Caudothalamic groove cysts in Zellweger syndrome
Clinical Dysmorphology, cilt.14, sa.3, ss.165-167, 2005 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 14 Sayı: 3
- Basım Tarihi: 2005
- Doi Numarası: 10.1097/00019605-200507000-00014
- Dergi Adı: Clinical Dysmorphology
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.165-167
- Anahtar Kelimeler: Caudothalamic groove cysts, Magnetic resonance, Zellweger syndrome
- Sağlık Bilimleri Üniversitesi Adresli: Hayır
Özet
The cerebro-hepato-renal syndrome of Zellweger is the most severe peroxisome biogenesis disorder. Zellweger syndrome is caused by a disturbance in the peroxisomal protein import machinery and leads to multiple organ defects and death usually within the first year of life. Here we report a 3-month-old girl with Zellweger syndrome who was found to have cysts in the caudothalamic groove on cranial magnetic resonance imaging. © 2005 Lippincott Williams & Wilkins.