✓ The authors present a case of visual loss associated with fibrous dysplasia of the anterior skull base and the surgical management of this case. Preoperative computerized tomography scanning in this patient demonstrated a patent optic foramen and a rapidly growing cystic mass within the orbit, which was responsible for the patient's visual loss. A literature review revealed that this case is typical, in that cystic mass lesions of various types are frequently responsible for visual loss associated with fibrous dysplasia. The authors did not find significant evidence in the literature to support the notion that visual loss associated with fibrous dysplasia is the result of progressive optic canal stenosis, thus raising questions about the value of prophylactic optic canal decompression. Instead, as demonstrated by this case and those uncovered in the literature review, most instances of visual loss result from the rapid growth of mass lesions of cystic fibrous dysplasia, mucoceles, or hemorrhage. Findings of the literature review and the present case of fibrous dysplasia of the anterior skull base support a role for extensive surgical resection in these cases and indicate a need for additional prospective analysis of a larger number of patients with this disease.
Case report and review of the literature
Christopher B. Michael, Andrew G. Lee, James R. Patrinely, Samuel Stal, and J. Bob Blacklock
Mario Teo, Jeremiah N. Johnson, Teresa E. Bell-Stephens, Michael P. Marks, Huy M. Do, Robert L. Dodd, Michael B. Bober, and Gary K. Steinberg
Majewski osteodysplastic primordial dwarfism Type II (MOPD II) is a rare genetic disorder. Features of it include extremely small stature, severe microcephaly, and normal or near-normal intelligence. Previous studies have found that more than 50% of patients with MOPD II have intracranial vascular anomalies, but few successful surgical revascularization or aneurysm-clipping cases have been reported because of the diminutive arteries and narrow surgical corridors in these patients. Here, the authors report on a large series of patients with MOPD II who underwent surgery for an intracranial vascular anomaly.
In conjunction with an approved prospective registry of patients with MOPD II, a prospectively collected institutional surgical database of children with MOPD II and intracranial vascular anomalies who underwent surgery was analyzed retrospectively to establish long-term outcomes.
Ten patients with MOPD II underwent surgery between 2005 and 2012; 5 patients had moyamoya disease (MMD), 2 had intracranial aneurysms, and 3 had both MMD and aneurysms. Patients presented with transient ischemic attack (TIA) (n = 2), ischemic stroke (n = 2), intraparenchymal hemorrhage from MMD (n = 1), and aneurysmal subarachnoid hemorrhage (n = 1), and 4 were diagnosed on screening. The mean age of the 8 patients with MMD, all of whom underwent extracranial-intracranial revascularization (14 indirect, 1 direct) was 9 years (range 1–17 years). The mean age of the 5 patients with aneurysms was 15.5 years (range 9–18 years). Two patients experienced postoperative complications (1 transient weakness after clipping, 1 femoral thrombosis that required surgical repair). During a mean follow-up of 5.9 years (range 3–10 years), 3 patients died (1 of subarachnoid hemorrhage, 1 of myocardial infarct, and 1 of respiratory failure), and 1 patient had continued TIAs. All of the surviving patients recovered to their neurological baseline.
Patients with MMD presented at a younger age than those in whom aneurysms were more prevalent. Microneurosurgery with either intracranial bypass or aneurysm clipping is extremely challenging but feasible at expert centers in patients with MOPD II, and good long-term outcomes are possible.
Janet M. Legare, Chengxin Liu, Richard M. Pauli, Adekemi Yewande Alade, S. Shahrukh Hashmi, Jeffrey W. Campbell, Cory J. Smid, Peggy Modaff, Mary Ellen Little, David F. Rodriguez-Buritica, Maria Elena Serna, Jaqueline T. Hecht, Julie E. Hoover-Fong, and Michael B. Bober
The authors sought to determine the overall incidence of cervicomedullary decompression (CMD) in patients with achondroplasia and the characteristics associated with those surgeries across multiple institutions with experience caring for individuals with skeletal dysplasias.
Data from CLARITY (Achondroplasia Natural History Study) for 1374 patients with achondroplasia from four skeletal dysplasia centers (A. I. duPont Hospital for Children, Johns Hopkins University, University of Texas Health, and University of Wisconsin School of Medicine and Public Health) followed from 1957 to 2017 were recorded in a Research Electronic Data Capture (REDCap) database. Data collected and analyzed included surgeries, indications, complications, ages at time of procedures, screening procedures, and medical diagnoses.
There were 314 CMD procedures in 281 patients (20.5% of the entire cohort). The median age of first CMD was 1.3 years in males and 1.1 years in females. Over time, there was a decrease in the median age of patients at first CMD. All patients born before 1980 who underwent CMD had the procedure after 5 years of age, whereas 98% of patients born after 2010 underwent CMD before 5 years of age. In addition, a greater proportion of patients born in more recent decades had documented neuroimaging and polysomnography (PSG) prior to CMD. Ventriculoperitoneal shunts (VPSs) were placed more frequently in patients undergoing CMD (23%) than in the entire cohort (8%). Patients who required either CMD or VPS were 7 times more likely to require both surgeries than patients who required neither surgery (OR 7.0, 95% CI 4.66–10.53; p < 0.0001). Overall, 10.3% of patients who underwent CMD required a subsequent CMD.
The prevalence of CMD in this large achondroplasia cohort was 20%, with more recently treated patients undergoing first CMD at younger ages than earlier patients. The use of neuroimaging and PSG screening modalities increased over time, suggesting that increased and better surveillance contributed to earlier identification and intervention in patients with cervicomedullary stenosis and its complications.