Zellweger sendromu ve hipertrofik kardiyomiyopati birlikteliği
Küçük Resim Yok
Tarih
2012
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Zellweger sendromu, peroksizom eksikliği veya yokluğuna bağlınörolojik sistem, iskelet sistemi, karaciğer, böbrek ve göze ait anomalilerin izlendiği nadir görülen bir sendromdur. Serebrohepatorenal sendrom olarak da adlandırılan hastalık otozomal resesif olarak kalıtılır. Hastalık, büyüme geriliği, hipotoni, erken dönem beyin gelişiminde ciddi problemler, yüksek alın, oküler hipertelorizm, deforme kulak gibi yüz anomalileri ve hepatomegali ile karakterizedir. Peroksizomlardaki eksiklik kanda çok uzun zincirli yağasitlerinde artışa ve eritrositlerde plazmolojenlerin azalmasına yol açar. Zellweger sendromunda çok çeşitli konjenital kalp hastalıkları da görülebilmektedir. Makalemizde daha önce literatürde bildirilmemişolan hipertrofik kardiyomiyopatinin tespit edildiği 3 aylık Zellweger sendromlu bir kız vaka sunulmuştur.
Zellweger syndrome is a rare, congenital disorder characterized by the anomalies of neurologic system, skeletal system, liver, kidney and eye due to lack or absence of peroxisomes in the cells. Also it is called as cerebrohepatorenal syndrome and inherited by autosomal recessive. Characteristic symptoms of the disease include growth reterdation; hypotonia, serious problems in brain development; facial deformities such as a high forehead, ocular hypertelorism and deformed ear lobes and hepatomegaly. A decrease in the number of peroxsisomes causes an increase in fatty acids with very long chains in the blood and a decrease in plasmologenes in the erythrocytes. Many congenital cardiac diseases can be detected in Zellweger syndrome. In the present report, a 3-month old girl with Zellweger syndrome who was diagnosed as hypertrophic cardiomyopathy, not mentioned in the literature beforehand, was reported.
Zellweger syndrome is a rare, congenital disorder characterized by the anomalies of neurologic system, skeletal system, liver, kidney and eye due to lack or absence of peroxisomes in the cells. Also it is called as cerebrohepatorenal syndrome and inherited by autosomal recessive. Characteristic symptoms of the disease include growth reterdation; hypotonia, serious problems in brain development; facial deformities such as a high forehead, ocular hypertelorism and deformed ear lobes and hepatomegaly. A decrease in the number of peroxsisomes causes an increase in fatty acids with very long chains in the blood and a decrease in plasmologenes in the erythrocytes. Many congenital cardiac diseases can be detected in Zellweger syndrome. In the present report, a 3-month old girl with Zellweger syndrome who was diagnosed as hypertrophic cardiomyopathy, not mentioned in the literature beforehand, was reported.
Açıklama
Anahtar Kelimeler
Genel ve Dahili Tıp
Kaynak
Pamukkale Tıp Dergisi
WoS Q Değeri
Scopus Q Değeri
Cilt
5
Sayı
1
