Challenges in Diagnosis and Management of Previously Embolized Spinal Dural Arteriovenous Fistulae.

BACKGROUND: Given the growing prevalence of initial endovascular treatment for type 1 spinal dural arteriovenous fistulae (dAVF), there are an increasing number of patients presenting with progressive symptoms related to recurrent previously embolized spinal dAVF. This study's goal was to identify demographic, clinical, and radiographic variables among patients who have failed embolization of type I spinal dAVF. METHODS: A retrospective review of 24 consecutive surgeries for type I spinal dAVF performed by the senior author (A.D.L.) identified 5 patients who underwent open surgery for failed embolization. These 5 cases were reviewed for location of fistula, time from embolization to recurrence, preoperative functional status, fistulous point encountered at surgery, and clinical outcome of the patient at 3-month follow-up. A representative example case is reviewed in detail. RESULTS: The median age at time of recurrence was 63 years (range 51-73 years). The median timing of embolization to recurrence of neurologic symptoms was 5 months (range 1-54) and to surgery 7 months (range 2-60 months). The level of the spinal dAVF was most frequently at T12-L1 (n = 3). Spinal magnetic resonance arteriography led to localization of the spinal dAVF in 2 patients and spinal catheter angiogram in 3 cases. All patients had definitive radiographic cure of the dAVF at last clinical follow-up. CONCLUSIONS: The increased use of endovascular treatment of spinal dAVF has led to the treatment of refractory cases with a greater degree of surgical complexity. Open surgical ligation continues to provide the most definitive treatment outcomes for this complex spinal vascular entity.

Clinical and Neuroimaging Manifestations of Erdheim-Chester Disease: A Review.

Erdheim-Chester disease (ECD) is a rare disorder characterized by accumulation of non-Langerhans cell histiocytes in multiple organs. The clinical manifestations are protean and vary from asymptomatic focal disease to potentially fatal multisystem disorder. The commonest presentation is symmetric osterosclerotic lesions of lower extremity long bones; other organs, including cardiovascular, nervous, and endocrine system may be affected. Central nervous system involvement can occur in up to 50% cases and is associated with poor prognosis. The disease pathogenesis involves organ involvement secondary to histiocytic infiltration and systemic inflammation driven by Th1 cytokine activation. The recent discovery of activating mutations in proto-oncogene B-rapidly accelerated fibrosarcoma (BRAF) V600E and other genes involved in mitogen-activated protein kinase (MAPK) pathways has led to redefinition of ECD as a myeloid neoplastic disorder. The diagnosis requires histochemical and molecular analysis of histiocytes in tissue biopsies in patients with compatible clinical and imaging features. The treatment options include interferon-alpha, anakinra, and immunosuppressive therapies. Better understanding of disease pathogenesis has led to development of novel targeted and effective therapies including BRAF and MEK inhibitors. The rarity of the disease and variable clinical features and course often results in diagnostic errors and delays. Rare primary neurological presentation can occur mimicking CNS inflammatory, neoplastic, or demyelinating disorders. We report an unusual case of ECD presenting with progressive encephalopathy and ataxia along with multifocal brainstem and cerebellar lesions. A comprehensive review of clinical and neuroimaging features and immunohistochemical and molecular characteristic of ECD are presented along with review of neuroimaging findings in two previously reported cases.

Spine MRI: A Review of Commonly Encountered Emergent Conditions.

Over the last 2 decades, the proliferation of magnetic resonance imaging (MRI) availability and continuous improvements in acquisition speeds have led to significantly increased MRI utilization across the health care system, and MRI studies are increasingly ordered in the emergent setting. Depending on the clinical presentation, MRI can yield vital diagnostic information not detectable with other imaging modalities. The aim of this text is to report on the up-to-date indications for MRI of the spine in the ED, and review the various MRI appearances of commonly encountered acute spine pathology, including traumatic injuries, acute non traumatic myelopathy, infection, neoplasia, degenerative disc disease, and postoperative complications. Imaging review will focus on the aspects of the disease process that are not readily resolved with other modalities.

MR Imaging of the Spine: Urgent and Emergent Indications.

Spinal emergencies and urgent conditions must be recognized early so that the diagnosis can be quickly confirmed and treatment can be instituted to possibly prevent permanent loss of function. The American College of Radiology provides guidelines for recognition of patients presenting with myelopathy or acute low back pain who require further evaluation for suspicion of more serious problems and contribute to appropriate imaging utilization. Spinal emergencies include spinal cord compression secondary to vertebral fracture or space occupying lesion, spinal infection or abscess, vascular or hematologic damage, severe disc herniation, and spinal stenosis.

Dabrafenib and Trametinib Treatment for Erdheim-Chester Disease With Brain Stem Involvement.

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis characterized by infiltration of organs by CD68+ and CD1a- lipid-laden histiocytes, including the central nervous system in more than a third of patients. Molecular analysis of ECD samples has demonstrated the prevalence of BRAF V600E mutations as high as 54%. Recently, vemurafenib became the only Food and Drug Administration-approved treatment for patients with ECD who carry the BRAF V600E mutation. However, dabrafenib has been suggested to have greater brain distribution. We describe a 44-year-old female patient treated from August of 2015 through November 2017. She presented with a 2-year history of light-headedness, fatigue, and vertigo. She was moderately dysmetric, diffusely hyperreflexic, and dysarthric in the bilateral upper and lower extremities. Her gait was wide-based. She had dysarthria and nystagmus on horizontal gaze bilaterally. Magnetic resonance imaging showed an extensive area of increased T2/fluid-attenuated inversion recovery signal in the brain stem, enhancement in the pons and midbrain, and thickening of the pituitary stalk. Positron emission tomography/computed tomography (PET/CT) and whole-body technetium Tc99m bone scintigraphy showed intense symmetrical radiotracer uptake in the distal femur and tibia bilaterally, which was biopsied. Immunohistochemistry was negative for BRAF V600E, but genomic sequencing revealed the mutation. The patient received combination therapy with dabrafenib and trametinib. Her nystagmus, dysarthria, dysmetria, and gait improved remarkably. Subsequent PET/CT and magnetic resonance imaging showed complete resolution of all radiographic evidence of disease. In this case report, we demonstrate the success of a combination therapy with dabrafenib and trametinib.

MRI of intraneural perineurioma of the brachial plexus.

Intraneural perineurioma is an uncommon benign tumor of the perineurium of peripheral nerve sheaths occurring primarily in adolescents or young adults. MRI is a valuable tool in suggesting this diagnosis and in surgical planning. We report an 18-year old female with progressive right-hand weakness, numbness, and severe atrophic changes of the hand secondary to an intraneural perineurioma involving the right brachial plexus, in whom the initial diagnosis was suggested by MRI.