Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline ... Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996). See also cerebroretinal microangiopathy with calcifications and cysts (CRMCC; 612199), an autosomal recessive disorder caused by mutation in the CTC1 gene (613129) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012).
Labrune et al. (1996) reported 3 unrelated children with progressive calcifications in the cerebrum and cerebellum and leukodystrophy on MRI. The changes were noted between early infancy and adolescence. Clinical features included slowing of cognition, seizures, and a ... Labrune et al. (1996) reported 3 unrelated children with progressive calcifications in the cerebrum and cerebellum and leukodystrophy on MRI. The changes were noted between early infancy and adolescence. Clinical features included slowing of cognition, seizures, and a movement disorder with pyramidal, extrapyramidal, and cerebellar features. Two patients became wheelchair-bound. All developed parenchymal cysts in the cerebellum or supratentorial regions. Brain biopsy of 1 patient showed angiomatous changes consisting of numerous small tortuous blood vessels with calcifications, irregular Rosenthal fibers, and hyaline deposits. Retinal abnormalities were not reported. Labrune et al. (1996) postulated a diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration.
Anderson et al. (2012) excluded mutations in the CTC1 gene in 21 families with Labrune syndrome. Polvi et al. (2012) also excluded mutations in the CTC1 gene in 2 probands with cerebral calcifications, ... - Exclusion Studies Anderson et al. (2012) excluded mutations in the CTC1 gene in 21 families with Labrune syndrome. Polvi et al. (2012) also excluded mutations in the CTC1 gene in 2 probands with cerebral calcifications, leukoencephalopathy, and brain cysts without systemic manifestations. These studies suggested that Labrune syndrome is not allelic to CRMCC.