Zellweger sendromu: yenidoğan döneminde tanı konulan olgu sunumu

Cilt: 48 Sayı: 3 1 Eylül 2009
  • Kuşkaya M
  • Ras A
Ege Tıp Dergisi Kapak
Ege Tıp Dergisi
PDF İndir
EN TR

Zellweger syndrome : a case is diagnosed in neonatal period

Abstract

Zellweger syndrome or Cerebrohepatorenal Syndrome is a rare, congenital (present at birth) disorder characterized by the reduction or absence of peroxisomes in the cells of the liver, kidneys, and brain. Inheritance is autosomal recessive. Characteristic symptoms of the disease are include an enlarged liver; facial deformities such as a high forehead, underdeveloped eyebrow ridges, and deformed ear lobes; and neurological abnormalities, such as mental retardation and seizures. Infants with Zellweger syndrome also lack muscle tone, sometimes to the point of being unable to move, and may not be able to suck or swallow. These patients have increased very long chains fatty acids (VLCFA) in blood and decreased plasmalogens in red blood cells. The prognosis for infants with Zellweger syndrome is poor. Most infants do not survive past the first 6 months, and usually succumb to respiratory distress, gastrointestinal bleeding, or liver failure. Here, we report rare a case who is diagnosed in neonatal period.

Keywords

Ayrıntılar

Birincil Dil

Türkçe

Konular

-

Bölüm

-

Yazarlar

Kuşkaya M

Ras A

Yayımlanma Tarihi

1 Eylül 2009

Gönderilme Tarihi

1 Eylül 2009

Kabul Tarihi

-

Yayımlandığı Sayı

Yıl 2009 Cilt: 48 Sayı: 3

IZ

https://izlik.org/JA55HM53CK

Kaynak Göster

RIS / Bibtex
Vancouver
1.Kuşkaya M, Ras A. Zellweger sendromu: yenidoğan döneminde tanı konulan olgu sunumu. ETD [Internet]. 01 Eylül 2009;48(3):203-7. Erişim adresi: https://izlik.org/JA55HM53CK

Ege Tıp Dergisi, makalelerin Atıf-Gayri Ticari-Aynı Lisansla Paylaş 4.0 Uluslararası (CC BY-NC-SA 4.0) lisansına uygun bir şekilde paylaşılmasına izin verir.