On the Nose: Anti-MDA-5 Dermatomyositis Manifesting as Perinasal Swelling

The clinical presentation of dermatomyositis (DM) is diverse, with varied phenotypes that may be correlated with specific autoantibodies. The anti-melanoma differentiation-associated gene 5 (MDA5) antibody in DM is associated with an amyopathic phenotype of DM, with several unusual cutaneous manifestation and increased risk for rapidly progressive interstitial lung disease. Initial presentation may be subtle, but early diagnosis is key to initiation of proper immunosuppressive therapy. In this report, we describe perinasal edema and erythema as a presenting complaint of anti-MDA5 DM in an otherwise healthy 40-year-old woman. The edema began shortly after heavy sun exposure and was followed by painful papules in her hands and arthritis within a few weeks. She was found to have high titer of anti-CCP and anti-MDA5, and thus was diagnosed with DM and rheumatoid arthritis overlap. A CT chest, abdomen, and pelvis showed patchy ground-glass and interstitial opacities in bilateral lower lobes consistent with mild interstitial lung disease without evidence of malignancy. Perinasal cutaneous findings and arthralgias improved with initiation of prednisone. To our knowledge, this is the first report of perinasal edema as a presenting symptom for DM and should raise suspicion for MDA-5 disease.

Congress of Neurological Surgeons Systematic Review and Evidence-based Guidelines Update on the Role of Neuropathology in the Management of Progressive Glioblastoma in Adults

Target population These recommendations apply to adult patients with progressive or recurrent glioblastoma (GBM).QuestionFor adult patients with progressive glioblastoma does testing for Isocitrate Dehydrogenase (IDH) 1 or 2 mutations provide new additional management or prognostic information beyond that derived from the tumor at initial presentation?RecommendationLevel III: Repeat IDH mutation testing is not necessary if the tumor is histologically similar to the primary tumor and the patient’s clinical course is as expected. Question For adult patients with progressive glioblastoma does repeat testing for MGMT promoter methylation provide new or additional management or prognostic information beyond that derived from the tumor at initial presentation and what methods of detection are optimal?Recommendation Level III: Repeat MGMT promoter methylation is not recommended. Question For adult patients with progressive glioblastoma does EGFR amplification or mutation testing provide management or prognostic information beyond that provided by histologic analysis and if performed on previous tissue samples, does it need to be repeated?RecommendationLevel III: In cases that are difficult to classify as glioblastoma on histologic features EGFR amplification testing may help in classification. If a previous EGFR amplification was detected, repeat testing is not necessary. Repeat EGFR amplification or mutational testing may be recommended in patients in which target therapy is being considered.Question For adult patients with progressive glioblastoma does whole genome or large panel sequencing provide management or prognostic information beyond that derived from histologic analysis?RecommendationLevel III: Primary or repeat whole genome or large panel sequencing may be considered in patients who are eligible or interested in molecularly guided therapy or clinical trials.QuestionFor adult patients with progressive glioblastoma should immune checkpoint biomarker testing be performed to provide management and prognostic information beyond that obtained from histologic analysis?RecommendationLevel III: The current evidence does not support making PD-L1 or mismatch repair (MMR) enzyme activity a component of standard testing.QuestionFor adult patients with progressive glioblastoma are there meaningful biomarkers for bevacizumab responsiveness and does their assessment provide additional information for tumor management and prognosis beyond that learned by standard histologic analysis?RecommendationLevel III: No established Bevacizumab biomarkers are currently available based upon the inclusion criteria of this guideline.

Potential use of dimensionhydrinate/cinnarizine combination in the treatment of vertigo

Vertigo is a fairly common complaint with which patients present to physicians of various profiles, and especially to general practitioners, neurologists, and otorhinolaryngologists. Vertigo is a condition where a person has the illusion of movement or of surrounding objects moving when they are not. Vertigo is a symptom of a wide range of diseases, both benign and life-threatening. Vertigo can have a variety of causes, and the suggested treatment should depend on the cause. Due to the multifactorial etiology of medical care, many patients receive inadequate treatment under the primary healthcare scheme, especially during initial presentation. The main causes of vertigo are benign paroxysmal positional vertigo, Meniere’s disease, vestibular neuritis, vestibular migraine, and cerebrovascular diseases. Patients with other disorders, such as depression and hyperventilation syndrome, may present with complaints of nonrotary vertigo. Differential diagnosis of vertigo can be made using easy-to-perform tests during physical examination, including assessment of nystagmus, Dix-Hallpike maneuver, and blood pressure measurements with head-up tilt table tests. Treatment of patients with complaints of vertigo includes drug and non-drug therapy, depending on the established nosological form. However, due to the multifactorial etiology, many patients receive inadequate treatment under the primary healthcare scheme, especially during initial presentation. The dimensionhydrinate/cinnarizine combination is one of the drugs for the symptomatic treatment of vertigo of various origins in adults.

Kawasaki Shock Syndrome with Initial Presentation as Neck lymphadenitis: A Case Report

Kawasaki disease (KD) is an acute systemic vasculitis of unknown cause that mainly affects infants and children and can result in coronary artery complications if left untreated. A small subset of KD patients with fever and cervical lymphadenitis has been reported as node-first-presenting KD (NFKD). This type of KD commonly affects the older pediatric population with a more intense inflammatory process. Considering its unusual initial presentation, a delay in diagnosis and treatment increases the risk of coronary artery complications. Herein, we report the case of a 9-year-old female with fever and neck mass that rapidly deteriorated to shock status. A diagnosis of KD was made after the signs and symptoms fulfilled the principal diagnostic criteria. The patient’s heart failure and blood pressure improved dramatically after a single dose of intravenous immunoglobulin. This case reminds us that NFKD could be the initial manifestation of KDSS, which is a potentially fatal condition. We review the literature to identify the overlapping characteristics of NFKD and KDSS, and to highlight the importance of early recognition of atypical KD regardless of age. We conclude that unusually high C-reactive protein, neutrophilia, and thrombocytopenia serve as supplemental laboratory indicators for early identification of KDSS in patients with NFKD.

Pneumorrhachis: A Rare Prognostic Lesson

Objective: We present a case of poly-traumatic epidural pneumorrhachis of an 87-year-old gentleman who had unremarkable neurology on presentation. We give an overview of aetiology and indications for intervention in pneumorrhachis. Background: Pneumorrhachis is the presence of air within the spinal canal, aetiologically it is widely variable though its observation in practice is rare. Methods: Descriptive. Results: We show figures illustrating CT images of pneumorrhachis at C3/4 level. The patient underwent progressive neurological deterioration over the course of four days on intensive care, and subsequently passed away. Conclusion: The presence of pneumorrhachis is well known to be associated with poor prognosis, and in our case predicted his subsequent neurological decline despite initial presentation. The presence of pneumorrhachis also serves as an important clue for hidden injuries.