Current Issue

Background: Brain and spine MRI in NMOSD is well described in the diagnostic criteria of Wingherchuk 2015 criteria. However, despite this the pattern of lesion remains incomprehensive.
Case presentation: We report the case of a 65-year-old female with acute onset of drowsiness, dysphagia, aphasia and respiratory distress. Brain and spine MRI showed extensive white matter lesions in subcortical area and cystic lytic patchy lesions in spine. Extensive blood work up was conclusive of anti AQP4 IgG positive suggestive of NMOSD.
Conclusion: The bilateral extensive white matter lesions (EWML) are rare presentation in NMO disorders which may mimic adult leukodystrophy. This feature can be considered as a radiological marker for future references.  

Backgound: Myositis is characterized by proximal muscle weakness/ pain and can affect other organs, with skin involvement being common. Most cases are idiopathic, however it may be part of an autoimmune disease or paraneoplastic syndrome.

Case Report: We present an 82-year-old woman admitted for productive cough, fever and hypoxemia. Blood tests showed important rhabdomyolysis and mild C-reative protein increase. Community-acquired pneumonia was assumed and antibiotic therapy was started. Due to the lack of clinical improvement, a thoracic computed tomography was performed, which revealed not only interstitial lung disease, but also a left breast nodule. Breast nodule biopsy showed breast carcinoma. Staging was carried out with the absence of metastases and the diagnosis of Paraneoplastic Myositis with pulmonary involvement was assumed. Hormone therapy was initiated, followed by left mastectomy. Complete clinical recovery of the patient was obtained.

Conclusions: Interstitial lung disease is the most common and serious complication of inflammatory muscle disease. Complete clinical remission after removal of the neoplasm supported the diagnosis of paraneoplastic syndrome, and the patient continued with hormone therapy after surgery.

ABSTRACT

Background: Autoimmune hemolytic anemia (AIHA) is a rare but increasingly recognized complication of COVID-19. We present a unique case of severe cold AIHA (cAIHA) in the setting of concurrent COVID-19 infection that exhibited a relapsing course requiring rescue therapy.

Case Presentation:  A 73-year-old male with chronic obstructive pulmonary disease who presented with worsening cough and dyspnea was found to have acute COVID-19 infection. Laboratory investigations revealed severe anemia, elevated lactate dehydrogenase (LDH), low haptoglobin, reticulocytosis, and positive direct antiglobulin test (DAT) with cold agglutinin titers, consistent with cAIHA. Extensive infectious, autoimmune, and malignancy workup was unremarkable. He was initially managed with corticosteroids, folic acid, and weekly rituximab. While symptoms improved temporarily, he experienced hemolytic relapse, necessitating rescue plasmapheresis and transfusion support. Hematologic parameters stabilized, and he was asymptomatic with no evidence of hemolysis at three-month follow-up.

Conclusion: COVID-19 may trigger cold AIHA through immune dysregulation and complement activation. Diagnosing cAIHA in COVID-19 is complex due to overlapping features and high DAT positivity rates without active hemolysis. This case underscores the importance of individualized management, balancing immunosuppression and supportive care. Further research is needed to understand the pathogenesis and optimal treatment strategies for COVID-19-associated cAIHA.

Background

Muir-Torre Syndrome (MTS) is an infrequent autosomal-dominant genodermatosis characterized by the presence of sebaceous tumors and visceral malignancies. These tumors typically manifest as sebaceous adenomas, epitheliomas, or carcinomas. Colorectal cancer is the most prevalent internal malignancy linked with MTS. The syndrome stems from germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1, aligning it with Lynch syndrome, also recognized as hereditary nonpolyposis colorectal cancer. Lynch syndrome involves inherited deficiencies in DNA mismatch repair genes, resulting in microsatellite instability.

Case Presentation

In this report, we describe the case of a 54-year-old man diagnosed with sebaceous adenomas. Given his family's history of colorectal cancer, genetic screening for hMSH2 genes was recommended. Molecular gene sequencing revealed two heterozygous deletion mutations in exon 7 and 9 of the hMSH2 gene in the patient.

Conclusion

This case underscores the significance of a multidisciplinary care approach, comprehensive medical history assessment, and timely identification of high-risk individuals. Such measures facilitate appropriate screening and surveillance, thereby mitigating the morbidity and mortality associated with this syndrome.

Introduction

The diagnosis of functional movement disorders including Astasia-abasia is always a challenge even with seasoned clinicians due to a tendency to border on caution to avoid missing potentially life threatening structural neurological disorders leading to delays in diagnosis. Chronicity of symptoms, a guarded prognosis and eventual physical conditioning pose treatment challenges.

Case presentation

We present a case of a 69-year-old Caucasian man with past medical history of essential hypertension, well controlled type II diabetes mellitus, hyperlipidemia and generalized anxiety disorder who was evaluated in three hospital systems for what he described as ‘difficulty standing in one position’ and later gait disturbances that was incongruent with findings on neurological examination and well as imaging, nerve conduction studies and electromyography. We describe his clinical course to becoming wheelchair bound eventually having multiple hospital admissions due to life threatening complications of immobility including decubitus ulcers, sepsis and rhabdomyolysis leading to acute kidney injury.

Discussion

The presented case of Astasia-abasia highlights diagnostic challenges involving repetition of diagnostic tests as patients move from one hospital system to another, as well as unpredictability of treatment response and the potential for severe physical deconditioning leading to medical complications of immobility.