ABSTRACT
Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune condition characterized by recurrent episodes of optic neuritis (ON) and transverse myelitis. This case report aims to highlight the importance of considering atypical presentations of NMOSD when confronted with MRI-detected Wernicke's encephalopathy. The primary target in NMOSD is the aquaporin-4 (AQP4) protein, predominantly located on astrocyte surfaces. Antibodies binding to AQP4 can lead to astrocyte dysfunction and damage, contributing to NMOSD's distinctive pathology. The associated immune response and inflammation can cause secondary harm to various components of the central nervous system, including oligodendrocytes and neuronal axons. This inflammatory process results in perivascular demyelination and axonal injury, further aggravating neurological deficits in NMOSD. In this case, we present a 39-year-old female with no prior medical or surgical history who sought medical attention due to a three-week history of progressive eyelid heaviness and somnolence. NMOSD is an autoimmune condition primarily targeting the AQP4 protein, resulting in recurrent ON and transverse myelitis. The patient was initially misdiagnosed with myasthenia gravis due to somnolence and ptosis. Due to concerns about myasthenia gravis due to diffuse fatigue and bilateral ptosis, the patient was initially treated with intravenous immunoglobulin (IVIG) and admitted to the neurology service. On the first day of her hospitalization, MRI with and without contrast revealed extensive, non-enhancing T2-weighted-fluid-attenuated inversion recovery (T2-FLAIR) hyperintensities surrounding the third ventricle and affecting the periaqueductal grey, medial thalami, and mammillary bodies. There was also an interval increase in T2-FLAIR hyperintensity within the right medial temporal lobe, extending more posteriorly and inferiorly, abutting the temporal horn. Subsequent CSF encephalitis panel results showed positive West Nile virus (WNV) IgG but negative WNV IgM, and AQP4 antibodies were positive. Given the high specificity of AQP4 antibodies, the patient was diagnosed with neuromyelitis optica (NMO) encephalitis. This case underscores the importance of considering atypical presentations of NMO when confronted with MRI-detected Wernicke's encephalopathy. Since our patient primarily displayed somnolence and eye-related symptoms, neither NMO nor Wernicke's encephalopathy were initially considered in the differential diagnosis. Furthermore, despite MRI findings suggestive of Wernicke's encephalopathy, it was considered less likely due to the absence of thiamine deficiency and consistent denials by family members regarding alcohol use, gastrointestinal issues, or inadequate oral intake. This case underscores the importance of considering NMOSD in patients with atypical symptoms, even when initial presentations suggest other conditions. Timely diagnosis is crucial to prevent mismanagement and improve patient outcomes. Clinicians should maintain a high level of suspicion for NMOSD, especially when MRI findings do not align with the initial diagnosis, as early recognition and treatment can significantly impact patient care and prognosis.
ABSTRACT
Takayasu's arteritis (TA) is a rare inflammatory disorder that affects large arteries, particularly the aorta and its main branches. TA is also known as a pulseless disease because it diminishes blood flow to the limbs and organs. The patient was a 17-year-old female whose prior medical history included a diagnosis of TA. She had been experiencing multiple syncopal episodes up to three times daily, lasting 10 seconds each. She was being managed outpatient with immunologic therapy and warfarin. She initially presented to a children's hospital with abdominal pain and an asymmetrical smile and was found to have a ruptured ovarian cyst. This case demonstrated that life-threatening complications of TA can occur as a result of otherwise unrelated and common circumstances. The patient was managed medically and then proceeded to surgery. The case further highlights the multidisciplinary team approach between medical and surgical specialties and weighing the risks and benefits of complications for the patient's long-term care. Early diagnosis and prompt initiation of appropriate therapy are essential for better outcomes. Clinicians should be aware of the nonspecific symptoms of TA and consider it in the differential diagnosis of young patients presenting with systemic symptoms and arterial insufficiency. The initial presentation of middle cerebral artery stroke in young women has been documented in prior literature, but most published cases present the medical management of the disease. Our patient's case was unique because medical management was insufficient, with surgical management pursued due to persistent symptomatic hypotension. The inciting event of this case, an ovarian rupture with retroperitoneal hemorrhage, represents a unique burden to watershed infarctions in this patient group. Further research is needed to understand the pathogenesis of TA better and to develop more effective treatment strategies for this challenging disease.
ABSTRACT
Blood paper cards provide an effective DNA storage method. In this study, we used three DNA dissolving reagents (Tris-EDTA [TE] buffer, Tris-HCl buffer, and water) and one common commercially available kit (DN131 from MRC Inc) to elute DNA from 105 human blood paper cards collected up to 10 years ago. These DNA samples were used as templates for amplification of a single nucleotide polymorphism (SNP, C125T) region of human caspase-12 by PCR and a specific Taqman genotyping assay using the same amount of DNA. We show that DNA isolated by Tris-HCl buffer has higher yield and quality in comparison to DN131 solution. PCR success rate to amplify caspase-12 C125T SNP using Tris-HCl is comparable to the method using DN131 (89.5% vs 87.6%). The Taqman genotyping success rate using Tris-HCl is higher than using DN131 (81.9% vs 70.5%). Using TE or water, PCR success rates are lower than using DN131 (73.3% [TE]; 72.4% [H2O]), but Taqman genotyping success rates are comparable to the method using DN131 (70.5% [TE]; 79.1% [H2O]). We concluded that using Tris-HCl is a reliable and effective method to elute DNA from old human blood paper cards. The crude DNA isolated by Tris-HCl can be used to study genetic polymorphisms in human populations.
