Canavan disease: a rare form of leukodystrophy
Küçük Resim Yok
Tarih
2017
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Canavan disease (CD) is a rare autosomal recessive leukodystrophy characterized by spongy degeneration of the white matter of brain. It is characterized by accumulation of N-acetyl aspartic (NAA) acid in mitochondria which inhibits myelin synthesis. Axial hypotonia, ataxia, defects in cognitive functions, defective visual follow and sucking, irritability and macrocephaly are seen in thepatients. Increased high NAA peaks are seen magnetic resonance spectroscopy (MRS). Here we report a case with defective head control and could not sit without support who had no other symptoms before. She had axial hypotonia and bilateral nystagmus on neurological examination. The diagnosis of CD is based on these clinical findings and radiologic evaluations.
Açıklama
Anahtar Kelimeler
Kaynak
İnönü Üniversitesi Turgut Özal Tıp Merkezi Dergisi
WoS Q Değeri
Scopus Q Değeri
Cilt
24
Sayı
3
