Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease

Michelle Paff; Nardin Samuel; Noor Alsafwani; Darcia Paul; Phedias Diamandis; Seth A Climans; Walter Kucharczyk; Mandy Yi Rong Ding; Andrew F Gao; Andres M Lozano

doi:10.1186/s12883-021-02531-y

Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease

BMC Neurol. 2022 Jan 5;22(1):10. doi: 10.1186/s12883-021-02531-y.

Authors

Michelle Paff^#¹, Nardin Samuel^#², Noor Alsafwani^{3

4}, Darcia Paul⁵, Phedias Diamandis³, Seth A Climans⁶, Walter Kucharczyk⁷, Mandy Yi Rong Ding⁶, Andrew F Gao^#³, Andres M Lozano^#⁵

Affiliations

¹ Department of Neurological Surgery, University of California Irvine, Irvine, CA, USA.
² Division of Neurosurgery, Department of Surgery, University Health Network, Toronto, ON, USA. nardin.samuel@mail.utoronto.ca.
³ Laboratory Medicine Program, University Health Network, Toronto, ON, USA.
⁴ Department of Pathology, College of Medicine, Imam Abdulrahman Bin Faisal University (IAU), Dammam, Saudi Arabia.
⁵ Division of Neurosurgery, Department of Surgery, University Health Network, Toronto, ON, USA.
⁶ Division of Neurology, Department of Medicine, University Health Network, Toronto, ON, USA.
⁷ Joint Department of Medical Imaging, University Health Network, University of Toronto, Toronto, ON, USA.

^# Contributed equally.

Abstract

Background: Leukoencephalopathy with brain calcifications and cysts (LCC; also known as Labrune syndrome) is a rare genetic microangiopathy caused by biallelic mutations in SNORD118. The mechanisms by which loss-of-function mutations in SNORD118 lead to the phenotype of leukoencephalopathy, calcifications and intracranial cysts is unknown.

Case presentation: We present the histopathology of a 36-year-old woman with ataxia and neuroimaging findings of diffuse white matter abnormalities, cerebral calcifications, and parenchymal cysts, in whom the diagnosis of LCC was confirmed with genetic testing. Biopsy of frontal white matter revealed microangiopathy with small vessel occlusion and sclerosis associated with axonal loss within the white matter.

Conclusions: These findings support that the white matter changes seen in LCC arise as a consequence of ischemia rather than demyelination.

Keywords: Case report; Intracranial calcifications; Intracranial cysts; Labrune syndrome; Leucoencephalopathy.

Publication types

Case Reports

MeSH terms

Adult
Calcinosis
Central Nervous System Cysts* / complications
Central Nervous System Cysts* / diagnostic imaging
Central Nervous System Cysts* / genetics
Cysts*
Female
Humans
Leukoencephalopathies* / complications
Leukoencephalopathies* / diagnostic imaging
Leukoencephalopathies* / genetics
Magnetic Resonance Imaging
White Matter*

Supplementary concepts

Leukoencephalopathy Brain Calcifications and Cysts