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Published online before print August 30, 2006, doi:10.1212/01.wnl.0000236999.63933.b0)
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NEUROLOGY 2006;67:1437-1443
© 2006 American Academy of Neurology

Cerebroretinal microangiopathy with calcifications and cysts

T. Linnankivi, MD, L. Valanne, MD, PhD, A. Paetau, MD, PhD, I. Alafuzoff, MD, PhD, J. M. Hakumäki, MD, PhD, T. Kivelä, MD, T. Lönnqvist, MD, PhD, O. Mäkitie, MD, PhD, L. Pääkkönen, MD, L. Vainionpää, MD, PhD, R. Vanninen, MD, PhD, R. Herva, MD, PhD and H. Pihko, MD, PhD

From the Departments of Pediatric Neurology (T.L., T.L., H.P.) and Pediatrics (O.M.), Hospital for Children and Adolescents, and Helsinki Medical Imaging Center (L.V.) and Departments of Pathology (A.P.) and Ophthalmology (T.K.), Helsinki University Central Hospital, University of Helsinki, Departments of Pathology (I.A.), Clinical Radiology (J.M.H., R.V.), and Pediatric Neurology (L.P.), Kuopio University Hospital, A.I. Virtanen Institute for Molecular Sciences (J.M.H.), University of Kuopio, and Departments of Pediatrics (L.V.) and Pathology (R.H.), University of Oulu, Finland.

Address correspondence and reprint requests to Dr. T. Linnankivi, Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Stenbäckinkatu 11, FIN-00290 Helsinki, Finland; e-mail: tarja.linnankivi{at}kolumbus.fi

Background: 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.

Methods: 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.

Results: 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 skeletal and hematologic abnormalities, intestinal bleeding, and poor growth. Neuropathologic examination showed extensive calcinosis and abnormal small vessels with thickened, hyalinized wall and reduced lumen.

Conclusions: Our data suggest that Coats plus syndrome and leukoencephalopathy with calcifications and cysts belong to the same spectrum. The primary abnormality seems to be an obliterative cerebral angiopathy involving small vessels, leading to dystrophic calcifications via slow necrosis and finally to formation of cysts and secondary white matter abnormalities.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the October 24 issue to find the title link for this article.

This article was previously published in electronic format as an Expedited E-Pub on August 30, 2006, at www.neurology.org.

Supported by the Foundation for Pediatric Research, Finland.

Disclosure: The authors report no conflicts of interest.

Received February 10, 2006. Accepted in final form June 16, 2006.




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