Sep 1, 2006

Cerebroretinal microangiopathy with calcifications and cysts

Neurology
Tarja LinnankiviHelena Pihko

Abstract

Extensive cerebral calcifications and leukoencephalopathy have been reported in two rare disorders Coats plus and leukoencephalopathy with calcifications and cysts. In the latter, a progressive formation of parenchymal brain cysts is a special feature, whereas Coats plus is characterized by intrauterine growth retardation, bilateral retinal telangiectasias and exudations (Coats disease), sparse hair, and dysplastic nails without cyst formation. We identified 13 patients, including two pairs of siblings, with extensive cerebral calcifications and leukoencephalopathy. We reviewed clinical, ophthalmologic, radiologic and neuropathologic data of seven deceased patients and studied five patients prospectively. Eleven patients were small for gestational age; the other symptoms emerged from infancy to adolescence. All patients had neurologic symptoms including seizures, spasticity, dystonia, ataxia, and cognitive decline. Progressive intracerebral calcifications involved deep gray nuclei, brainstem, cerebral and cerebellar white matter, and dentate nuclei and were accompanied by diffuse white matter signal changes and, in five patients, cerebral cysts. Eleven patients had retinal telangiectasias or angiomas. Additional features were s...Continue Reading

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Mentioned in this Paper

Necrosis
Hematology (Discipline)
Neurologic Manifestations
Calcinosis
Entire Brainstem
Small for Gestational Age
Leukoencephalopathy, Progressive Multifocal
Cerebrovascular Occlusion
Cerebral Amyloid Angiopathy
Entire Lumen of Body System

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