Abstract
We have found in a four-month-old girl with the cerebrohepatorenal syndrome two abnormalities that may provide insight into the basic nature of the disorder. These are: (1) a profound defect of neuronal migration, and (2) iron storage in ocular structures. This girl had the following neurological findings: no visual responses with normal pupillary reactivity, no auditory responses, no suck, severe hypotonia, no reflexes and multifocal clonic seizures. Pathological findings included diffuse polymicrogyria and pachygyria, severely disordered deeper layers of cerebral cortex, tremendous aggregates of neurons in cerebral white matter, hypoplastic corpus callosum, dysplastic inferior olivary and dentate nuclei, numerous heterotopic Purkinje cells in cerebellar white matter, disordered cerebellar cortex (nodulus) and a dysgenesis of the grey matter of the lumbosacral spinal cord. Myelination was only slightly delayed for age, and spinal roots, peripheral nerves and muscle were normal. These neuropathological findings suggest that the primary genetic defect may involve the programming of neuronal migrational events. Also she had abnormal retinal pigmentation and glaucoma. Electroretinogram showed normal retinal signals but no measurable occipital signals. Her eyes showed reduplication of the pigment epithelium and iron deposits in the corneal epithelium and ciliary body. These unique iron deposits may be due to abnormalities of iron metabolism but not simply to increased serum iron (SI). She never had an elevated SI; 2 weeks before death, her SI was 122 μg%. TIBC 608 μg%.
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Volpe, J., Walton, D., Rogers, M. et al. Neuropathological and ocular changes in the cerebrohepatorenal syndrome. Pediatr Res 5, 373 (1971). https://doi.org/10.1203/00006450-197108000-00010
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DOI: https://doi.org/10.1203/00006450-197108000-00010