüğü, enfeksiyon riski.
Frequently Asked Questions
❓ What is Megalensefalisiz kistik lökodistrofi?
Megalensefalisiz kistik lökodistrofi; characterized by cystic degeneration in white ore, but a rare neurodegenerative disease that does not appear abnormal growth (megalensefali) in the brain volume. It often manifests itself with motor and cognitive backrest, spastisite and seizures during childhood. In magnetic resonance imaging (MRG) multipl cystic lesions are monitored in white ore. The disease occurs as a result of disruption in the construction or care of miyelin depending on genetic mutations.
❓ What is cystic leukoencephalopathy without megalencephaly in Turkish?
The Turkish equivalent of "cystic leukoencephalopathy without megalencephaly" is Megalensefalisiz kistik lökodistrofi.
❓ Which medical field is Megalensefalisiz kistik lökodistrofi related to?
This term belongs to the Diseases category.