The Natural History of Fibrous Dysplasia of the Orbit.

BACKGROUND: Orbital fibrous dysplasia (FD) is a disease of disordered fibro-osseous proliferation secondary to altered osteogenesis, with potential sequelae including compressive neuropathy and irreversible vision loss. The purpose of this study was to evaluate the natural history and longitudinal outcomes of 37 patients with orbital FD who underwent stratified surgical management. METHODS: All patients treated for FD from 2015-2021 were identified, yielding 185 patients, 39 with orbital involvement. Impressions from head CTs were analyzed by a craniofacial radiologist to evaluate location and timing of tumor growth. Operative records were reviewed to determine surgical approach (partial excision/contouring, complete excision, or partial excision with optic nerve decompression). RESULTS: Average age at diagnosis was 10.7±4.5 years, with average follow up of 5.2±4.7 years. Of the 37 patients with orbital involvement, 28 (75.7%) had optic canal involvement. Of those with optic canal involvement, 13 (46.4%) required partial excision with optic nerve decompression while 15 (53.6%) did not. Of those without optic canal involvement, two patients (22.2%) underwent partial excision/contouring of the anterior orbit to correct dystopia and/or proptosis and four patients (44.4%) underwent complete excision of the orbital component and reconstruction with bone graft or mesh. Younger age at diagnosis was associated with an increased number of surgical interventions (p=.011), younger age at first optic canal decompression (p=.003) and worse visual outcomes (p=.009). CONCLUSIONS: In our cohort, patients diagnosed at a younger age required more surgeries, underwent decompression earlier, and had worse visual outcomes.

Pediatric spinal cord biopsy: A case series from a high-volume referral center.

Pediatric patients presenting with intramedullary spinal cord lesions often require specific diagnoses to guide their treatment plans. Though results from magnetic resonance imaging and lumbar puncture may narrow the differential diagnosis, these tests cannot always provide a definitive diagnosis. In such cases, spinal cord biopsy may be undertaken to provide a specific histopathologic diagnosis for guiding treatment. Data from the adult population show 24% of spinal cord biopsies can be nondiagnostic and the procedure may carry a 21% complication rate. Therefore, spinal cord biopsy may portend a similar high risk-to-benefit ratio in the pediatric population. Here, we review spinal cord biopsy cases scheduled for diagnosis, and not debulking, at a high volume pediatric referral center during a seventeen-year period. We report our experience with five patients who met our inclusion criteria. Due to the rarity of the procedure, statistically significant factors associated with improved diagnostic yield or peri-operative complication could not be identified. A definitive diagnosis which guided the post-operative treatment plan was obtained in four of our five patients. None of our patients developed post-operative motor deficits. However, these patients were susceptible to the same risks of open spine surgery, such as wound infections and spinal deformities. Our case series shows that intramedullary spinal cord biopsies may provide tissue for obtaining histopatholgic diagnoses. However, the potential risks of complication, and the possibility of obtaining nondiagnostic tissue, should be discussed with patients, families and their medical treatment teams.

The Effects of Molding Helmet Therapy on Spring-Mediated Cranial Vault Remodeling for Sagittal Craniosynostosis.

There is no clear consensus for the optimal treatment of sagittal craniosynostosis; however, recent studies suggest that improved neurocognitive outcomes may be obtained when surgical intervention imparts active cranial expansion or remodeling and is performed before 6 months of age. The authors consider spring-mediated cranioplasty (SMC) to optimally address these imperatives, and this is an investigation of how helmet orthoses before or after SMC affect aesthetic outcomes.The authors retrospectively evaluated patients treated with SMC and adjunct helmeting for sagittal synostosis. Patients were stratified into 4 cohorts based on helmet usage: preop, postop, both, and neither. The cephalic index (CI) was used to assess head shape changes and outcomes. Twenty-six patients met inclusion criteria: 6 (23%) had preop, 11 (42%) had postop, 4 (15%) had preop and postop, and 5 (19%) had no helmeting. Average age at surgery was 3.6 months. Overall, CI improved from a mean 69.8 to 77.9 during an average 7-month course of care. Mean preoperative change in CI showed greater improvement with preop helmet (1.3) versus not (0.0), (P = 0.029), despite similar initial CI in these cohorts (70.4 and 69.6 respectively, P = 0.69). Nonetheless, all patient cohorts regardless of helmeting status achieved similar final CIs (range 76.4-80.4; P = 0.72).In summary, preoperative molding helmet therapy leads to improved CI at the time of spring-mediated cranioplasty. However, this benefit does not necessarily translate into overall improved CI after surgery and in follow-up, calling into question the benefits of molding helmet therapy in this setting.

