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Cerebro-Oculo-Hepato-Renal Syndrome (Arima's Syndrome): A Distinct Clinocopathological Entity

Department of Child Neurology, National Musashi Institute for Mental and Nervous Disorders

Norio Sakuragawa, MD

Department of Child Neurology, National Musashi Institute for Mental and Nervous Disorders

Hiroshi Nakayama, MD

Department of Psychiatry National Musashi Institute for Mental and Nervous Disorders, Kodaira City, Tokyo

Kenji Sugai, MD

Department of Child Neurology, National Musashi Institute for Mental and Nervous Disorders

Yoshiyasu Kohno, MD

Division of Pediatrics Center of Children's Developmental Medicine and Education, Kitakyushu, Japan

Masataka Arima, MD

Department of Child Neurology, National Musashi Institute for Mental and Nervous Disorders

Three children with Leber's congenital amaurosis, agenesis of the cerebellar vermis, and infantile polycystic kidneys are described. The common clinical findings of three unrelated patients (two boys and one girl) included severe visual impairment from early infancy, profound psychomotor retardation, hypotonia, nystagmus, characteristic facial appearance with blepharoptosis, and progressive chronic renal insufficiency. The two boys died of uremia at ages 13 and 12 years. The common pathological findings in these two patients consisted of minor disproportions of cerebral lobes, almost total aplasia of the cerebellar vermis, micropolygyria of the dentate nuclei, malformations of the brain stem (including pachygyria of the inferior olivary nuclei and partial absence and anomalous position of the pyramidal tracts), and infantile polycystic kidneys; there was fatty liver in one case and hepatic fibrosis in the other. The clinicopathological findings of our two patients were entirely compatible with those of patients previously reported by Arima and other Japanese authors. Therefore, these patients seem to comprise a distinct clinicopathological entity, cerebro-oculo-hepato-renal syndrome (Arima's syndrome), different from other syndromes with retinal, cerebellar, and renal abnormalities. (J Child Neurol 1986;1:338-346)

Journal of Child Neurology, Vol. 1, No. 4, 338-346 (1986)
DOI: 10.1177/088307388600100404


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