Mohankumar Kurukumbi

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.

Acute Ischemic Stroke Secondary to Iron Deficiency Anemia: A Case Report

A rare case of acute ischemic stroke in a young patient with iron deficiency anemia (IDA) is reported. IDA has been suggested to have an association with stroke, but few cases have proven it thus far. Three physiological mechanisms explaining IDA to ischemic stroke include a hypercoagulable state secondary to IDA, thrombocytosis secondary to IDA, and anemic hypoxia induced by IDA. Our paper shows an example of a hypoxia-induced stroke secondary to IDA in a young woman with menorrhagia. Thrombus formation was ruled out as the Magnetic Resonance Angiogram (MRA) showed no evidence. As all other known causes for stroke were ruled out, the patients IDA is a reasonable cause for her stroke. Iron deficiency decreases the amount of hemoglobin, which consequently decreases the amount of oxygen in the blood resulting in low-oxygen delivery to the brain. This causes hypoxic conditions in the brain, leading to death of brain tissue. Thus, we suggest a possible relationship between IDA and ischemic stroke in young adults. Considering IDA as one of the risk factors for ischemic stroke and treating with timely transfusions would be an important step one can take to prevent stroke.

A rare case of occipital stroke as a consequence of nonbacterial thrombotic endocarditis in ovarian clear cell carcinoma: a case report.

Hypercoagulability occurs in 15% of patients with malignancy and represents a clinical spectrum ranging from abnormal coagulation tests but no clinically evident thromboembolic disease, to arterial and venous thrombosis, migratory thrombophlebitis, nonbacterial thrombotic endocarditis (NBTE) and disseminated intravascular coagulation. The combination of increased procoagulant activity and decreased fibrinolytic activity accelerates the prothrombotic potential of endothelial cells in malignancy. NBTE is a rare manifestation of cancer-induced hypercoagulability and is commonly seen with mucin-producing adenocarcinomas, but rarely seen with ovarian clear cell carcinoma (OCCC). Cerebrovascular embolization ranges from 14–91% in NBTE. We report a rare case of a 62-year-old female presenting with occipital stroke as a consequence of NBTE in OCCC. Association of NBTE in OCCC has only been reported in 2 cases so far, but presentation with stroke has never been reported in the literature.

Posterior Reversible Encephalopathy Syndrome in a Patient with Newly Diagnosed HIV Infection and End Stage Renal Disease

Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological syndrome in which patients present with an acute or subacute clinical presentation of seizures, visual disturbances, headache, and altered mental status. The pathophysiology of PRES may be explained by endothelial dysfunction that leads to transudation of fluids and protein, resulting in vasogenic cerebral edema. PRES is typically associated with many conditions such as hypertension, uremia, immunosuppressive drugs, and sepsis. This is a case report of a 39-year-old woman with untreated HIV infection and end-stage renal disease (ESRD) who developed PRES with a normal blood pressure and no other known causes of PRES. Untreated HIV is associated with known endothelial dysfunction and we believe that this, in combination with her untreated end-stage renal disease, contributed to her unique presentation of PRES. Although uncommon in HIV-infected patients and challenging to diagnose, prompt recognition of PRES is critical to provide appropriate care and ensure reversibility of the vasogenic edema seen in PRES.

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

IntroductionThe association of thymoma with myasthenia gravis (MG) is well known. Thymoma with sarcoidosis however, is very rare. We presented an interesting case with coexisting thymoma, MG and sarcoidosis.Case presentationA 59-year-old female patient with a history of sarcoidosis was admitted to the hospital with a one-day history of sudden onset of right-sided partial ptosis and diplopia. Neurosarcoidosis with cranial nerve involvement was considered, but was ruled out by the clinical findings, and MG was confirmed by the positive tensilon test, electrophysiological findings and positive acetylcholine receptor binding antibodies. On further evaluation, a CT chest scan showed a left anterior mediastinal mass and bilateral lymphadenopathy. Post surgical diagnosis confirmed the thymoma and sarcoidosis in the lymph nodes.ConclusionWhen two or more diseases of undetermined origin are found together, several interesting questions are raised. It is important to first confirm the diagnoses individually. Immunologic mechanisms triggering the occurrence of these diagnoses together, are difficult to address. Although the coexistence of thymoma, MG and sarcoidosis may be coincidental, it is noteworthy to report this case because of the multiple interesting features observed as well as the rarity of occurrence.

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 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.

Unique presentation of akinetic mutism and coexisting thyroid storm relating to stroke.

Akinetic mutism is described in various clinical presentations but typically is defined as a state wherein the patient appears awake but does not move or speak. It can be divided into two different subtypes; the most common subtypes depend on the lesion location, mesencephalic-diencephalic region, also called apathetic akinetic mutism (somnolent mutism), and those involving the anterior cingulate gyrus and adjacent frontal lobes called hyperpathic akinetic mutism. The pathway of akinetic mutism is believed to originate from circuits that link the frontal and subcortical structures. This case reports a 48-year-old African American female with bilateral anterior cerebral artery stroke and akinetic mutism with coexisting thyroid storm. This patient with bilateral anterior cerebral artery infarcts presented with characteristics that are typical for akinetic mutism such as having intact eye movements but an inability to respond to auditory or visual commands. With the incidence of bilateral anterior cerebral artery (ACA) ischemic stroke being rare and the incidence of akinetic mutism secondary to ischemic stroke even rarer, we suspect that this patient potentially had a unilateral occlusion of anomalous anterior cerebral vasculature.

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 Castlemans 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.

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.