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Dergiler / Dicle Tıp Dergisi / 2015 / Cilt: 42 Sayı: 4

Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia

Osman Yeşilbaş
Hasan Kıhtır
Melike Ersoy
Hamd Yıldırım
Müge Sungur
Esra Şevketoğlu
Sayfa
—
Yayın Tarihi
2016-01-08
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Key words: Peroxisomal disorder, hypotonia, severe cerebral dysgenesis

📌 3 Maddede Bu Makale

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Amaç & Hipotez: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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Temel Bulgular & Veri: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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Sonuç & Katkı:Key words: Peroxisomal disorder, hypotonia, severe cerebral dysgenesis
🔬Tür:Makale
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler: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

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Bu Makaleye Atıf Yap

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

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Kaynakça (13)

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