Siblings with cystic leukoencephalopathy and megalencephaly
JOURNAL OF CHILD NEUROLOGY, cilt.15, sa.10, ss.690-693, 2000 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 15 Sayı: 10
- Basım Tarihi: 2000
- Doi Numarası: 10.1177/088307380001501010
- Dergi Adı: JOURNAL OF CHILD NEUROLOGY
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.690-693
- İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet
Özet
Cystic leukoencephalopathy with megalencephaly is a newly described entity with mild clinical involvement. Patients suffer from developmental problems and seizures in childhood. Progression is gradual into adulthood. Typical magnetic resonance imaging findings include subcortical cysts and diffuse leukoencephalopathy. The etiology is unknown with possibly autosomal-recessive inheritance. We present two pairs of siblings with this disease and emphasize the characteristic and variable patterns even within the same family.