Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is a neurodegenerative disorder caused by a biallelic expansion of pentanucleotide repeats in the RFC1 gene. Previous studies have reported up to 22% of patients with late-onset ataxia harbor this pathogenic repeat expansion. Despite its relatively high prevalence, CANVAS is often underdiagnosed because the disease is not well recognized and genetic testing is not performed in clinical practice. Here, we present a patient with characteristic clinical features, confirmed by genetic testing.

Background/Aims: Portal vein thrombosis (PVT) frequently occurs in patients with inflammatory bowel disease (IBD), particularly when influenced by factors such as abdominal infections, IBD flare-ups, or surgical procedures. The implications of PVT range from immediate issues such as intestinal ischemia to long-term concerns including portal hypertension and its complications. However, there is a notable gap in comprehensive studies on PVT in IBD, especially with the increasing incidence of IBD in Asia. This research aimed to evaluate the clinical features and outcomes of PVT in patients with IBD at a leading hospital in South Korea. Methods: This retrospective analysis reviewed adult patients diagnosed with both IBD and PVT from 1989 to 2021 at a renowned South Korean medical center. The study focused on patient characteristics, specifics of PVT, administered treatments, and outcomes, all confirmed through enhanced CT scans. Results: A total of 78 patients met the study’s criteria. Notably, only 20.5% (16/78) were treated with oral anticoagulants; however, a vast majority (96.2%; 75/78) achieved complete radiographic resolution (CRR). When comparing patients receiving anticoagulants to those who did not, a significant preference for anticoagulant use was observed in cases where the main portal vein was affected, as opposed to just the left or right veins (p = 0.006). However, multivariable analysis indicated that neither anticoagulant use nor previous surgeries significantly impacted CRR. Conclusions Patients with IBD and PVT generally had favorable outcomes, regardless of anticoagulant use.

Progesterone hypersensitivity is mediated by type I, III, and IV hypersensitivity reactions to endogenous or exogenous progesterone, involving autoimmune mechanisms in females of reproductive age. It presents with a range of dermatologic manifestations, most commonly urticaria, angioedema, eczema, and maculopapular rashes. Systemic and severe symptoms, such as generalized erythema multiforme or lesions resembling severe cutaneous adverse reactions, have rarely been reported. We describe a case of a 42-year-old woman who developed drug reaction with eosinophilia and systemic symptoms (DRESS) following exogenous progesterone therapy administered for assisted reproduction. She received high-dose subcutaneous progesterone and vaginal tablets. Despite this being her first procedure, she achieved pregnancy. However, at 8 weeks of gestation and during the third month of progesterone treatment, she developed generalized erythema multiforme, pruritus, and high-grade fever. Her laboratory findings showed increased blood eosinophil counts and inflammatory markers. After oral corticosteroid (OCS) treatment for several weeks, her skin lesions were partially improved. However, after tapering of OCS, her skin lesions were aggravated with increased blood eosinophil counts. Despite daily OCS (prednisolone, 12.5–60 mg/day) treatment after childbirth, her skin symptoms and eosinophilia persisted. Reslizumab treatment was also attempted, but only the eosinophilia resolved. These clinical findings were much improved after Janus kinase (JAK) inhibitor (upadacitinib 15 mg/day) treatment; consequently, OCS was stopped. Here, we report a case of relapsing DRESS triggered by exogenous progesterone, which has been controlled by JAK inhibitor treatment.

