Leukoencephalopathy, cerebral calcifications, and cysts – a separate entity

Objective: Recently a few patients with leukoencephalopathy, brain calcifications, and cysts (LCC) were described. We report a further patient.

Methods: Case report and review of corresponding literature.

Case report: This girl is the only child of healthy parents. Familial and prenatal history were uneventful. Motor milestones were reached as expected, but dysharmonic gait and frequent falls were noted in infancy. In kindergarten she was found to be clumsy in groß and fine motor tasks and slower compared to peers. In view of mild cognitive impairment she attended a small class with remedial teaching. Neurological examination at the age of 10 years revealed mild truncal ataxia, and dysmetric-dystonic hand movements. Ocular fundi were normal. At 13 years the situation was unchanged. Cranial CT at 10 and 13 years were equal, with coarse calcification involving basal ganglia, frontal white matter, and centrum semiovale with predominantly subcortical distribution. MRI showed extensive T2w hyperintensity of cerebral white matter, sparing U-fibres. There was one large and several small parenchymal cysts in periventricular supratentorial location. MRA was normal. Extensive investigations for metabolic and infectious causes were normal. The overall course was not progressive so far. Seizures did not occur.

Conclusion: The clinical findings and the neuroimaging in this child differ from Aicardi-Goutiéres syndrome, 'Coats plus' and other defined diseases with brain calcification, but resemble LC. However, there are notable differences regarding the non-progressive course and the cyst location. Further reports are required to judge whether LCC represents a separate entity.