Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia
Öz
Very long chain fatty acids accumulate in many tissues and organs in the peroxisomal disorders due to defects in fatty acid metabolism. Although the disease may be manifested as severe symptoms causing early death due to hypotonia, poor feeding, respiratory problems, cerebral dysgenesis, liver and kidney dysfunctions, it may be presented as late onset with mild symptoms. We presented a 4 months-old male infant with peroxisomal disorder diagnosed by dysmorphic facial appearance, hypotonia since birth, feeding difficulties, respiratory distress, severe cerebral dysgenesis and increased very long chain fatty acids due to its rarity.
Key words: Peroxisomal disorder, hypotonia, severe cerebral dysgenesis
Anahtar Kelimeler
Kaynakça
- Barry DS, O’Keeffe GW. Peroxisomes: the neuropathological
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Ayrıntılar
Birincil Dil
Türkçe
Konular
-
Bölüm
-
Yazarlar
Osman Yeşilbaş
Bu kişi benim
Hasan Kıhtır
Bu kişi benim
Melike Ersoy
Bu kişi benim
Hamd Yıldırım
Bu kişi benim
Müge Sungur
Bu kişi benim
Esra Şevketoğlu
Bu kişi benim
Yayımlanma Tarihi
8 Ocak 2016
Gönderilme Tarihi
8 Ocak 2016
Kabul Tarihi
-
Yayımlandığı Sayı
Yıl 2015 Cilt: 42 Sayı: 4
Cited By
Hemşirelik Modeli ve Sınıflama Sistemlerinin Kullanıldığı Hemşirelik Bakımı: Konjenital Hipotoni Olgu Sunumu
Sakarya Üniversitesi Holistik Sağlık Dergisi
https://doi.org/10.54803/sauhsd.1259064