Leukoencephalopathy with cerebral calcifications and cyst: Labrune syndrome
Leucoencefalopatia com cistos e calcificações cerebrais: síndrome de Labrune
André Luiz Santos PessoaI; Amanda do Vale MonteiroII; Rafael Fonseca de QueirozII; George Linard MalveiraIII; Fernando KokIV
IProfessor da Faculdade de Medicina da Universidade de Fortaleza, UNIFOR, Fortaleza CE; Médico Neurologista Infantil do Hospital Estadual Albert Sabin, SESA-CE; Médico Colaborador do grupo de neurogenética do Centro de Estudos do Genoma Humano, ICB-USP, São Paulo SP, Brazil
IIAcadêmico de Medicina da UNIFOR, Fortaleza CE, Brazil
IIINeurologista do Hospital Geral de Fortaleza- HGF-SESA-CE, Fortaleza CE, Brazil
IVProfessor Livre-Docente do Departamento de Neurologia da Faculdade de Medicina da Universidade de São Paulo, FMUSP, São Paulo SP, Brazil
The association of leukoencephalopathy with cerebral calcifications and cysts (LCC), Labrune syndrome is a rare disease, which was first described in 19961. LCC is derived from the syndrome called COATS plus or cerebroretinal microangiopathy with calcifications and brain cysts (CRMCC), reported in 1988. We report a case of an adult patient with LCC.
Patient, male, 31 years-old, son of non-consanguineous parents, and no perinatal complications, he presents a history of tonic-clonic seizures for seven years. Previously healthy, he sought assistance after the first seizure, showing no changes in neurological examination in post-crisis. The patient had complete blood count, renal and hepatic function, glucose, electrolytes, serology for HIV and toxoplasma gondii negative. Electrocardiogram and cardiac enzymes were normal. In that occasion, the computed tomography (CT) scan showed a bilateral calcification located in the basal ganglia (Fig C). Brain magnetic resonance imaging (MRI) showed extensive area of leukodistrophia and cysts in both hemispheres, the largest measuring 6.7 versus 4.8 cm, with marginal enhancement after intravenous contrast. The repeated MRI showed progression of the lesions (Fig A and B)
In the same month, the largest brain cyst was surgically removed, and the histopathological examination of the cyst showed foci of dystrophic calcifications and focal accumulations of macrophages xanthomized. There were no signs of malignancy in the sample. The patient evolved with partial control of seizures using carbamazepine 1,800 mg/day and he also performed five surgeries to remove brain cysts. Now, the patient is currently with neurological examination demonstrating cognitive syndrome characterized by a transcortical motor aphasia; pyramidal syndrome characterized by incomplete hemiparesis on the right hemibody. Myotatic exalted reflexes in the right hemibody and plantar-cutaneous reflex were indifferent.
Reviewing the relevant literature worldwide, Labrune syndrome was considered as a possible diagnosis for the present case2. Despite the presence of cysts, calcification, and edema of the white substance found in our patient, suggesting neurocysticercosis, equinecocosis3 or neoplasia, there was no serologic or histopathologic confirmation.
This syndrome is characterized by calcifications, leukodystrophy, and formation of parenchymal cysts1. Its onset can occur during childhood or adolescence, in an average of 12 years (7 months 59 years), but there was not one in adults in Brazil, with neurological signs such as cognitive decline, seizures and pyramidal, extrapyramidal or cerebellar signs1,2. Our patient, unlike the other cases reported in literature, presented its first neurological manifestation at the age of 24. CT and MRI seen in our case were similar to the cases reported in literature, showing increased signal intensity of the white matter on MRI (T2 and FLAIR), basal ganglia calcification, and development of cysts1-3.
Labrune reported the results of histopathology with rearrangement involving the microvessels, whereas perivascular foci of calcifications, hyaline deposits, and formation of Rosenthal fibers seem to be compatible with this change1. The histopathological findings of our patient were consistent with LCC. According to them, the likely primary pathologic feature is a rearrangement involving the microvessels and the formation of Rosenthal fibers1,4.
In conclusion, the etiology of LCC remains unknown. In spite of relatively characteristic findings in imaging and histopathological examination, there is no uniformity in the clinical findings noted in the published articles. It can be speculated that the later age of onset, normal intelligence and slow progression, like in our patient, may indicate the shape of this rare disease in adults.
Received in 23 August 2011;
Received in final form 26 October 2011;
Accepted 01 November 2011
Conflict of interest:
There is no conflict of interest to declare.
- 1. Labrune P, Lacroix C, Goutieres F, et al. Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy. Neurology 1996;46:1297-1301.
- 2. Nagae-Poetscher LM, Bibat G, Philippart M, et al. Leukoencephalopathy, cerebral calcifications and cysts: new observations. Neurology 2004;62:1206-1209.
- 3. Sener U, Zorlu Y, Men S, Bayol U, Zanapalioglu U. Leukoencephalopathy, cerebral calcifications, and cysts. Am J Neuroradiology 2006; 27:200-203.
- 4. Briggs TA, Abdel-Salam GMH, Balicki M, et al. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet 2008;146:182-190.
Publication in this collection
01 Mar 2012
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