A case of familial Labrune syndrome

In 1996 Labrune et al. reported a new progressive cerebral disorder with "extensive brain calcifications, leukodystrophy and formation of parenchymal cysts" (LCC, Labrune syndrome), described in three unrelated children. A number of authors have reported cases with a variable combination of the features of Coats' disease (retinal teleangiectasia and retinal exudates) and LCC, later termed Coats plus syndrome. Evidence exists to suggest that LCC and Coats Plus represent one clinical entity with a common primary pathogenesis involving a small vessel obliterative microangiopathy, rececently summarized as "Cerebroretinal microangiopathy with calcifications and cysts" (CRMCC). So far, mutations in known genes associated with retinal disorders have not been found in CRMCC or LCC cases.

We present two previously unreported German sisters aged 7 and 12 years with LCC. After a normal early infancy development the girls showed pyramidal and extrapyramidal movement disorders and loss of mental function at the age of one and three years respectively. In one patient, recurrent prolonged febrile seizures occurred. Brain imaging shows the typical multiple cysts, calcifications and leukodystrophy of the LCC phenotype. The familial description of the disease suggests a, to date genetically undefined, hereditary basis. Genetic studies are ongoing.