2006 Volume 48 Issue 8 Pages 731-735
We report a long-term survival case of Arima syndrome requiring hemodialysis. The patient, now 25 years of age, was hypotonic at birth. She was diagnosed with Dandy-Walker syndrome at an early month of age when she underwent posterior cranial fossa cystectomy and vermian agenesis was confirmed. With some delay in psychomotor development, she showed the development of language comprehension and meaningful speech and started to walk without aid at the age of 7 years. Polycystic kidneys were found at 11 years, and Arima syndrome was diagnosed at 16 years when she presented herself to our hospital with rupture of esophageal varices. With progressive deterioration of renal function, she was placed on chronic hemodialysis at 23 years. She presented short stature, right blepharoptosis and telecanthus on physical examination; pancytopenia, liver dysfunction and renal failure on laboratory studies; agenesis of cerebellar vermis on magnetic resonance imaging; reduced amplitude of electroretinographic response, and retinal pigmentary changes under funduscopy. Hemodialysis was initiated uneventfully except that nafamostat mesilate was used as anticoagulant because of her bleeding tendency.
Arima syndrome, also known as cerebro-oculo-hepato-renal syndrome, is a disorder characterized by cerebellar vermin aplasia and other clinical features such as profound psychomotor retardation, severe visual impairment, characteristic facial appearance with blepharoptosis, hepatic fibrosis and progressive renal insufficiency. The clinical findings of our patient were consistent with Arima syndrome though her psychomotor retardation and visual impairment were relatively moderate as compared with those previously reported. As most patients with Arima syndrome may die of uremia in their early teens, dialysis therapy should be considered to improve the patient's survival and quality of life depending on the severity of psychomotor retardation and other systemic disorders.
