Spontaneous Unilateral Chiari I Secondary to Acquired Tonsillar Hypertrophy/Pseudomass With Syringomyelia in a Juvenile With Progressive Scoliosis.

Chiari type 1 malformation (CM-1) is a structural defect of the central nervous system in which part of the cerebellar tonsils descend below the level of the foramen magnum, sometimes with associated syringomyelia. Although Chiari malformations were traditionally believed to be congenital, several cases of acquired CM-1 with syringomyelia have been reported. Usually associated with repeat lumbar puncture, increased intracranial pressure, and craniocephalic disproportion, CM-1 in the absence of an underlying etiology is rare. We report a rare case of spontaneous idiopathic tonsillar hypertrophy causing unilateral CM-1 with syringomyelia associated with progressive scoliosis in a juvenile with a previously normal neonatal MRI brain and no known underlying pathology. A 9-year-old boy was found to have scoliosis at a routine well-child visit with progression indicated on radiographs 4 months later. Whole spine MRI was performed and showed a new CM-1 with globular, mass-like configuration of the descended right tonsil with otherwise normal tonsillar characteristics. Surgical decompression via suboccipital craniectomy and C1 laminectomy with duraplasty was performed with improvement illustrated on repeat MRI 3 months postoperatively. This rare case emphasizes the importance of routine MRI spine early in select patients with idiopathic scoliosis and illustrates the favorable outcomes noted after decompressive craniectomy.

Metachronous Involvement, Diagnostic Imprecision of Serum Immunoglobulin G4 Levels, and Discordance Between Clinical and Radiological Findings in Immunoglobulin G4-Related Pachymeningitis: A Longitudinal Case Report.

Immunoglobulin G4-related disease is an increasingly recognized, idiopathic systemic disorder that might be associated with elevated serum IgG4 level and tissue infiltration by IgG4-positive plasma cells. We describe the clinical features and biopsy findings in a patient who presented with features suggestive of pachymeningitis and multiple cranial neuropathies. Meningeal biopsy and other laboratory studies established the diagnosis of IgG4-related hypertrophic pachymeningitis. Despite treatment with corticosteroids and mycophenolate mofetil, the patient exhibited a fluctuating progressive course, which stabilized with rituximab, although the radiological findings persisted over 2½ years of follow-up. Our case highlights many important evolving concepts in the disorder, including unusual pathologic features, lack of correlation between serum IgG4 levels and the clinical course, and posttreatment clinicoradiological discordance. We provide potential explanations for this discrepancy, highlight the validity of novel cerebrospinal fluid studies and progressive systemic involvement despite use of immune-suppressive treatments, and emphasize the usefulness of rituximab as a disease-stabilizing agent.

Double trouble: para-neoplastic anti-PCA-2 and CRMP-5-mediated small fibre neuropathy followed by chorea associated with small cell lung cancer and evolving radiological features.

Patients with Purkinje cell cytoplasmic autoantibody type 2 (PCA-2) and collapsin response-mediator protein-5 (CRMP-5) autoantibody can present with multifocal elements of encephalomyeloneuropathy. Except for an anecdotal report, case descriptions of paraneoplastic small fibre neuropathy are lacking. We report paraneoplastic small fibre neuropathy followed by chorea associated with small cell lung cancer. A man aged 57 years with a 35 pack-year smoking history presented with painless subacute paresthesia and weight fluctuation. A non-length-dependent small fibre neuropathy was confirmed by skin biopsy. Further testing revealed positive serum PCA-2 and CRMP-5 autoantibodies, which after positron emission tomography-CT led to histological confirmation of a small cell lung cancer. Initially, abnormal MRI and cerebrospinal fluid studies suggested central nervous system (CNS) involvement which was subclinical; however, 6 months later during antitumour therapy, the patient became symptomatic with choreoathetosis. After combined chemoradiation as well as immunosuppressive and symptomatic therapies, the clinical course stabilised, although residual neurological deficits remained at follow-up a year later. Coexistent PCA-2 and CRMP-5 autoantibodies may occur in the setting of small fibre peripheral neuropathy and choreoathetosis and predict cancer type. Two paraneoplastic syndromes can present successively over months; subclinical CNS involvement with evolving basal ganglia abnormalities can be a paraneoplastic manifestation. In the appropriate clinical setting, paraneoplastic testing should be considered in patients presenting with small fibre neuropathy.

Spinal Cord Infarction in a Patient with Hereditary Spherocytosis: A Case Report and Discussion.

The etiology of spinal cord infarcts (SCIs), besides being related to aortic perioperative events, in large subset of SCIs, remains cryptogenic. We present a first case of SCI in a patient with hereditary spherocytosis and discuss the potential pathophysiologic considerations for vascular compromise. A 43-year-old woman with a history of hereditary spherocytosis, post splenectomy status, presented with chest, back, and shoulder pain with subsequent myelopathic picture; SCI extending from C4-T2 was confirmed by MRI. Despite aggressive treatment her stroke progressed leading to her demise. Her autopsy confirmed the SCI and revealed some incidental findings, but the cause of SCI remained unidentified. Exclusion of the known etiologies of SCI by extensive negative workup including autopsy evaluation suggested that SCI in our case was related to her history of hereditary spherocytosis. Both venous and arterial adverse vascular events, at a higher rate, have been associated in patients with hereditary spherocytosis who had their spleens removed compared to nonsplenectomized patients. Postsplenectomy increases in the platelet, red blood cell count, leukocyte count, and cholesterol concentrations are postulated to contribute to increased thrombotic risk. Additional prothrombotic factors include continuous platelet activation and adhesion as well as abnormalities of the red blood cell membrane.

