Spinal procedures, pneumocephalus, and cranial nerve palsies: A review of the literature.

Purpose: Minimally invasive and surgical spine procedures are commonplace with various risks and complications. Cranial nerve palsies, however, are infrequently encountered, particularly after procedures such as lumbar punctures, epidural anesthesia, or intrathecal injections, and are understandably worrisome for clinicians and patients as they may be interpreted as secondary to a sinister etiology. However, a less commonly considered source is a pneumocephalus which may, in rare cases, abut cranial nerves and cause a palsy as a benign and often self-resolving complication. Here, we present the case of a patient who underwent an intrathecal methotrexate infusion for newly diagnosed non-Hodgkin's T-cell lymphoma and subsequently developed an abducens nerve palsy due to pneumocephalus. We highlight the utility of various imaging modalities, treatment options, and review current literature on spinal procedures resulting in cranial nerve palsies attributable to pneumocephalus presenting as malignant etiologies.

Epilepsy in patients with WWOX-related epileptic encephalopathy (WOREE) syndrome

Objective: Epileptic encephalopathy (EE) is difficult to diagnose and manage. It can be caused by a variety of disorders, and its aetiology may guide management and prognosis. The human gene for WW domain-containing oxidoreductase (WWOX) has been associated with epileptic encephalopathy, which presents in infancy with seizures, psychomotor delay, microcephaly, and optic atrophy. Methods: We report nine patients with WWOX-related EE from six families. We provide detailed descriptions of clinical presentations, imaging findings, neurophysiological manifestations, and related mutations. Whole-exome sequencing (WES) was used to identify the mutations in the WWOX gene. Results: We established correlations between genotype and phenotype in our cases and previously reported cases. Significance: Our data support previously reported findings regarding WWOX-related EE, indicating the importance of the human WWOX gene in brain development and the association between WWOX mutations and EE. Our study also highlights the power of WES, particularly in clinically challenging cases.