Zellweger syndrome : a case is diagnosed in neonatal period

Volume: 48 Number: 3 September 1, 2009
  • Kuşkaya M
  • Ras A
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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.

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Primary Language

Turkish

Subjects

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Journal Section

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Authors

Kuşkaya M

Ras A

Publication Date

September 1, 2009

Submission Date

September 1, 2009

Acceptance Date

-

Published in Issue

Year 2009 Volume: 48 Number: 3

IZ

https://izlik.org/JA55HM53CK

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RIS / Bibtex
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1.Kuşkaya M, Ras A. Zellweger sendromu: yenidoğan döneminde tanı konulan olgu sunumu. EJM [Internet]. 2009 Sep. 1;48(3):203-7. Available from: https://izlik.org/JA55HM53CK

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