First Case of Association between Autoimmune Autonomic Ganglionopathy (AAG) and Myeloproliferative Neoplasms (MPNs)

Introduction Autoimmune autonomic ganglionopathy (AAG) is a rare disease that presents with different autonomic symptoms and positive autoantibodies against the ganglionic acetylcholine receptor (gAChR) in 50 % of the cases. Eighty percent of seropositive patient has extra-autonomic manifestations. Extra-autonomic manifestations include sensory disturbance, central nervous system involvement, endocrine disorders autoimmune diseases, and cancers. It has been reported with various malignancies, such as small lung cancer, thymoma, ovarian tumors and others. Method We report a case from MD Anderson cancer center (MDACC) and to our knowledge it is first case in literature of a patient Autoimmune autonomic ganglionopathy associated with primary myelofibrosis Result A 55-year-old African American male diagnosed with JAK2 V617F positive primary myelofibrosis in 2005 and placed on observation until September 2012 when he was referred to MDACC for further management. He was started on protocol with Ruxolitinib + lenalidomide and did well initially, but during the course of treatment, he started to experience leg weakness. Initially in the left leg and then the right leg. lenalidomide was placed on hold and in April 2015, ruxolitinib was held as well. On examination he has left leg weakness in addition to weak hand grip on the same side. On Further evaluation, he was diagnosed with inclusion body myositis after muscle biopsy He was then lost to follow up and followed with outside hematologist In February 2020, he developed cytopenias and was referred back to MDACC for management. He was seen and we performed a bone marrow shortly thereafter. He continued to have PMF, molecular, cytogenetics could not be performed on bone marrow due to dry tap. Patient started on "investigational agent. In early 2021 patient started to have orthostatic hypotension and syncope. Serum paraneoplastic antibody panel revealed acetylcholine Receptor Gang Neuronal Ab.The above finding along with his automimic symptoms consists with diagnosis of autoimmune autonomic ganglionopathy. Conclusion Autoimmune autonomic ganglionopathy (AAG) with extra-autonomic manifestations is a very rare and not well known. It is reported before to be associated with solid malignancy, we describe here first association with hematological malignancy which is primary myelofibrosis. We aim to add this to literature, and to increase the knowledge and awareness of both hematologists and neurologists about this association and possible other hematological malignancies may be reported in the future Disclosures Verstovsek: Celgene: Consultancy, Research Funding; CTI BioPharma: Research Funding; Genentech: Research Funding; Promedior: Research Funding; PharmaEssentia: Research Funding; Ital Pharma: Research Funding; Protagonist Therapeutics: Research Funding; Roche: Research Funding; Gilead: Research Funding; Incyte Corporation: Consultancy, Research Funding; NS Pharma: Research Funding; Blueprint Medicines Corp: Research Funding; AstraZeneca: Research Funding; Novartis: Consultancy, Research Funding; Sierra Oncology: Consultancy, Research Funding; Constellation: Consultancy; Pragmatist: Consultancy.

Abstract 1122‐000205: Bilateral ACA Stroke ‐ A Case Report of an Unusual Presentation

Introduction : Bilateral ACA strokes are rare, with one stroke registry reporting 2 cases out of 1490 strokes (1). These strokes are even less common in the absence of anatomic variants, such as an azygos ACA. Diagnosis may be difficult given the variability in clinical presentation. Methods : This is a case report. Results : A 51‐year‐old right handed man with no cerebrovascular risk factors on no antithrombotic medications presented two hours from last known well with complaints of generalized weakness, inability to speak or move, and feeling numb all‐over during intercourse. He reported rapid improvement in symptoms. Emergency room exam was notable for right leg weakness (3/5) and left leg plegia with intact sensation. Hoover’s sign was positive in the left leg and the patient was able to bear some weight while standing with a two‐person assist. A computed tomography angiogram (CTA) of his head and neck was preliminarily interpreted as normal. No azygos ACA or single internal carotid artery origin for the ACAs were present. His exam improved to an isolated left foot dorsiflexor and plantar flexor weakness. The decision was made not to use thrombolytics based on his symptoms and exam which were improving and not entirely consistent with acute stroke. Brain magnetic resonance imaging demonstrated bilateral parasagittal acute strokes. It was later noted the that non‐contrast head CT demonstrated bilateral hyperdense ACAs. Conclusions : This case demonstrates the difficulty in diagnosing bilateral ACA infarcts in a previously healthy adult in the setting of whole‐body numbness and positive Hoover’s sign. In retrospect, his transient inability to speak or move may have been transient akinetic mutism or callosal disconnection syndrome. Additionally, this case emphasizes the importance of evaluating for the hyperdense ACA sign (2) in patients complaining of bilateral leg weakness.

