Internal medicine
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Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare disease associated with the presence of anti-glycine receptor (GlyR) antibodies. We herein report an autopsy case of an 80-year-old man diagnosed with anti-GlyR antibody-positive PERM who presented with symptoms of oculomotor dysfunction and autonomic failure. ⋯ Postmortem pathology revealed mild inflammatory changes and neuronal loss that were disproportionate to a severe clinical presentation. These results suggest that the clinical symptoms of PERM may result from antibody-mediated GlyR internalization, leading to neuronal disinhibition, rather than a neuroinflammatory signature.
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Spontaneous abdominal wall hematoma is a relatively uncommon condition triggered by various factors, including anticoagulation therapy and trauma. However, reports of unprovoked cases without anticoagulants that recur shortly after treatment are limited. ⋯ This case highlights the possibility that patients with underlying predisposing factors may experience early hematoma recurrence at the same site, even in the absence of apparent triggers. Clinicians should monitor these patients to promptly identify and address potential recurrences.
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Immune checkpoint inhibitors (ICIs) can cause immune-related adverse events (irAEs). There are a few case reports of remitting seronegative symmetrical synovitis with pitting edema syndrome (RS3PE) as an irAE. ⋯ The patient's lung cancer was in complete remission, leading to the diagnosis of RS3PE induced by pembrolizumab rather than malignancy. When patients show RS3PE during ICI treatment, rheumatologists should consider the possibility of an irAE after excluding malignancy and systemic diseases.
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Case Reports
A Case of Autoimmune Hepatitis Complicated by Undiagnosed Factor VII Deficiency: A Pitfall of Coagulopathy.
Prothrombin time (PT) is a key parameter for assessing the severity of liver disease. We present the case of a 37-year-old woman with severe acute liver injury due to autoimmune hepatitis. ⋯ Further examinations of her coagulopathy revealed that she had low factor VII activity, suggesting a diagnosis of factor VII deficiency. Our experience suggests that altered coagulopathy should be considered in cases of liver injury with an extraordinary PT.