Emergent image-guided treatment of a large CSF leak to reverse "in-extremis" signs of intracranial hypotension.

We report the use of an emergent, targeted fibrin spinal epidural blood patch with subarachnoid saline infusion to rapidly reverse "in-extremis" clinical and imaging signs of posterior-fossa coning brought about by acute-on-chronic intracranial hypotension, itself consequent to a cervicothoracic CSF leak. Treatment resulted in a dramatic recovery and eventual discharge with return to normal lifestyle and occupation. The clinical and imaging danger signs are reviewed; fibrin patch technique and potential pitfalls in postprocedure management are analyzed.

A 12-month prospective study of gasserian ganglion stimulation for trigeminal neuropathic pain.

AIMS: Trigeminal neuropathic pain is a broad diagnostic category that includes pain of several etiologies and excludes trigeminal neuralgia. The authors report a prospective series of percutaneous gasserian ganglion stimulation for trigeminal neuropathic pain. METHODS: Patients who experienced >50% reduction in pain from a 7- to 10-day trial period underwent permanent implantation and were prospectively followed. RESULTS: Eight of 10 trialed patients received a permanent implant. At the 12-month follow-up, 2 patients had been explanted and 1 was lost to follow-up. Three (all working at that the time) continued to experience >50% improvement in pain. DISCUSSION: The results in this series were variable but 3 patients showed long-term improvements. Patients who continued to work responded better to treatment.

Malattia leventinese presenting with subretinal neovascular membrane and hemorrhage.

PURPOSE: To report a case of malattia leventinese involving subretinal hemorrhage. METHODS: Case report. RESULTS: Two weeks after initial presentation, the visual acuity of this 34-year-old man decreased to LE: 20/100. Funduscopic evaluation revealed a subretinal hemorrhage involving the center of the foveal in the left eye that was interpreted as secondary to a neovascular membrane on fluorescein angiography. The patient did well after the removal of the submacular material by pars plana vitrectomy. CONCLUSION: Patients with malattia leventinese may occasionally present with submacular hemorrhage. Prompt diagnosis and intervention may enhance the patient's chance for visual improvement.

Mutations in the CRB1 gene cause Leber congenital amaurosis.

OBJECTIVES: To test the hypothesis that mutations in the CRB1 gene cause Leber congenital amaurosis (LCA) and, if so, to describe the ocular phenotype of patients with LCA who harbor CRB1 sequence variations. PATIENTS: One hundred ninety probands with a clinical diagnosis of LCA were selected from a cohort of 233 probands ascertained in 5 different countries. The remaining 43 probands (18%) were excluded because they harbored sequence variations in previously identified LCA genes. METHODS: One hundred ninety unrelated individuals with LCA were screened for coding sequence mutations in the CRB1 gene with single-strand conformation polymorphism analysis followed by automated DNA sequencing. RESULTS: Twenty-one of the 190 probands (9% of the total cohort of 233) and 2 (1.4%) of 140 controls harbored amino acid-altering sequence variations in the CRB1 gene (P =.003). CONCLUSIONS: In our cohort of patients with LCA, coding sequence variations were observed in the CRB1 gene more frequently than in any of the other 5 known LCA-associated genes. Likely disease-causing sequence variations have now been identified in 64 (28%) of 233 subjects in this cohort. CLINICAL RELEVANCE: Molecular diagnosis can confirm and clarify the diagnosis in an increasing fraction of patients with LCA. As genotype data accumulate, clinical phenotypes associated with specific mutations may be established. This will facilitate the counseling of patients regarding their visual prognosis and the likelihood of associated systemic anomalies.

Rupture of a large ophthalmic segment saccular aneurysm associated with closed head injury: case report.

OBJECTIVE AND IMPORTANCE: Although each year approximately 30,000 to 50,000 cases of subarachnoid hemorrhage in the United States are caused by the rupture of intracranial saccular aneurysms, there is little information in the literature documenting the association of aneurysmal rupture with closed head injury. CLINICAL PRESENTATION: A 61-year-old woman presented after a motor vehicle accident with multiple injuries, including a severe closed head injury. Computed tomography revealed a diffuse basal subarachnoid hemorrhage. Angiography revealed the source as a large aneurysm arising from the ophthalmic segment of the left carotid artery. INTERVENTION: After the patient was stabilized for her multiple injuries, she underwent craniotomy and clipping of the aneurysm. She recovered without developing new neurological deficits. CONCLUSION: Although the association of head trauma and aneurysmal subarachnoid hemorrhage is rare, the presence of significant basal subarachnoid blood on a computed tomographic scan should alert the physician to the possibility of a ruptured aneurysm.

Type IV spinal arteriovenous malformation in association with familial pulmonary vascular malformations: case report.

OBJECTIVE AND IMPORTANCE: Type IVc arteriovenous malformations (AVMs) of the spinal cord consist of multiple high-flow feeding vessels, and they often present a challenging management situation. Their location is intradural and extramedullary, and they are rare malformations that are difficult to treat owing to the risk of thrombosis of the anterior spinal artery. The authors report a case of Type IVc spinal AVM in a patient with a family history of three siblings with pulmonary AVMs. Spinal AVMs have been reported to be associated with inherited syndromes such as familial cutaneous hemangiomas and Kartagener's syndrome, but an association with pulmonary AVMs has not previously been described. CLINICAL PRESENTATION: A 27-year-old man presented with sudden onset of occipital headache with cervical radiation while weightlifting. Results of computed tomography of the brain were normal, but lumbar puncture revealed a subarachnoid hemorrhage. The patient had a 1-year history of a neurogenic bladder and exhibited marked left calf muscle wasting. INTERVENTION: The patient underwent spinal magnetic resonance imaging, which revealed the AVM in the conus region. Selective spinal angiography was performed for diagnostic purposes. A laminectomy was performed, and the vessels feeding the AVM were clipped, as was the fistula. CONCLUSION: The patient remained neurologically stable, and angiography confirmed obliteration of the AVM. This is the first case report of a patient with a spinal AVM who had multiple siblings with pulmonary malformations or AVMs.