Abstract
IntroductionLeukoencephalopathy, brain calcifications and cysts, known as Labrune syndrome, is a rare syndrome. The etiology is unknown; in some cases it is difficult to differentiate from Coats plus syndrome and diagnosed as cerebroretinal microangiopathy with calcifications and cysts. We present the case of a patient with adult leukoencephalopathy, brain calcifications and cysts and discuss recently described entities in view of the relevant literature.Case presentationA previously healthy 19-year-old Chinese man presented with weakness of his right limbs that rapidly worsened over a short interval. Computed tomography and magnetic resonance imaging showed numerous low-density cysts, calcifications, and abnormal signal change of white matter. A visual field examination showed irregular visual field defects in both eyes. A neuro-ophthalmologic examination did not find evidence of Coats retinopathy. A larger excisional biopsy was carried out and a diagnosis of leukoencephalopathy, brain calcifications and cysts was confirmed.ConclusionsWe present an example of adult-onset leukoencephalopathy, brain calcifications and cysts and have expanded the clinical spectrum of features associated with this syndrome. Previous reports have not, to the best of our knowledge, previously reported visual field defects. Based on the latest findings, we believe that leukoencephalopathy, brain calcifications and cysts and Coats plus syndrome are genetically distinct entities.
Highlights
Leukoencephalopathy, brain calcifications and cysts, known as Labrune syndrome, is a rare syndrome
We present an example of adult-onset leukoencephalopathy, brain calcifications and cysts and have expanded the clinical spectrum of features associated with this syndrome
Leukoencephalopathy, brain calcifications and cysts (LCC), known as Labrune syndrome, is a rare syndrome characterized by extensive brain calcifications, leukodystrophy and the formation of parenchymal cysts
Summary
This is an example of adult-onset LCC and expands the clinical spectrum of features of LCC. Consent Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal. Competing interests The authors declare that they have no competing interest. Authors’ contributions YW analyzed and interpreted the patient data. GC was a major contributor in writing the manuscript. CD obtained and analyzed the patient data. JZ was a major contributor in interpreting the data and manuscript revision. All authors read and approved the final manuscript. Author details 1Department of Neurosurgery, PLA Navy General Hospital, Fuchenglu Road 6#, Haidian District, Beijing 100048, PR China. Author details 1Department of Neurosurgery, PLA Navy General Hospital, Fuchenglu Road 6#, Haidian District, Beijing 100048, PR China. 2Department of Pathology, PLA Navy General Hospital, Beijing 100048, PR China
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