Ascending Painful Paresthesias, Progressive Ataxia, and Bilateral Foot Drop

A 63-year-old woman had development of ascending paresthesias with lancinating and stabbing pain in all extremities. The symptoms began asymmetrically in the left leg and progressed to involve the right leg and both hands. She noticed progressive bilateral leg weakness, gait instability, and new numbness in the left middle back. She had recurrent falls and required the use of a cane and eventually a walker. She had 18.2 kg of weight loss. She had no autonomic symptoms or bladder or bowel dysfunction. Examination 1 year after symptom onset showed an emaciated, ill-appearing woman. On neurologic examination, she had marked gait ataxia with profound proprioceptive loss in all extremities, asymmetrically reduced pinprick sensation distal to the left thigh, right knee, and both forearms, as well as bilateral middle thoracic dermatomes. She had bilateral foot drop and mild weakness in bilateral hamstring and intrinsic hand muscles. Her deep tendon reflexes were globally absent. Toes were mute to plantar stimulation. Magnetic resonance imaging of the entire spine demonstrated subtle increased T2 signal in the posterior columns extending along cervical and thoracic segments and patchy gadolinium enhancement of the cervical and lumbosacral nerve roots. Electrodiagnostic testing demonstrated a length-dependent axonal sensorimotor peripheral neuropathy. Cerebrospinal fluid analysis showed an increased protein concentration, 9 cerebrospinal fluid-restricted oligoclonal bands, increased immunoglobulin G index and synthesis rate, and normal blood cell count. Paraneoplastic antibody evaluation showed high titers of collapsin-response mediator protein 5-immunoglobulin G autoantibodies in the serum and cerebrospinal fluid. Whole-body 18F-fludeoxyglucose–positron emission tomography indicated multiple hypermetabolic mediastinal and hilar lymph nodes. Biopsy of a mediastinal lymph node was consistent with small cell lung carcinoma. The patient was diagnosed with collapsin-response mediator protein 5- immunoglobulin G paraneoplastic myeloneuropathy associated with small cell carcinoma of the lung. The patient received a trial of intravenous methylprednisolone followed by chemotherapy, along with chest and prophylactic brain radiotherapy. She achieved a short period of clinical stabilization and mild improvement in gait and limb ataxia. Subsequently, her ataxia and bilateral leg weakness worsened. Her clinical condition rapidly deteriorated, and she became severely malnourished and bedridden, dying 12 weeks later, 2 years after symptom onset. Collapsin-response mediator protein 5- immunoglobulin G antibodies have been associated with asymmetric, painful polyradiculoneuropathy with coexisting myelopathy, often in the setting of thymoma or small cell lung cancer.

Case Report on Sacroccygeal (Teratomas) Germ Cell Tumor

Sacrococcygeal teratomas are a type of germ cell tumour (GCTs) accounting for 40% of all GCTs of all GCT,s in children. Interestingly 75% occurs in females. Reporting here a case of 3 years old female baby hospitalized for surgical excision of sacrococcygeal teratoma. A female (3-year-old) patient was referred to the pediatric outpatient department at Acharya Vinoba Bhave Rural Hospital Wardha on 19th May 2021. Complaining of swelling on right gluteal region Since 6 month and swelling is increases day by day, pain in back side, fever (Temperature - 101˚F) and tenderness in back side, leg weakness, constipation and she was admitted to Pediatric ward. Surgical excision of sacrocogygeal teratoma was done during her hospitalization. She received one cycle of chemotherapy with antineoplastic medicines. The client discharged after 10 days stay in hospital.

1499 The Statistical Value of Different Clinical Characteristics in Evaluation of Suspected Cauda Equina Syndrome

Introduction Cauda Equina Syndrome(CES) is a potentially disabling condition caused by compression of the thecal sac in the lumbar spine. Traditional teaching suggests red flags include back pain, sciatica, saddle anaesthesia and bladder disturbance. Current guidelines from the British Association of Spinal Surgeons recommend prompt investigation with MRI should these symptoms be present. Method A retrospective electronic case note review was undertaken from a one-year period to identify patients referred to the on call orthopaedic team with suspected CES and were investigated with MRI. Notes were reviewed for the presence of each clinical characteristic and correlated with MRI findings. Results 334 referrals underwent urgent MRI with 25 scans showing CES. Poor statistical association was observed with unilateral leg pain (sensitivity 0.28, specificity 0.48), back pain (sensitivity 0.92, specificity 0.13) and bladder dysfunction (sensitivity 0.72, specificity 0.36). Much closer statistical association was seen with bilateral leg pain (sensitivity 0.6, specificity 0.7, OR 5.03, 95% CI 2.16-11.68, p0.0002), leg weakness (sensitivity 0.68, specificity of 0.72, OR 5.35, 95% CI 2.23-12.85, p0.0002), leg sensory deficit (sensitivity 0.72, specificity 0.60, OR 3.79, 95% CI 1.54-9.36, p0.004) and altered perianal sensation (sensitivity 0.6, specificity 0.67, OR 3.03, 95% CI 1.31-6.99, p 0.009) Conclusions The diagnostic accuracy for some conventional red flag characteristics in CES is low. In our series back pain, unilateral sciatica and bladder disturbance showed low predictive value while bilateral sciatica, saddle anesthesia and lower limb sensorimotor deficits showed closer association and therefore should be closely evaluated for when reviewing such patients.

