LCC or Labrune syndrome syndrome MRI
Leukoencephalopathy, brain calcifications, and cysts (LCC) also known as Labrune syndrome, an extremely rare with only near 10 cases reported so far in the medical literature.
The condition is caused by homozygous or compound heterozygous mutations in the SNORD118 gene on chromosome 17p13. Clinical presentation varies from spasticity, dystonia, seizures, and cognitive decline.
Etiopathogenesis of LCC is still a matter of debate. Obliterative microangiopathy has been found on histopathological examination as the basic abnormality, the cyst formation is due to necrotic process secondary to obliterative microangiopathy and calcifications is dystrophic in nature. White matter changes result from changes in water content rather than abnormality of myelination.
Another entity which deserves a special mention is cerebro retinal microangiopathy with calcifications and cysts is a distinct genetic disorder due to CTC1 gene problem. Similar leukoencephalopathy, cysts, and calcification have been reported in few cases in association with Coat's disease, described as “Coat's plus. Coat's disease is unilateral retinal telangiectasia with exudation commonly occurring in boys sporadically without systemic features. However, in Coat's plus, there is bilateral retinal telangiectasia with exudation along with systemic features in the form of LCC.
In my case patient did not have any visual issues so that rules out retinal abnormality and the possibility of cerebro retinal microangiopathy.
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