Neurofibromatosis 1-associated panhypopituitarism presenting as hypoglycaemic seizures and stroke-like symptoms.

A 37-year-old man with a known history of neurofibromatosis 1 (NF1) presented within 2 days of diarrhoeal illness followed by encephalopathy, facial twitching, hypoglycaemia, hypotension, tachycardia and low-grade fever. Examination showed multiple café-au-lait spots and neurofibromas over the trunk, arms and legs and receptive aphasia with right homonymous hemianopia, which resolved. Workup for cardiac, inflammatory and infectious aetiologies was unrevealing. A brain MRI showed gyral swelling with increased T2 fluid-attenuated inversion recovery signal and diffusion restriction in the left cerebral cortex. Neuroendocrine findings suggested panhypopituitarism with centrally derived adrenal insufficiency. Supportive treatment, hormone supplementation, antibiotics, antivirals and levetiracetam yielded clinical improvement. A follow-up brain MRI showed focal left parieto-occipital atrophy with findings of cortical laminar necrosis. In conclusion, we describe a case of NF1-associated panhypopituitarism presenting as hypoglycaemic seizures and stroke-like findings, hitherto unreported manifestations of NF1. Prompt recognition and treatment of these associated conditions can prevent devastating complications.

Clinical application of CT angiography in acute ischemic stroke.

OBJECTIVE: To evaluate the contribution of CT angiography (CTA) in predicting clinical outcome in a broad spectrum of patients presenting with acute neurological deficits suggestive of brain ischemia, to assess its strengths and limitations in this setting, and examine its influence on selection of patients for thrombolytic treatment. PATIENTS AND METHODS: Prospective, observational outcome study of 54 consecutive patients with acute neurological deficits suggestive of brain ischemia who received immediate CTA. Clinical outcome was compared for patients presenting with and without arterial occlusion on CTA. Treatment decisions made by a vascular neurologist blinded to CTA results were compared to CTA cognizant treatment. RESULTS: For patients presenting with slight to moderate neurological deficits, the sensitivity and specificity for predicting good clinical outcome was 0.62 and 0.79, respectively, using the initial NIH Stroke Scale (NIHSS) score alone, and 0.38 and 0.92 if additionally, CTA showed no occlusion. For patients presenting with more severe deficits, the sensitivity and specificity for predicting poor clinical outcome using the NIHSS score alone was 0.79 and 0.60, compared to 0.67 and 0.92 if CTA showed vessel obstruction. CTA correctly identified six stroke mimickers. Selection of patients for thrombolysis made with knowledge of CTA results were more often conservative, and corresponded to CTA blinded decisions in 42/50 cases (84%, r=0.72). CONCLUSIONS: Combining CTA results with the neurological exam allows increased specificity for predicting clinical outcome as compared to predictions based on admission NIH Stroke Scale score alone. Awareness of CTA results was occasionally associated with less aggressive treatment and testing decisions.

Rescue angioplasty after failed intra-arterial thrombolysis in acute middle cerebral artery stroke: a case report.

Intra-arterial thrombolysis is increasingly being used in the treatment of acute ischemic stroke with a failure rate of recanalization as high as 66%. We describe a case of acute ischemic stroke secondary to occlusion of the middle cerebral artery that failed intra-arterial thrombolytic therapy but responded to rescue balloon angioplasty.

CT angiography in acute ischemic stroke: preliminary results.

BACKGROUND AND PURPOSE: We sought to evaluate the ability of CT angiography (CTA) to determine vessel occlusion before acute stroke treatment and to predict its impact on patient outcome. METHODS: Consecutive patients with acute focal neurological deficits received immediate brain CTA. Occlusion on CTA was correlated with other neuroimaging studies and clinical outcome. RESULTS: Diagnostic CTA was obtained in 54 patients: catheter angiography (digital subtraction angiography) confirmed the CTA findings in 12 of 14 patients (86%). CTA results were consistent with at least 1 other neuroimaging study in 40 of 50 patients (80%). Patients with occlusion on CTA had significantly worse discharge National Institutes of Health Stroke Scale (NIHSS) score (mean 14.3 versus 4.5, P=0.0023). In multivariate analysis, both CTA-determined presence of occlusion and admission NIHSS score were independent predictors of clinical outcome. CONCLUSIONS: In our study there was good agreement between acute CTA interpretation and subsequent imaging studies. CTA evidence of occlusion correlated strongly and independently with poor clinical outcome. CTA provides relevant data regarding vessel patency in acute stroke, which may be of value in selecting patients for aggressive treatment.