Cyclophosphamide-Associated Reversible Cerebral Vasoconstriction Syndrome Presenting as Concurrent Cerebral Infarction and Subarachnoid Hemorrhage

Reversible cerebral vasoconstriction syndrome (RCVS) has several trigger factors, including physical exertion, pregnancy, and the intake of vasoconstrictive agents. These triggers activate the sympathetic nervous system and induce vasoconstriction, thereby leading to an ischemic or hemorrhagic stroke. In this study, we describe case of RCVS in a 73-year-old woman who complained of sudden bilateral leg weakness after taking cyclophosphamide for anti-neutrophil cytoplasmic antibody associated vasculitis. She was diagnosed with concurrent cerebral hemorrhage and cerebral infarction with multiple intracranial vasoconstrictions on imaging analyses.

#3106 Limb weakness in the emergency department: a focus on unexplained aetiology presentations

BackgroundFunctional neurological disorder (FND) is a common and potentially disabling neuropsychiatric condition. While its presentation can be extremely diverse, from aphonia to seizure activity, one of the most common symptoms is weakness of one or more limbs. Despite functional weakness being one of the most common presentations seen in neurological practice, little is known about its prevalence in an Emergency Department (ED) setting. Hereby, we aim to describe the demographic and clinical characteristics of patients attending the ED with limb weakness of an unknown and potentially functional aetiology.MethodsWe carried out a retrospective electronic records review of all ED attendances with limb weakness as the presenting complaint, at Kings College Hospital. Patients admitted to the hospital were followed up until the point of discharge. The following clinical and demographic data were analyzed: age, gender, mode of arrival, psychiatric history and clinical diagnosis on discharge. Results: During the 15-month study period, 1340 patients presented with leg weakness at the ED, nearly half of these (47.54%) arrived by ambulance. 4.55% had unexplained weakness with no definite diagnosis on discharge. A significant proportion (62.31%) were admitted for further investigations; 6.35% of these were diagnosed with FND, while a further 25 patients (2.99%) were discharged with suspected FND. Patients with an FND diagnosis had a median age of 45 years; 62.96% were females, and they were significantly younger than male patients with FND (P=0.003). Less than half (44%) of the FND patients had one or more psychiatric diagnoses.DiscussionA diagnosis of functional leg weakness was given to 3.95% (53/1340) of patients presenting with leg weakness in the ED. It is striking that none of these patients were given a diagnosis of FND in the ED, but only after admission to a ward. 6.4% (86/1340) were discharged from the hospital with an unclear diagnosis, 14% of which a functional overlay was suspected. Main limitations of the study: it is retrospective and single-centre.ConclusionThis study highlights difficulties and obstacles in recognising and diagnosing functional presentations of limb weakness in the ED. There is a clear need for optimisation of the classification and coding system of the Emergency Department. Increased awareness and education around FND has the potential to raise diagnostic confidence and significantly improve patient experience and care.

Supratentorial lymphocytic inflammation with parenchymal perivascular enhancement responsive to steroids: A case report and literature review

Background: Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids is a rare disorder that presents with subacute brainstem symptoms such as ataxia, facial paresthesias, and episodic diplopia, thought to be due to a T-cell medicated perivascular inflammatory process. A supratentorial variant, Supratentorial Lymphocytic Inflammation with Parenchymal Perivascular Enhancement Responsive to Steroids (SLIPPERS), has been described in only three patients. Case Description: A 71-year-old male presented with word-finding difficulties, confusion, and left leg weakness. Radiographic workup demonstrated multiple supratentorial ring-enhancing lesions. PET/CT demonstrated hypermetabolism and susceptibility-weighted imaging demonstrated a hemorrhagic component. Frozen pathology revealed a predominately T-cell and monocyte inflammatory infiltrate. He demonstrated interval improvement to dexamethasone therapy, but then demonstrated worsening of his symptoms following discontinuation. Conclusion: Given his dramatic response to corticosteroids, he was diagnosed with SLIPPERS. SLIPPERS is an underrecognized diagnostic entity to consider in patients with ring-enhancing lesions and can present with hypermetabolic lesions on PET/CT.