Stroke Note Published online: April 30, 2013 Cerebrovasc Dis 2013;35:396–397 DOI: 10.1159/000348312 Garrett P. Banksa, Shennan A. Weissa, David Pisapiab, Joshua Z. Willeya Departments of a Neurology and b Pathology, Columbia University College of Physicians and Surgeons, New York, N.Y., USA Introduction In 1996, Labrune et al. [1] described a clinical entity in 3 children with multiple calcifications in deep gray structures, leukoencephalopathy, and parenchymal cysts on neuroimaging. Brain biopsy demonstrated irregular calcified small arteries. Subsequently more than 10 adult patients with identical neuroradiological features have been reported [2–10]. While some patients demonstrate pathological findings similar to the childhood form of the syndrome, others exhibit thickened, hyalinized large blood vessels and surrounding gliosis [10]. Clinically, these patients have diverse findings ranging from subtle deficits to chronic seizures and dystonia. Several of these patients have presented with intracerebral hemorrhage (ICH) [3, 6, 8]. Case Report A 71-year-old woman with a past history of hypertension, prior ischemic stroke with mild residual left hemiparesis 6 years prior and poorly differentiated ovarian carcinoma in remission for 18 years presented with subacute worsening left hemiparesis and headache for 3 weeks. On admission, the patient was hypertensive (159/78 mm Hg), mildly confused, and presented with left hemineglect and spastic left hemiparesis. Neuroradiological studies are displayed in figure 1. Computed tomography showed a 26-cm3 right frontoparietal ICH with surrounding edema throughout the right hemisphere and a 1-cm midline shift. Calcifications in the cerebellum and basal ganglia, as well as extensive white matter hypodensities were noted both on admission as well as 6 years prior. Magnetic resonance imaging (MRI) demonstrated increased fluid-attenuated inversion recovery both surrounding the hemorrhage with contrast enhancement and in the bilateral periventricular white matter hyperintensities. T2 images showed increased intensity, consistent with cysts, posterior to the left frontal horn and in the left cerebellum. All of © 2013 S. Karger AG, Basel 1015–9770/13/0354–0396$38.00/0 E-Mail karger@karger.com www.karger.com/ced Discussion The patient presented with an initial clinical presentation and imaging concerning for a hemorrhagic brain tumor, with brain biopsy and positron emission tomography demonstrating no evidence of malignancy. The patient’s imaging was notable for white matter disease, cystic changes, and subcortical calcifications, all evident 6 years before her ICH. These neuroradiological findings have been previously described in adults and children and are collectively termed Labrune syndrome. The underlying cause of Labrune syndrome is unknown. Genes linked to deep white matter hyperintensity, such as CST3 (cysteine protease inhibitor cystatin C), are candidates [9]. The patient’s hemorrhage and white matter disease could normally be ascribed to aggressive atherosclerosis or cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, however neither etiology is associated with cystic changes or calcifications. Labrune syndrome is a rare disorder that can present with a hemorrhagic brain lesion and should be considered in the differential diagnosis after more common etiologies have been ruled out [10]. The genetic basis of Labrune’s disease is unclear. References 1 Labrune P, Lacroix C, Goutieres F, Laveaucoupet J, Chevalier P, Zerah M, Husson B, Landrieu P: Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy. Neurology 1996;46:1297–1301. 2 Osman NI, Lorincz MT, Hulsing KL, Gebarski SS: Leukoencephalopathy, cerebral calcifications, and cysts: case report. Clin Neurol Neurosurg 2012;114:806–809. 3 Corboy JR, Gault J, Kleinschmidt-DeMasters BK: An adult case of leukoencephalopathy with intracranial calcifications and cysts. Neurology 2006;67:1890–1892. 4 Kaffenberger T, Valko PO, von Meyenburg J, Barath K, Hewer E, Heppner FL, Jagella CE, Horst A, Siccoli MM: A case of late onset leukoencephalopathy with cerebral calcifications and cysts in a 59-year-old woman. Eur J Neurol 2009;16:278–281. Shennan Weiss Department of Neurology, Columbia University 710 West 168th Street New York, NY 10032 (USA) E-Mail saw2164 @ columbia.edu Downloaded from http://karger.com/ced/article-pdf/35/4/396/2350812/000348312.pdf by guest on 12 April 2024 A Case of Late-Onset Leukoencephalopathy, Calcifications, and Cysts Presenting with Intracerebral Hemorrhage Resembling a Neoplasm these findings, except for the hemorrhagic mass, were seen 6 years prior on an MRI scan performed for left-sided weakness. In 2006, MR spectroscopy of the right leukoencephalic region demonstrated a reduced N-acetyl aspartate/choline ratio, but no lactate peak. Cerebral angiography showed normal arterial and venous phases. The patient underwent a right hemicraniectomy and eventual resection of the hemorrhagic mass. Biopsy was notable for gliosis and thickened blood vessels, but no amyloid deposition or malignancy. A follow-up MRI demonstrated resolution of the hemorrhage and surrounding edema. Complete body positron emission tomography demonstrated no regions of hypermetabolism. 6 years prior 5 months thereafter a b Fig. 1. a Axial fluid-attenuated inversion recovery images demon- strate bilateral asymmetric periventricular white matter hyperintensities prior to presentation. b Axial T2-weighted images demonstrate a cystic mass posterior to the left frontal horn. c Axial c d T1-weighted post-gadolinium MR shows gadolinium enhancement of the hemorrhagic region at presentation. d Axial computed tomography images show stable basal ganglion calcifications and ICH at presentation. 5 Wargon I, Lacour MC, Adams D, Denier C: A small deep infarct revealing leukoencephalopathy, calcifications and cysts in an adult patient. J Neurol Neurosurg Psychiatry 2008;79:224–225. 6 Gulati A, Singh P, Ramanathan S, Khandelwal N: A case of leukoencephalopathy, cerebral calcifications and cysts. Ann Indian Acad Neurol 2011;14:310–312. 7 Berry-Candelario J, Kasper E, Eskandar E, Chen CC: Neurosurgical management of leukoencephalopathy, cerebral calcifications, and cysts: a case report and review of literature. Surg Neurol Int 2011;2:160. 8 Bertotti MM, Linhares MN, Ferreira R, Santos DS, Athayde AT, Mussi AC, Moritz JW, Jung TS, Schroeder HK, Rodrigues IK: Leukoencephalopathy, cerebral calcifications, and cysts: entity that can mimic a neoplasm. Arq Neuropsiquiatr 2011;69:717–722. 9 Mitaki S, Nagai A, Sheikh AM, Terashima M, Isomura M, Nabika T, et al: Contribution of cystatin C gene polymorphisms to cerebral white matter lesions. Cerebrovasc Dis 2011;32:489–496. 10 Kleinschmidt-DeMasters BK, Cummings TJ, Hulette CM, Morgenlander JC, Corboy JR: Adult cases of leukoencephalopathy, cerebral calcifications, and cysts: expanding the spectrum of the disorder. J Neuropathol Exp Neurol 2009;68:432–439. Labrune Syndrome Cerebrovasc Dis 2013;35:396–397 DOI: 10.1159/000348312 397 Downloaded from http://karger.com/ced/article-pdf/35/4/396/2350812/000348312.pdf by guest on 12 April 2024 Hospitalization