Intracranial aneurysms in sickle cell anemia: clinical and imaging findings.

BACKGROUND: Cerebral aneurysm formation is one of the cerebrovascular complications of sickle cell disease. OBJECTIVE: To report the clinical and imaging findings of intracerebral aneurysms and their treatment in pediatric and adult patients with sickle cell disease. METHODS: Review of clinical data via chart abstraction and radiologic features at the University of Pennsylvania and Children's Hospital of Philadelphia from 2000 to 2014 and review of the literature since 1942. RESULTS: Nineteen patients with aneurysms (2.7%) were found in 709 imaged patients, including 1.2% of imaged children and 10.8% of adults. A total of 44 aneurysms were detected (52.6% with multiple aneurysms, overall 2.3 per patient), 35 (79.5%) in the anterior circulation and 9 in the posterior circulation (20.4%). Thirty-eight unruptured aneurysms ranging in size from 2 to 6 mm and six ruptured aneurysms ranging in size from 3 to 9 mm in diameter were found. Of the patients with ruptured aneurysms, two were treated by stent-assisted coiling, two by clipping, and one patient with coiling. In the group without a rupture, one patient was treated by coil embolization and one patient with a peripheral middle cerebral artery aneurysm was treated by aneurysmectomy. Three pediatric patients with a previously normal MR angiogram demonstrated new aneurysm formation during the study. CONCLUSIONS: Adult patients with sickle cell disease have a high prevalence of aneurysm formation. Both pediatric and adult patients with sickle cell disease tend to develop multiple aneurysms with frequent involvement of atypical locations, in both anterior and posterior circulations.

Endoscopic, endonasal, transclival resection of a pontine cavernoma: case report.

BACKGROUND AND IMPORTANCE: Hemorrhagic, symptomatic cavernous malformations in the brainstem are difficult to access. Conventional approaches such as the transpetrosal approach often require significant brain retraction. We present the successful purely endoscopic, endonasal, transclival resection of a symptomatic cavernoma located in the ventromedial pons. CLINICAL PRESENTATION: A 17-year-old male patient presented with acute onset of headache, facial numbness, and tingling. Magnetic resonance imaging demonstrated an enhancing lesion in the pons consistent with a cavernous malformation. Over the course of the next 3 weeks, the patient had 2 additional episodes of acutely worsening neurological deficits that left him with left-sided hemiparesis, a right sixth nerve palsy, and dysphagia. A purely endoscopic, endonasal, transclival approach was used to resect the cavernoma. Postoperatively, he had a transient worsening of his left-side motor function and restricted horizontal gaze, but at the last follow-up, his hemiparesis had improved and his magnetic resonance imaging demonstrated a radiographic cure. He developed a cerebrospinal fluid (CSF) leak despite prophylactic lumbar CSF drainage for 2 days and the use of bilateral vascularized nasoseptal flaps. The CSF leak was repaired with CSF diversion and a second surgical procedure; at the last follow-up, he had no recurrence of the leak. CONCLUSION: An endoscopic, endonasal, transclival approach is a novel and effective approach to cavernous malformations presenting to the ventral surface of the pons. Recently developed techniques for closure and repair of the skull base defect have minimized but have not eliminated the risk of CSF leak in these procedures.