Hypothalamic hamartomas are benign tumors known to cause gelastic or dacrystic seizures, precocious puberty, developmental delay, and medically refractory epilepsy. These tumors are most often sporadic but rarely can be associated with Pallister-Hall syndrome, an autosomal dominant familial syndrome caused by truncation of glioblastoma transcription factor 3, a downstream effector in the sonic hedgehog pathway. In this clinical report, the authors describe two brothers with a different familial syndrome. To the best of the authors’ knowledge, this is the first report in the literature describing a familial syndrome caused by germline mutations in the Smoothened (SMO) gene and the first familial syndrome associated with hypothalamic hamartomas other than Pallister-Hall syndrome. The authors discuss the endoscopic endonasal biopsy and subtotal resection of a large hypothalamic hamartoma in one of the patients as well as the histopathological findings encountered. Integral to this discussion is the understanding of the hedgehog pathway; therefore, the underpinnings of this pathway and its clinical associations to date are also reviewed.
Sebastian Rubino, Jiang Qian, Carlos D. Pinheiro-Neto, Tyler J. Kenning, and Matthew A. Adamo
Rachid Assina, Sebastian Rubino, Christina E. Sarris, Chirag D. Gandhi, and Charles J. Prestigiacomo
Early neurosurgical procedures dealt mainly with treatment of head trauma, especially skull fractures. Since the early medical writings by Hippocrates, a great deal of respect was given to the dura mater, and many other surgeons warned against violating the dura. It was not until the 19th century that neurosurgeons started venturing beneath the dura, deep into the brain parenchyma. With this advancement, brain retraction became an essential component of intracranial surgery. Over the years brain retractors have been created pragmatically to provide better visualization, increased articulations and degrees of freedom, greater stability, less brain retraction injury, and less user effort. Brain retractors have evolved from simple handheld retractors to intricate brain-retraction systems with hand-rest stabilizers. This paper will focus on the history of brain retractors, the different types of retractors, and the progression from one form to another.
Jacquelyn MacDonell, Niravkumar Patel, Sebastian Rubino, Goutam Ghoshal, Gregory Fischer, E. Clif Burdette, Roy Hwang, and Julie G. Pilitsis
Currently, treatment of brain tumors is limited to resection, chemotherapy, and radiotherapy. Thermal ablation has been recently explored. High-intensity focused ultrasound (HIFU) is being explored as an alternative. Specifically, the authors propose delivering HIFU internally to the tumor with an MRI-guided robotic assistant (MRgRA). The advantage of the authors’ interstitial device over external MRI-guided HIFU (MRgHIFU) is that it allows for conformal, precise ablation and concurrent tissue sampling. The authors describe their workflow for MRgRA HIFU delivery.
Sebastian Rubino, Rifat A. Zaman, Caleb R. Sturge, Jessica G. Fried, Atman Desai, Nathan E. Simmons, and S. Scott Lollis
Many neurosurgeons obtain repeat head CT at the first clinic follow-up visit for nonoperative cerebral contusion and traumatic subarachnoid hemorrhage (tSAH). The authors undertook a single-center, retrospective study to determine whether outpatient CT altered clinical decision-making.
The authors evaluated 173 consecutive adult patients admitted to their institution from April 2006 to August 2012 with an admission diagnosis of cerebral contusion or tSAH and at least 1 clinic follow-up visit with CT. Patients with epidural, subdural, aneurysmal subarachnoid, or intraventricular hemorrhage, and those who underwent craniotomy, were excluded. Patient charts were reviewed for new CT findings, new patient symptoms, and changes in treatment plan. Patients were stratified by neurological symptoms into 3 groups: 1) asymptomatic; 2) mild, nonspecific symptoms; and 3) significant symptoms. Mild, nonspecific symptoms included minor headaches, vertigo, fatigue, and mild difficulties with concentration, short-term memory, or sleep; significant symptoms included moderate to severe headaches, nausea, vomiting, focal neurological complaints, impaired consciousness, or new cognitive impairment evident on routine clinical examination.
One hundred seventy-three patients met inclusion criteria, with initial clinic follow-up obtained within approximately 6 weeks. Of the 173 patients, 104 (60.1%) were asymptomatic, 68 patients (39.3%) had mild, nonspecific neurological symptoms, and 1 patient (1.0%) had significant neurological symptoms. Of the asymptomatic patients, 3 patients (2.9%) had new CT findings and 1 of these patients (1.0%) underwent a change in treatment plan because of these findings. This change involved an additional clinic appointment and CT to monitor a 12-mm chronic subdural hematoma that ultimately resolved without treatment. Of the patients with mild, nonspecific neurological symptoms, 6 patients (8.8%) had new CT findings and 3 of these patients (4.4%) underwent a change in treatment plan because of these findings; none of these patients required surgical intervention. The single patient with significant neurological symptoms did not have any new CT findings.
Repeat outpatient CT of asymptomatic patients after nonoperative cerebral contusion and tSAH is very unlikely to demonstrate significant new pathology. Given the cost and radiation exposure associated with CT, imaging should be reserved for patients with significant symptoms or focal findings on neurological examination.