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Loss of balance while walking, tremors, slurring of speech and slowing of movements for three years.
Cystic lesions involving bilateral frontal deep white matter with surrounding edema and areas of calcification.
Chunky areas of calcification seen in bilateral basal ganglia, thalami and dentate nuclei.
Large, heterogeneous clustered cystic lesions in the left frontal white matter with significant peri-lesional edema. The lesions are hyperintense on T2W images and hypointense on T1W images with no suppression on FLAIR. There are foci of small T2 hypointensities, few of them are eccentrically located within the cysts and few within the intervening region. Post contrast study shows heterogeneous peripheral rim enhancement. The perilesional edema is seen to extend into the subcortical white matter and along the internal and external capsules. Mild mass effect is seen on the adjacent lateral ventricle and basal ganglia causing midline shift to the right side. Diffusion restriction is seen in the periphery of the cysts. SWI shows areas of blooming suggestive of calcifications.
Smaller, clustered cystic lesions with similar morphology and perilesional edema are seen in the right frontal white matter. Post contrast study shows nodular enhancement along the postero-superior aspect.
Areas of T2 hypointensities with surrounding long TR hyperintensity in the right capsuloganglionic region, left thalamus and bilateral cerebellar hemispheres involving the dentate nuclei. These show intense blooming on SWI. Mild volume loss in the right capsuloganglionic region causing minimal exvacuo dilatation of the right lateral ventricle with resultant Wallerian degeneration along the right corticospinal tract.
Labrune syndrome consists of:
- extensive white matter signal changes - suggestive of leukoencephalopathy
- clustered cystic lesions in bi-frontal cerebral hemispheres with wall calcifications
- extensive cerebral calcifications involving the right capsuloganglionic region, left thalamus and bilateral dentate nuclei
In view of the above classical triad of findings (LCC- leukoencephalopathy with cerebral calcifications and cysts), differentials considered were (a) Labrune syndrome and (b) Coats plus syndrome. Parasitic disease and tumors were considered less likely.
The patient underwent an ophthalmological evaluation to rule out retinal telangiectasia, which was normal. Hence, Coats plus syndrome was ruled out.
Stereotactic biopsy from the left frontal lobe showed nervous tissue with microcystic change, reactive astrocytosis, focal microcalcification, congestion, perivascular hyalinisation and focal perivascular chronic inflammation. No evidence of definite vasculitis or granulomatous inflammation. Special stains for fungal organisms were negative.
Due to financial constraints on the family, a SNORD118 mutation analysis could not be performed.
Case contributed by Dr Carl Prem Trevor Colaco, Dr Anitha Jasper & Dr Sunithi Mani.
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