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 vermis 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.