A case of leukoencephalopathy, cerebral calcifications and cysts

Abstract

Triad of leukoencephalopathy, cerebral calcifications and cysts (LCC) is a recently reported rare disease named 'Labrune syndrome' after the first case was reported in 1996 by Labrune et al. Herein, we report a case of a 36-year-old man with mild right-sided weakness and seizures for 5 years. CT of brain revealed extensive calcification involving bilateral basal ganglia, right thalamus and bilateral deep cerebellar nuclei. A supratentorial cystic lesion with blood fluid level was seen in left occipitotemporal region. MRI examination revealed diffuse symmetric white matter hyperintensity suggesting leukoencephalopathy. On follow-up, patient reported improvement in the weakness and no further seizure episodes. However, follow-up of MRI revealed persistence of lesions. Differential diagnosis considered were parasitic infections (hydatid, cysticercosis), Coat's plus disease and causes of diffuse cerebral calcification like Fahr's disease and post-radiotherapy/chemotherapy. Serology for parasitic infections was negative. No history of radiotherapy or chemotherapy in the past could be elicited in the history. Another close differential is Coat's plus disease which can mimic LCC pathologically.

Keywords: Calcification; cerebral calcifications and cysts; cerebral cysts; labrune syndrome; leukoencephalopathy.

Figure 1

(a, b, c) CT image shows thalamus, basal ganglia and deep cerebellar nuclei calcification and the supratentorial cyst. Note also hypodensity of white matter in B/L frontal region

Figure 2

(a and b) T1-weighted MR image through the basal ganglia shows thalamus and basal ganglia calcification and the cyst with mass effect on the atrium of left lateral ventricle showing blood fluid level (arrow) (c) and coronal (d) T2-weighted MR image shows thalami calcification and the cyst with mass effect. Note T2 hyperintensity in B/L frontal white matter with sparing of corpus callosum (e) T2-weighted MR image shows diffuse symmetric T2 hyperintensity involving bilateral periventricular white matter and centrum semiovale