Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia
Abstract
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
Keywords
References
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Details
Primary Language
Turkish
Subjects
-
Journal Section
-
Authors
Osman Yeşilbaş
This is me
Hasan Kıhtır
This is me
Melike Ersoy
This is me
Hamd Yıldırım
This is me
Müge Sungur
This is me
Esra Şevketoğlu
This is me
Publication Date
January 8, 2016
Submission Date
January 8, 2016
Acceptance Date
-
Published in Issue
Year 2015 Volume: 42 Number: 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