Infantile-onset megalencephalic leucoencephalopathy in two siblings
Küçük Resim Yok
Tarih
2000
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Blackwell Science Asia
Erişim Hakkı
info:eu-repo/semantics/closedAccess
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, cnrs 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.
Açıklama
Anahtar Kelimeler
infancy, leucoencephalopathy, megalencephaly
Kaynak
Journal of Paediatrics and Child Health
WoS Q Değeri
Q3
Scopus Q Değeri
Q2
Cilt
36
Sayı
6
