Ataxia and ophthalmoplegia: an atypical case of Miller Fisher syndrome (MFS) with anti-GAD antibody.

BACKGROUND: Miller Fisher syndrome (MFS) is frequently encountered variant of Gillian Barre Syndrome (GBS). It has distinct clinical and serological features. Here we describe an atypical GQ1b seronegative case with significantly elevated anti-glutamic acid decarboxylase antibody (GAD-Ab). CASE DESCRIPTION: A 24-year-old previously healthy Caucasian male presented with rapidly progressive ascending weakness, binocular diplopia and autonomic instability for 2 days. Examination was remarkable for asymmetrical facial weakness (L > R), opthalmoplegia and truncal ataxia without areflexia. MRI brain was normal. CSF analysis showed elevated protein. Electromyography/Nerve Conduction Study (EMG/NCS) within the first week was normal. Antiganglioside antibodies were negative. Extended serological and neoplastic workup revealed negative anti-GQ1b antibody, but significant increase of GAD-Ab, Voltage Gated Calcium Channel (VGCC) Ab, and mild elevation of TPO Ab IgG and Thyroglobulin (Tg) Ab IgG. Clinical diagnosis of partial MFS was made. He received a course of IVIg (2 g/kg over 5 days) and had complete recovery in 3 months. CONCLUSION: There are incomplete or atypical forms of MFS. Recognition of its various clinical presentations is essential for early diagnosis and optimal management. Further investigation is needed to elucidate the role of anti-GAD-ab and other autoimmune antibodies in the pathogenesis of GQ1b-seronegative MFS patients.

Case Report: Amphiphysin Antibody-Associated Stiff-Limb Syndrome and Myelopathy: An Unusual Presentation of Breast Cancer in an Elderly Woman.

Background: Paraneoplastic stiff-limb syndrome (SLS) is a rare manifestation of underlying malignancy and could have distinctive features different from the classic stiff-person syndrome (SPS). Case Description: We present a case of anti-amphiphysin antibody (Ab)-associated paraneoplastic SLS, in an 83-year-old woman with invasive ductal carcinoma of the breast. She presented with stiffness, painful spasms of the distal legs, and asymmetrical fixed posturing of the foot. There are coexisting long-tract disturbance and lower-extremity weakness. Treatment with diazepam provided symptomatic relief while plasma exchange (PLEX) did not lead to significant clinical improvement. The patient was bedridden within 3 months and passed away within 6 months from symptom onset. Conclusion: This case highlights the importance of recognition of uncommon presentation of SPS and its oncological significance. This entity requires a high degree of suspicion for initiation of the proper workup. The rapid identification and treatment of the underlying tumor might offer the best chance for recovery.

Tumefactive multiple sclerosis (TMS): A case series of this challenging variant of MS.

BACKGROUND: Tumefactive MS is a rare variant of multiple sclerosis that poses a diagnostic and a therapeutic challenge due to its close resemblance to central nervous neoplasms on MRI. TMS is defined as acute large >2 cm, tumour like demyelinating lesion in the CNS that may occur with surrounding edema, mass effect and ring enhancement. Some of the known mimickers are CNS lymphoma, metastasis, primary brain tumour such as glioblastoma, brain abscesses. The prevalence of TMS is estimated to be 1-3/1000 cases. There are also reported cases of drug induced TMS cases especially with fingolimod and natalizumab therapy. We report the occurrence of tumefactive MS at our institution. METHODS: We retrospectively reviewed the chart of the patients with multiple sclerosis including initial visits, hospitalizations, clinic follow up notes and collected data on demographic, ethnicity, presenting signs and symptoms, imaging modalities, cerebrospinal fluid analysis results, disease progression. After reviewing the charts, we isolated the patients with tumefactive multiple sclerosis from the group and summarized the cases. Four of these patients were managed with Glatiramer acetate, 2 on dimethyl fumarate and 1 on beta interferon with 0-2 clinical flare ups on subsequent years. RESULTS: Out of 323 patients reviewed with multiple sclerosis or possible multiple sclerosis, 7 carried a diagnosis of tumefactive MS. The age range of these patients were 19 to 62 years old with 4 females and 3 males. Five patients were Caucasian and 2 were Hispanic. Out of seven patients, 6 were newly diagnosed MS following biopsy of the lesion. The histological findings in 3 patients who underwent biopsy demonstrated include reactive gliosis and inflammatory cells predominantly macrophages and lymphocytes while 1 patient showed hypercellular brain tissue with perineuronal satellosis. CONCLUSION: Tumefactive MS remains a challenging disease to diagnosis and often times requires a biopsy for definitive diagnosis or to exclude neoplasms, other inflammatory conditions such as neurosarcoidosis. The demographic of the patients in this case series is no different than patients with relapsing remitting multiple sclerosis (RRMS). However, based on our experience, the patients with TMS do respond to disease modifying agents such as Glatiramer acetate and Dimethyl fumarate with similar progression as of RRMS.

Overlapping autoimmune syndrome: A case of concomitant anti-NMDAR encephalitis and myelin oligodendrocyte glycoprotein (MOG) antibody disease.

Anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis is an autoimmune disorder of the central nervous system that commonly manifests as a complex neuropsychiatric syndrome. Antibodies against myelin oligodendrocyte glycoprotein (MOG) are associated with a range of clinical presentations including acute disseminated encephalomyelitis (ADEM), optic neuritis, and transverse myelitis. The concurrence of NMDAR encephalitis and demyelinating syndromes is rare. We describe the case of a 29-year-old male with NMDAR encephalitis and overlapping MOG antibody disease. The aim of this report is to add to the growing knowledge of phenotypic characteristics of overlap syndromes as their clinical and prognostic features may differ from those of single antibody disease.

