Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia

Authors : Osman YEŞİLBAŞ, Hasan KIHTIR, Melike ERSOY, Hamd YILDIRIM, Müge SUNGUR, Esra ŞEVKETOĞLU

Pages : 0-0

Doi:10.5798/diclemedj.0921.2015.04.0625

View : 16 | Download : 6

Publication Date : 2016-01-08

Article Type : Research Paper

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 : peroksizomal hastalık, hipotoni, ağır beyin disgenezisi