Cerebroretinal microangiopathy with calcifications and cysts

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Coats plus and leukoencephalopathy with calcifications and cysts are rare disorders with overlapping symptoms.
• Coats plus involves intrauterine growth retardation and retinal abnormalities; LCC involves brain cysts.
• Distinguishing these conditions is crucial for accurate diagnosis and management.

Purpose of the Study:

• To investigate the relationship between Coats plus syndrome and leukoencephalopathy with calcifications and cysts.
• To delineate the clinical, radiologic, and neuropathologic features of these disorders.
• To identify the underlying pathophysiology.

Main Methods:

• Retrospective review of clinical, ophthalmologic, radiologic, and neuropathologic data from 13 patients.
• Prospective study of five patients.
• Analysis of medical histories and diagnostic findings.

Main Results:

• Eleven patients exhibited intrauterine growth retardation; symptoms appeared from infancy to adolescence.
• All patients presented with neurological deficits, including seizures, spasticity, and cognitive decline.
• Progressive cerebral calcifications, white matter changes, and cerebral cysts were observed; retinal telangiectasias were common.

Conclusions:

• Coats plus syndrome and leukoencephalopathy with calcifications and cysts represent a single disease spectrum.
• The primary issue is an obliterative cerebral angiopathy affecting small vessels.
• This leads to calcifications, necrosis, cyst formation, and white matter abnormalities.