Anti-glutamic acid decarboxylase (GAD) positive cerebellar Ataxia with transitioning to progressive encephalomyelitis with rigidity and myoclonus (PERM), responsive to immunotherapy: A case report and review of literature.

We present a case of a 65-year-old African American male, immunosuppressed on Tacrolimus, who initially presented with cerebellar ataxia and rapidly developed Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) with positive anti-glutamic acid decarboxylase (GAD65) antibodies, no underlying malignancy, and normal neuroimaging. PERM is a rare spectrum of Stiff Person Syndrome (SPS), which is strongly associated with anti-GAD antibodies and characterized by flare-ups and remissions of encephalopathy, myelopathy and rigidity with myoclonus. PERM is diagnosed clinically and has been successfully treated with both Intravenous Immunoglobulin (IVIg) and plasmapheresis. Our patient was successfully treated with IVIg. On day 14 after starting IVIg treatment, his neurological symptoms started to improve and ultimately returned to baseline.

Embryonal Tumor with Multilayered Rosettes, C19MC-Altered: Clinical, Pathological, and Neuroimaging Findings.

BACKGROUND AND PURPOSE: Embryonal tumor with multilayered rosettes (ETMR), C19MC-altered, is a recently described, rare central nervous system tumor. To our knowledge, the imaging findings of this tumor have not been systematically evaluated in the neuroradiology literature. We present here the clinical, radiological, and pathological correlation of a case series of this very rare tumor, including the full range of anatomic compartment presentations (supratentorial, infratentorial, and spinal). METHODS: We retrospectively analyzed 7 (4M, 3F) pathologically-proven cases of ETMR referred to our institution between 2007 and 2017. We demonstrate the imaging characteristics of this tumor on CT and MRI with advanced imaging. RESULTS: All of the patients are children (ages 1-12). On MR imaging of ETMR, contrast enhancement is often heterogeneous and minimal if any, and there is no significant surrounding T2 fluid-attenuated inversion recovery (FLAIR) hyperintensity to suggest edema. The lesions were often expansile with no evidence of infiltration of the fiber tracks that were displaced by the tumor mass. Diffusion-weighted imaging often demonstrated restricted diffusion within ETMRs. On magnetic resonance spectroscopy (MRS), the choline/creatine (Cho/Cr) ratio is increased, with low N-acetylaspartate (NAA) or NAA/Cho ratio, typical of high-grade tumors. CONCLUSION: We demonstrate the conventional and advanced imaging characteristics of ETMR, including MRS and diffusion tensor imaging, which, to our knowledge, have not been systematically evaluated in the radiology literature. The knowledge gained may potentially impact patient management, especially in inoperable cases and in locations where it is risky to perform a biopsy.

MRI venous architecture of insula.

PURPOSE: The purpose of this paper is to describe the venous anatomy of the insula using conventional MR brain imaging and confocal reconstructions in cases with glioma induced venous dilatation (venous gliography). METHODS: Routine clinical MRI brain scans that included thin cut (1.5-2 mm) post contrast T1 weighted imaging were retrospectively reviewed to assess the insular venous anatomy in 19 cases (11 males and 8 females) with insular gliomas. Reconstruction techniques (Anatom-e and Osirix) were used to improve understanding of the venous anatomy. RESULTS: We identified the following insular and peri-insular veins on MRI: the superficial middle cerebral vein (SMCV), peri-insular sulcus vein, vein of the anterior limiting sulcus, the precentral, central, and posterior sulcus veins of the insula, the communicating veins and deep MCV. CONCLUSIONS: We concluded that venous anatomy of insula is complicated and is often overlooked by radiologists on MR brain imaging. Use of confocal imaging in different planes helped us to identify the superficial and deep middle cerebral veins and their relationship to the insula. The understanding of the insular venous architecture is also useful to distinguish these vessels from insular arteries. This knowledge may be helpful for presurgical planning prior to insular glioma resection.

MRI venous architecture of the thalamus.

PURPOSE: Our purpose is to describe the thalamic veins using a novel approach named venous gliography in cases with primary or secondary gliomas of the thalamus. Venous gliography is defined by authors as a method to visualize veins on MRI Brain T1-weighted post contrast scans containing gliomas which have induced regional venous congestion. METHODS: Routine clinical MR Imaging studies were reviewed to assess the presence of thalamic veins in 29 glioma cases. In addition, confocal reconstruction techniques (Anatom-e and Osirix) were used in cases that had thin sections (1.0-1.5mm) post contrast T1 weighted sequences. Multiplanar MIP and confocal volume rendered images were generated to evaluate the thalamic veins in those cases. RESULTS: Using venous gliography and confocal reconstruction techniques, two patterns in the venous architecture of the thalamus were documented. First, the branching pattern created by the tributaries of the internal cerebral vein, namely the superior thalamic vein and the anterior thalamic vein, which together formed the superior group of thalamic veins. Second, the pattern created by the un-branched vertically oriented veins, namely the inferior thalamic veins and the posterior thalamic veins, which joined the basal vein of Rosenthal and constituted the inferior group of thalamic veins. CONCLUSIONS: Venous gliography combined with the use of confocal reconstruction techniques provided a novel approach to display the thalamic veins that are usually not seen. The understanding of the venous architecture is mandated by the recent research where veins have taken on an important role in the perivenular spread of gliomas.