Key words: Peroxisomal disorder, hypotonia, severe cerebral dysgenesis
📌 3 Key Takeaways
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Objective & Hypothesis:Very long chain fatty acids accumulate in many tissues and organs in the peroxisomal disorders due to defects in fatty acid metabolism.
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Key Findings & Data: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.
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Conclusion & Impact:Key words: Peroxisomal disorder, hypotonia, severe cerebral dysgenesis
🔬Design:Makale
📍Scope:Comprehensive Sample
⚙️Variables:peroksizomal hastalık · hipotoni · ağır beyin disgenezisi
Özet
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
Yeşilbaş, O., Kıhtır, H., Ersoy, M., Yıldırım, H., Sungur, M., Şevketoğlu, E. (2016). Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia. Dicle Tıp Dergisi, Cilt: 42 Sayı: 4. https://doi.org/10.5798/diclemedj.0921.2015.04.0625