Myasthenia Gravis: A Review

Acquired myasthenia gravis is a relatively uncommon disorder, with prevalence rates that have increased to about 20 per 100,000 in the US population. This autoimmune disease is characterized by muscle weakness that fluctuates, worsening with exertion, and improving with rest. In about two-thirds of the patients, the involvement of extrinsic ocular muscle presents as the initial symptom, usually progressing to involve other bulbar muscles and limb musculature, resulting in generalized myasthenia gravis. Although the cause of the disorder is unknown, the role of circulating antibodies directed against the nicotinic acetylcholine receptor in its pathogenesis is well established. As this disorder is highly treatable, prompt recognition is crucial. During the past decade, significant progress has been made in our understanding of the disease, leading to new treatment modalities and a significant reduction in morbidity and mortality

A Rare Case of Subependymoma with an Atypical Presentation: A Case Report

A rare case of subependymoma in a young patient presenting with sensory dysesthesia is reported. Computed tomography scan and magnetic resonance imaging revealed a posterior fossa mass occluding the fourth ventricle with infiltration to the right side immediately behind the pontine tegmentum and impinging on the right spinothalamic tract. Postoperative tumor histopathology revealed the classical appearance of subependymoma. Subependymoma is a rare, asymptomatic, slow-growing, low-grade glioma of the central nervous system. If symptomatic, the clinical features are commonly secondary to hydrocephalus, but subependymoma presenting with sensory dysesthesia has never been reported in the literature

Rare association of thymoma, myasthenia gravis and sarcoidosis : a case report

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Recurrent Occipital Seizures with Transient MRI Changes

Peri-ictal magnetic resonance imaging (MRI) findings following seizure activity are a recognized phenomenon that is not well understood (Cole, 2004). Transient changes are not usually expected to be present in postictal MRI studies because of their rarity. Here, we present a unique case of peri-ictal MRI findings located in the occipital lobe, present in a 34-year-old female with recurrent occipital seizures occurring twice in four years. MRI changes completely resolved after both episodes with no residual focal damage. The peri-ictal occipital changes on MRI in this patient are unique because they have been captured on more than one occasion. Peri-ictal MRI findings are a known phenomenon with unknown pathophysiology, although attempts have been made to understand these findings. Though the MRI findings and presentation appear to be stroke-like or PRES-like, seizures should be kept in the differential for better treatment outcomes

A Rare Sequela of Acute Disseminated Encephalomyelitis

Acute disseminated encephalomyelitis is a demyelinating disease, typically occurring in children following a febrile infection or a vaccination. Primary and secondary immune responses contribute to inflammation and subsequent demyelination, but the exact pathogenesis is still unknown. Diagnosis of acute disseminated encephalomyelitis is strongly suggested by temporal relationship between an infection or an immunization and the onset of neurological symptoms. Biopsy is definitive. In general, the disease is self-limiting and the prognostic outcome is favorable with anti-inflammatory and immunosuppressive agents. Locked-in syndrome describes patients who are awake and conscious but have no means of producing limb, speech, or facial movements. Locked-in syndrome is a rare complication of acute disseminated encephalomyelitis. We present a case of incomplete locked-in syndrome occurring in a 34-year-old male secondary to acute disseminated encephalomyelitis. Our case is unique, as acute disseminated encephalomyelitis occurred in a 34-year-old which was poorly responsive to immunosuppression resulting in severe disability

Rituximab for Autoimmune Encephalitis with Epilepsy

Intractable epilepsy remains a significant medical challenge, resulting in recurrent and prolonged intensive care unit (ICU) admissions. Autoimmune encephalitis is emerging as a treatable cause of intractable epilepsy. It is characterized by antibodies against cerebral antigens, such as potassium channels such as leucine-rich, glioma inactivated 1 (LGI1) and contactin-associated protein 2 (CASPR2), calcium channels such as the voltage-gated calcium channel (VGCC), or neurotransmitter receptors such as the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR), gamma aminobutyric acid receptor (GABAR), and N-methyl-D-aspartate receptor (NMDAR). Diagnosis requires a syndrome consistent with an antibody identified in serum or cerebrospinal fluid (CSF) using methods that minimize risk of false-positives. Although there is no officially approved therapy for these disorders, typical approaches involve chronic high-dose steroids, intravenous immunoglobulin (IVIG), or plasma exchange. Rituximab is effective for antibody-associated disorders such as lupus, myasthenia gravis, and neuromyelitis optica. Here, we present three patients who were admitted with recalcitrant status epilepticus and demonstrated serum antibodies against NMDAR, LGI1, or VGCC using a cell-based assay. All patients demonstrated complete, long-term epilepsy control and improvement in symptoms with rituximab

Myasthenia Gravis Presenting Like Guillain-Barré Syndrome

Myasthenia gravis (MG) is an autoimmune disorder characterized by weakness in specific muscle groups, especially the ocular and bulbar muscles. Guillain-Barré syndrome (GBS) presents with ascending paralysis and areflexia, often secondary to an infection. Several theories have been proposed regarding the etiology behind GBS, with many studies pointing to a possible autoimmune cause. If this is in fact true, it is also possible that the two diseases may develop concurrently. While this is unusual, several recently published studies highlight such cases of concurrent MG and GBS. This co-occurrence could involve certain common proteins, as the two diseases can present somewhat similarly. This is an unusual case of a patient with no significant past medical history, presenting with generalized weakness and symptoms of new-onset diabetes, who developed bilateral ptosis, distal weakness, and areflexia while in the hospital, raising the possibility of concurrent MG and GBS. Although the diagnosis of MG was confirmed by the positive anticholinesterase antibodies and tensilon test, several features, including sudden onset of ascending paralysis and areflexia, were more common in GBS than MG. It is possible, albeit rare, that these two syndromes could have developed concurrently and that the untreated diabetes mellitus could have contributed to the neurological symptoms. This case is reported because of the rarity of its features, diagnostic and management challenges

A Rare Case of Immune Reconstitution Inflammatory Syndrome Development in an Immunocompromised Patient with Progressive Multifocal Leukoencephalopathy and Multicentric Castleman’s Disease

Immune reconstitution inflammatory syndrome (IRIS) development in HIV with preexistent progressive multifocal leukoencephalopathy (PML) has been extensively studied. PML-IRIS typically manifests clinically as new or worsening neurologic symptoms in conjunction with enlarging CNS lesions and occurs in approximately 10–20 percent of HIV-infected patients with PML who begin HAART. Likewise, Multicentric Castleman’s Disease (MCD), a rare malignant lymphoproliferative disorder, has a strong and well-known association with HIV. Our case provides a rare instance of PML-IRIS in combination with MCD in an HIV-positive individual. The combination of all three diseases has never been reported in the literature. Both MCD and PML were present during initial determination of HIV infection in our patient and their disease courses were altered during the subsequent development of IRIS