Labrune Syndrome: A Very Rare Association of Leukoencephalopathy, Cerebral Calcifications, and Cysts

Abstract

Leukoencephalopathy, cerebral calcifications, and cysts (LCC) form a very rare association which is named as “Labrune syndrome” after Labrune who reported the first case in 1996. To the best of our knowledge only eight to 10 cases have been reported in literature to date. We report a case of a 26-year-old male with onset of neurological symptoms in late adolescence (at 19 years of age) and presented with complains of continued seizures for 7 years, giddiness with imbalance, and slowly progressive motor symptoms. MRI brain revealed multiple calcifications in bilateral basal ganglia, cerebral white matter, multiple cystic lesions in the supratentorial white matter, and abnormal diffused bilateral white matter T2 hyperintensity suggesting leukoencephalopathy. Histopathological evaluation revealed prominent congested blood vessels suggestive of angiomatous changes and cystic areas suggestive of secondary gliosis.

Keywords

Labrune syndrome - leukoencephalopathy - cerebral calcifications - cysts

• References

• 1 Labrune P, Lacroix C, Goutières F. et al. Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy. Neurology 1996; 46 (05) 1297-1301
• 2 Nagae-Poetscher LM, Bibat G, Philippart M. et al. Leukoencephalopathy, cerebral calcifications, and cysts: new observations. Neurology 2004; 62 (07) 1206-1209
• 3 Ben-Zeev B, Gross V, Kushnir T. et al. Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients. J Child Neurol 2001; 16 (02) 93-99
• 4 Pridmore CL, Baraitser M, Harding B, Boyd SG, Kendall B, Brett EM. Alexander's disease: clues to diagnosis. J Child Neurol 1993; 8 (02) 134-144
• 5 Lohle PN, van Mameren H, Zwinderman KH, Teepen HL, Go KG, Wilmink JT. On the pathogenesis of brain tumour cysts: a volumetric study of tumour, oedema and cyst. Neuroradiology 2000; 42 (09) 639-642
• 6 Turkulov V, Madle-Samardzija N, Canak G, Vukadinov J, Aleksić-Dordević M. Clinical and diagnostic approaches to neurocysticercosis. Med Pregl 2001; 54 (7-8): 353-356
• 7 Caldemeyer KS, Mathews VP, Edwards-Brown MK, Smith RR. Central nervous system cryptococcosis: parenchymal calcification and large gelatinous pseudocysts. AJNR Am J Neuroradiol 1997; 18 (01) 107-109
• 8 Corboy JR, Gault J, Kleinschmidt-DeMasters BK. An adult case of leukoencephalopathy with intracranial calcifications and cysts. Neurology 2006; 67 (10) 1890-1892
• 9 Briggs TA, Abdel-Salam GM, Balicki M. et al. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet A 2008; 146A [phone]