Labrune syndrome


Labrune syndrome consists of:

  1. extensive white matter signal changes - suggestive of leukoencephalopathy
  2. clustered cystic lesions in bi-frontal cerebral hemispheres with wall calcifications
  3. 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.