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.
