Scopus
Infantile-onset megalencephalic leucoencephalopathy in two siblings
Journal of Paediatrics and Child Health · Aralık 2000
Makale Bilgileri
DergiJournal of Paediatrics and Child Health
Yayın TarihiAralık 2000
Cilt / Sayfa36 · 598-602
Scopus ID2-s2.0-0033659599
Özet
Infantile-onset megalencephalic leucoencephalopathy (IML) is a recently recognized autosomal recessive white matter disorder. Unlike other megalencephalic leucoencephalopathies, in patients with IML a mild clinical course, a slowly progressive delay in motor development and mild mental deterioration are typical. We report on two affected siblings who have typical clinical and radiological findings of IML. Cranial magnetic resonance imaging showed involvement of the capsula externa, extrema and interna, nucleus dentatus, crus cerebri, periventricular and subcortical white matter. In addition, bilateral cystic changes were determined predominantly in the temporal lobes. There were no clear biochemical or metabolic disturbances. In the present paper, we discuss the clinical and neuroimaging findings of IML.
Yazarlar (6)
1
Hanifi Soylu
2
A. Yüksel
3
N. O. Kutlu
4
M. Aydinli
5
M. Seven
6
H. Mocan
Anahtar Kelimeler
Infancy
Leucoencephalopathy
Megalencephaly
Kurumlar
Istanbul Üniversitesi
Istanbul Turkey
Tomoçek Imaging Center
Malatya Turkey
Turgut Ozal Medical Center
Malatya Turkey
VKV Amerikan Hastanesi
Istanbul Turkey
Metrikler
2
Atıf
6
Yazar
3
Anahtar Kelime