Noor S. Alsafwani1, Phedias Diamandis1, Andrew F. Gao 1
1Laboratory Medicine Program, University Health Network, Toronto, ON
Leukoencephalopathy with brain calcifications and cysts (LCC; also known as Labrune syndrome) is rare genetic microangiopathy caused by biallelic mutations in SNORD118. We present a 36-year-old woman presenting with gait disturbance. Brain imaging reveals diffuse white matter abnormalities, cerebral calcifications, and parenchymal cysts, including a dominant pontine cyst that required an immediate neurosurgical intervention to relieve mass effect.
Neuroradiologic and neuropathological features raised the possibility of LCC, and genetic testing revealed compound heterozygous mutations in SNORD118, confirming the diagnosis.
1 : The differential diagnosis for this lesion
2 : Additional investigations to confirm the diagnosis
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