1.
Clin Dysmorphol
; 14(3): 165-167, 2005 Jul.
Artículo
en Inglés
| MEDLINE
| ID: mdl-15930911
RESUMEN
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.