LaBrune syndrome is a rare progressive cerebral degeneration characterized by leukoencephalopathy, cerebral calcifications, and cysts. This disease was first reported in 1996, and a handful of cases have been reported to date, especially with an early onset. This case report exhibits a male in his sixties who presented with sudden onset right-sided weakness and incontinence after being found down.

A 62-year-old male presented with aphasia and right hemiparesis, leading to the activation of a stroke protocol. CT revealed multiple hyperdense lesions with extensive vasogenic edema, particularly in the left frontal lobe, causing mass effect and medialization of the left uncus. Following a neurosurgery consultation, an MRI of the brain showed multiple supratentorial ring-enhancing lesions with vasogenic edema, some accompanied by hemorrhage and calcification. Metastatic and infectious evaluations were negative. A biopsy of the dominant cyst in the left frontal region revealed severe reactive gliosis, microcalcifications, microangiopathic changes, and axonal damage suggestive of LaBrune syndrome. Genetic testing confirmed a mutation in the SNORD118 gene. The patient was treated symptomatically and showed no significant improvement with dexamethasone and bevacizumab therapy.

LaBrune syndrome is a rare genetic disorder resulting from mutations in the SNORD118 gene. Bevacizumab has been proposed to address the abnormal vasculature seen in affected patients. While usually characterized by initial symptoms such as epilepsy, ataxia, and cognitive decline, this patient presented atypically and was diagnosed via imaging and histopathological analysis. Further research is needed to better understand the disease process and explore treatment options.