Leukoencephalopathy, Intracranial Calcifications, Cysts, and SNORD118 Mutation (Labrune Syndrome) with Obstructive...

Labrune syndrome is a neurologic disorder that manifests as a progressive cerebral degeneration characterized by a radiologic triad of cerebral white matter disease (leukoencephalopathy), intracranial calcification, and cysts. The associated novel genetic mutation in SNORD118 has been recently identified. However, its significance in relation to the progression and severity of the disease is yet to be clarified. We present a 12-year-old boy with a 3-month history of headache that worsened 1 week before admission and was associated with nausea and vomiting, ataxia, and motor developmental delay. His head scans demonstrated widespread intracranial calcifications, cysts, leukoencephalopathy, and obstructive hydrocephalus. He had urgent endoscopic-assisted aspiration of the cerebellar cyst with insertion of a reservoir with resolution of the hydrocephalus and raised intracranial pressure symptoms. His genetic testing revealed a rare biallelic mutation with 2 variants in the gene SNORD118. The progressive form of this disease will be challenging for neurosurgeons.