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Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia

Year 2015, Volume: 42 Issue: 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
Cited By: 1

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

References

  • Barry DS, O’Keeffe GW. Peroxisomes: the neuropathological
  • consequences of peroxisomal dysfunction in the developing brain. Int Biochem Cell Biol 2013;45:2012-2015.
  • Aubourg P, Wanders R. Peroxisomal disorders. Handb Clin
  • Neurol 2013;113:1593-1609.
  • Lee PR, Raymond GV. Child neurology: Zellweger syndrome.
  • Neurology 2013;80:207-210.
  • Abe Y, Honsho M, Nakanishi H, et al. Very-long-chain polyunsaturated fatty acids accumulate in phosphatidylcholine
  • of fibroblasts from patients with Zellweger syndrome and acyl-CoA oxidase1 deficiency. Biochim Biophys Acta 2014;1841:610-619.
  • Lines MA, Jobling R, Brady L, et al. Peroxisomal D-bifunctional
  • protein deficiency: three adults diagnosed by wholeexome sequencing. Neurology 2014;82:963-968.
  • Barkovich AJ, Peck WW. MR of Zellweger syndrome. AJNR Am J Neuroradiol 1997;18:1163-1170.
  • Weller S, Rosewich H, Gärtner J. Cerebral MRI as a valuable
  • diagnostic tool in Zellweger spectrum patients. J Inherit Metab Dis 2008;31:270-280.

Year 2015, Volume: 42 Issue: 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
Cited By: 1

Abstract

References

  • Barry DS, O’Keeffe GW. Peroxisomes: the neuropathological
  • consequences of peroxisomal dysfunction in the developing brain. Int Biochem Cell Biol 2013;45:2012-2015.
  • Aubourg P, Wanders R. Peroxisomal disorders. Handb Clin
  • Neurol 2013;113:1593-1609.
  • Lee PR, Raymond GV. Child neurology: Zellweger syndrome.
  • Neurology 2013;80:207-210.
  • Abe Y, Honsho M, Nakanishi H, et al. Very-long-chain polyunsaturated fatty acids accumulate in phosphatidylcholine
  • of fibroblasts from patients with Zellweger syndrome and acyl-CoA oxidase1 deficiency. Biochim Biophys Acta 2014;1841:610-619.
  • Lines MA, Jobling R, Brady L, et al. Peroxisomal D-bifunctional
  • protein deficiency: three adults diagnosed by wholeexome sequencing. Neurology 2014;82:963-968.
  • Barkovich AJ, Peck WW. MR of Zellweger syndrome. AJNR Am J Neuroradiol 1997;18:1163-1170.
  • Weller S, Rosewich H, Gärtner J. Cerebral MRI as a valuable
  • diagnostic tool in Zellweger spectrum patients. J Inherit Metab Dis 2008;31:270-280.
There are 13 citations in total.

Details

Primary Language Turkish
Journal Section Research Articles
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
Published in Issue Year 2015 Volume: 42 Issue: 4

Cite

APA Yeşilbaş, O., Kıhtır, H., Ersoy, M., Yıldırım, H., et al. (2016). Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia. Dicle Tıp Dergisi, 42(4). https://doi.org/10.5798/diclemedj.0921.2015.04.0625
AMA Yeşilbaş O, Kıhtır H, Ersoy M, Yıldırım H, Sungur M, Şevketoğlu E. Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia. diclemedj. January 2016;42(4). doi:10.5798/diclemedj.0921.2015.04.0625
Chicago Yeşilbaş, Osman, Hasan Kıhtır, Melike Ersoy, Hamd Yıldırım, Müge Sungur, and Esra Şevketoğlu. “Peroxisomal Disorder Characterized With Severe Cerebral Dysgenesis and Hypotonia”. Dicle Tıp Dergisi 42, no. 4 (January 2016). https://doi.org/10.5798/diclemedj.0921.2015.04.0625.
EndNote Yeşilbaş O, Kıhtır H, Ersoy M, Yıldırım H, Sungur M, Şevketoğlu E (January 1, 2016) Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia. Dicle Tıp Dergisi 42 4
IEEE O. Yeşilbaş, H. Kıhtır, M. Ersoy, H. Yıldırım, M. Sungur, and E. Şevketoğlu, “Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia”, diclemedj, vol. 42, no. 4, 2016, doi: 10.5798/diclemedj.0921.2015.04.0625.
ISNAD Yeşilbaş, Osman et al. “Peroxisomal Disorder Characterized With Severe Cerebral Dysgenesis and Hypotonia”. Dicle Tıp Dergisi 42/4 (January 2016). https://doi.org/10.5798/diclemedj.0921.2015.04.0625.
JAMA 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 et al. “Peroxisomal Disorder Characterized With Severe Cerebral Dysgenesis and Hypotonia”. Dicle Tıp Dergisi, vol. 42, no. 4, 2016, doi:10.5798/diclemedj.0921.2015.04.0625.
Vancouver 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).

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