BibTex RIS Kaynak Göster

Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia

Yıl 2015, Cilt: 42 Sayı: 4, - , 08.01.2016

Osman Yeşilbaş Hasan Kıhtır Melike Ersoy Hamd Yıldırım Müge Sungur Esra Şevketoğlu

https://doi.org/10.5798/diclemedj.0921.2015.04.0625
https://izlik.org/JA26GT97HA

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

peroksizomal hastalık hipotoni ağır beyin disgenezisi

Kaynakça

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  • Abe Y, Honsho M, Nakanishi H, et al. Very-long-chain polyunsaturated fatty acids accumulate in phosphatidylcholine
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  • protein deficiency: three adults diagnosed by wholeexome sequencing. Neurology 2014;82:963-968.
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Toplam 13 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
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

Gönderilme Tarihi 8 Ocak 2016
Yayımlanma Tarihi 8 Ocak 2016
DOI https://doi.org/10.5798/diclemedj.0921.2015.04.0625
IZ https://izlik.org/JA26GT97HA
Yayımlandığı Sayı Yıl 2015 Cilt: 42 Sayı: 4

Kaynak Göster

APA Yeşilbaş, O., Kıhtır, H., Ersoy, M., Yıldırım, H., Sungur, M., & Şevketoğlu, E. (2016). Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia. Dicle Medical Journal, 42(4). https://doi.org/10.5798/diclemedj.0921.2015.04.0625
AMA 1.Yeşilbaş O, Kıhtır H, Ersoy M, Yıldırım H, Sungur M, Şevketoğlu E. Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia. diclemedj. 2016;42(4). doi:10.5798/diclemedj.0921.2015.04.0625
Chicago Yeşilbaş, Osman, Hasan Kıhtır, Melike Ersoy, Hamd Yıldırım, Müge Sungur, ve Esra Şevketoğlu. 2016. “Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia”. Dicle Medical Journal 42 (4). https://doi.org/10.5798/diclemedj.0921.2015.04.0625.
EndNote Yeşilbaş O, Kıhtır H, Ersoy M, Yıldırım H, Sungur M, Şevketoğlu E (01 Ocak 2016) Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia. Dicle Medical Journal 42 4
IEEE [1]O. Yeşilbaş, H. Kıhtır, M. Ersoy, H. Yıldırım, M. Sungur, ve E. Şevketoğlu, “Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia”, diclemedj, c. 42, sy 4, Oca. 2016, doi: 10.5798/diclemedj.0921.2015.04.0625.
ISNAD Yeşilbaş, Osman - Kıhtır, Hasan - Ersoy, Melike - Yıldırım, Hamd - Sungur, Müge - Şevketoğlu, Esra. “Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia”. Dicle Medical Journal 42/4 (01 Ocak 2016). https://doi.org/10.5798/diclemedj.0921.2015.04.0625.
JAMA 1.Yeşilbaş O, Kıhtır H, Ersoy M, Yıldırım H, Sungur M, Şevketoğlu E. Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia. diclemedj. 2016;42. doi:10.5798/diclemedj.0921.2015.04.0625.
MLA Yeşilbaş, Osman, vd. “Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia”. Dicle Medical Journal, c. 42, sy 4, Ocak 2016, doi:10.5798/diclemedj.0921.2015.04.0625.
Vancouver 1.Osman Yeşilbaş, Hasan Kıhtır, Melike Ersoy, Hamd Yıldırım, Müge Sungur, Esra Şevketoğlu. Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia. diclemedj. 01 Ocak 2016;42(4). doi:10.5798/diclemedj.0921.2015.04.0625

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