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

Abstract

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.

Cerebello-oculo-renal syndromes including Arima, Senior-L�ken and COACH syndromes: More than just variants of Joubert syndrome

“…The kidney abnormalities were almost always severe. Although previous reports have generally described the renal abnormality as "polycystic kidneys," the few detailed pathological descriptions are clearly more compatible with CDK [Dekaban, 1969;Ivasrsson et al, 1993;Matsuzaka et al, 1986]. Liver fibrosis was documented in 4 of 21 patients in this group.…”

“…The pathological abnormalities were interpreted as consistent with "tapetoretinal degeneration" [Dekaban, 1969;Ivarsson et al, 1993;. Abnormalities of the kidneys were consistent with CDK, including hypoplasia and dysplasia of cortex and medulla, persistent fetal lobulations, and cysts of variable but often large size throughout the cortex and medulla [Dekaban, 1969;Ivarsson et al, 1993;Kudo et al, 1985;Matsuzaka et al, 1986]. When patients with early death (or last exam at age 2 weeks) are excluded, all patients with CVH and CDK also had retinopathy.…”

“…The changes in the brain were most extensive in the posterior fossa, including hypoplasia, dysplasia, and sometimes gliosis of numerous brainstem nuclei and tracts, possible predilection for midline structures, hypoplasia of the corticospinal tracts associated with dispersal of fibers to abnormal locations, severe vermis hypoplasia and dysplasia, and dysplasia and heterotopia of the deep cerebellar nuclei especially the dentate nuclei Goldston et al, 1963;Ivarsson et al, 1993, Kudo et al, 1985Matsuzaka et al, 1986]. Overall, these changes seem similar to those previously described in Joubert syndrome [Calogero, 1977;Friede and Boltshauser, 1978;Harmant-van Rijckevorsel et al, 1983;Joubert et al, 1969].…”

“…1985; Kumar and Rankin, 1996;Lewis et al, 1994;Matsuzaka et al, 1986;Thompson and Baraitser, 1986;Verloes and Lambotte, 1989;Weisner et al, 1992].…”

New autosomal-recessive syndrome of leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis

“…Dekaban [1969] reported on 2 sibs with LCA, polycystic kidneys, and brain malformation of autosomal-recessive inheritance as a new syndrome. Arima et al [1971] and Koya et al [1973] reported on patients with LCA, severe psychomotor retardation, agenesis of the cerebellar vermis, and blepharoptosis [see also Kawaguchi et al, 1984;Matsuzaka et al, 1986]. Senior et al [1961] reported on 4 sibs with LCA and nephropathy.…”