Multi-omic analysis elucidates the genetic basis of hydrocephalus

We conducted PrediXcan analysis of hydrocephalus risk in ten neurological tissues and whole blood. Decreased expression of MAEL in the brain was significantly associated (Bonferroni-adjusted p \u3c 0.05) with hydrocephalus. PrediXcan analysis of brain imaging and genomics data in the independent UK Biobank (N = 8,428) revealed that MAEL expression in the frontal cortex is associated with white matter and total brain volumes. Among the top differentially expressed genes in brain, we observed a significant enrichment for gene-level associations with these structural phenotypes, suggesting an effect on disease risk through regulation of brain structure and integrity. We found additional support for these genes through analysis of the choroid plexus transcriptome of a murine model of hydrocephalus. Finally, differential protein expression analysis in patient cerebrospinal fluid recapitulated disease-associated expression changes in neurological tissues, but not in whole blood. Our findings provide convergent evidence highlighting the importance of tissue-specific pathways and mechanisms in the pathophysiology of hydrocephalus

Successful surgical treatment of intractable hemifacial spasm: A case report and review of cerebellar hamartomas of the floor of the fourth ventricle

Introduction: Hamartomas involving the floor of the fourth ventricle and cerebellum are rare, but can be associated with medically recalcitrant hemifacial spasm. These lesions present early in the neonatal or infantile period and respond well to surgical excision. Case Report: A 3-month-old white male presented with recurrent left hemifacial spasm, left eye deviation, and absent movement of the extremities. The patient was found to have a left eccentric lesion in the floor of the fourth ventricle and cerebellum. The patient showed no improvement with medical therapy by 6 months of age. He was taken to the operating room for suboccipital craniotomy and removal of the posterior arch of C1 followed by intralesional recording of epileptogenic activity and gross total resection of the lesion. After histologic analysis, the lesion was determined to be ectopic cerebral tissue consistent with a hamartoma. Postoperative MRI showed complete removal of the lesion, and the patient exhibited complete remission of his hemifacial spasm and associated symptoms. Conclusions: Hamartomas involving the floor of the fourth ventricle can present with hemifacial spasm and respond well to surgical excision. Keywords: Cerebellar, Seizure, Epilepsy, Hamartom

Surgical management of a hemorrhagic pediatric brainstem cavernous malformation – A case report

Vascular malformations of the central nervous system such as cavernous malformations and arteriovenous malformations are rare lesions with controversial management recommendations in the pediatric population. We report a case of a 3-year-old male who presented with multiple discrete episodes of focal neurological deficits including ataxia and an abducens nerve palsy. Imaging revealed a 1.5 cm hemorrhagic mass located in the pons that was concerning for a cavernous malformation. This lesion was completely excised via a combined transpetrosal approach, and the patient had complete resolution of neurologic symptoms at three-month follow-up