Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia

Osman YEŞİLBAŞ; Hasan KIHTIR; Melike ERSOY; Hamd YILDIRIM; Müge SUNGUR; Esra ŞEVKETOĞLU

Article Details

Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia

Authors:

Osman YEŞİLBAŞ | Hasan KIHTIR | Melike ERSOY | Hamd YILDIRIM | Müge SUNGUR | Esra ŞEVKETOĞLU

Publisher:

Dicle University

Journal:

Dicle Medical Journal 2015 Vol.42 Issue 4

Document Type:

Article

Publication Date:

1/2016

Document Language:

Turkish

Document ID (Org No.):

2000947181

Frequency:

Quarterly

eISSN:

1308-9889

pISSN:

1300-2945

Keywords:

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

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Article Details

Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia

Authors:

Osman YEŞİLBAŞ | Hasan KIHTIR | Melike ERSOY | Hamd YILDIRIM | Müge SUNGUR | Esra ŞEVKETOĞLU

Publisher:

Dicle University

Journal:

Dicle Medical Journal 2015 Vol.42 Issue 4

Document Type:

Article

Publication Date:

1/2016

Document Language:

Turkish

Document ID (Org No.):

2000947181

Frequency:

Quarterly

eISSN:

1308-9889

pISSN:

1300-2945

peroksizomal hastalık

hipotoni

ağır beyin disgenezisi

Issues

Article Details

Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia

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

Publisher: Dicle University

Journal: Dicle Medical Journal 2015 Vol.42 Issue 4

Document Type: Article

Publication Date: 1/2016

Document Language: Turkish

Document ID (Org No.): 2000947181

Frequency: Quarterly

eISSN: 1308-9889

pISSN: 1300-2945

peroksizomal hastalık

hipotoni

ağır beyin disgenezisi

Issues

Authors:

Osman YEŞİLBAŞ | Hasan KIHTIR | Melike ERSOY | Hamd YILDIRIM | Müge SUNGUR | Esra ŞEVKETOĞLU

Publisher:

Dicle University

Journal:

Dicle Medical Journal 2015 Vol.42 Issue 4

Document Type:

Article

Publication Date:

1/2016

Document Language:

Turkish

Document ID (Org No.):

2000947181

Frequency:

Quarterly

eISSN:

1308-9889

pISSN:

1300-2945