Progesterone hypersensitivity is mediated by type I, III, and IV hypersensitivity reactions to endogenous or exogenous progesterone, involving autoimmune mechanisms in females of reproductive age. It presents with a range of dermatologic manifestations, most commonly urticaria, angioedema, eczema, and maculopapular rashes. Systemic and severe symptoms, such as generalized erythema multiforme or lesions resembling severe cutaneous adverse reactions, have rarely been reported. We describe a case of a 42-year-old woman who developed drug reaction with eosinophilia and systemic symptoms (DRESS) following exogenous progesterone therapy administered for assisted reproduction. She received high-dose subcutaneous progesterone and vaginal tablets. Despite this being her first procedure, she achieved pregnancy. However, at 8 weeks of gestation and during the third month of progesterone treatment, she developed generalized erythema multiforme, pruritus, and high-grade fever. Her laboratory findings showed increased blood eosinophil counts and inflammatory markers. After oral corticosteroid (OCS) treatment for several weeks, her skin lesions were partially improved. However, after tapering of OCS, her skin lesions were aggravated with increased blood eosinophil counts. Despite daily OCS (prednisolone, 12.5–60 mg/day) treatment after childbirth, her skin symptoms and eosinophilia persisted. Reslizumab treatment was also attempted, but only the eosinophilia resolved. These clinical findings were much improved after Janus kinase (JAK) inhibitor (upadacitinib 15 mg/day) treatment; consequently, OCS was stopped. Here, we report a case of relapsing DRESS triggered by exogenous progesterone, which has been controlled by JAK inhibitor treatment.

Purpose: Inotuzumab ozogamicin (INO) has demonstrated a safe bridging role to allogeneic hematopoietic stem cell transplantation (HSCT) in patients with relapsed or refractory B-cell acute lymphoblastic leukemia (R/R B-ALL). How‑ ever, hepatic veno-occlusive disease/sinusoidal obstruction syndrome (VOD/SOS) is frequently observed. This study aimed to identify significant features of INO-associated VOD/SOS. Methods: We reviewed seven cases of hepatic VOD/SOS that developed either during INO salvage or after alloge‑ neic HSCT following INO-induced complete remission (CR). Diagnosis and severity grading of VOD/SOS were based on the revised criteria from the European Society for Blood and Marrow Transplantation. Defibrotide was used to treat severe to very severe cases. Results: Four patients developed VOD/SOS during INO salvage therapy (at 21 and 36 days post-INO1, 77 days postINO3, and 21 days post-INO5), while three were diagnosed at 2, 5, and 10 days post-HSCT following INO-induced CR.Doppler ultrasonography revealed preserved portal vein flow (range 10.2–26.0 cm/sec) and normal hepatic artery resistive index (RI, range 0.56–0.74) in all but one patient (RI 0.83). Despite this, all patients presented with massive ascites and progressively elevated total bilirubin levels. All cases were classified as severe to very severe; six were treated with defibrotide and one underwent liver transplantation. Most patients ultimately died owing to VOD/SOS progression. Conclusion Post-INO VOD/SOS manifested as two different clinical settings and was characterized by preserved portal vein flow, which complicated diagnosis. Despite timely defibrotide administration, clinical outcomes were poor.These findings emphasize the need for vigilance and potential consideration of prophylactic strategies for prevention of INO-associated VOD/SOS.

Background/Aims: Portal vein thrombosis (PVT) frequently occurs in patients with inflammatory bowel disease (IBD), particularly when influenced by factors such as abdominal infections, IBD flare-ups, or surgical procedures. The implications of PVT range from immediate issues such as intestinal ischemia to long-term concerns including portal hypertension and its complications. However, there is a notable gap in comprehensive studies on PVT in IBD, especially with the increasing incidence of IBD in Asia. This research aimed to evaluate the clinical features and outcomes of PVT in patients with IBD at a leading hospital in South Korea. Methods: This retrospective analysis reviewed adult patients diagnosed with both IBD and PVT from 1989 to 2021 at a renowned South Korean medical center. The study focused on patient characteristics, specifics of PVT, administered treatments, and outcomes, all confirmed through enhanced CT scans. Results: A total of 78 patients met the study’s criteria. Notably, only 20.5% (16/78) were treated with oral anticoagulants; however, a vast majority (96.2%; 75/78) achieved complete radiographic resolution (CRR). When comparing patients receiving anticoagulants to those who did not, a significant preference for anticoagulant use was observed in cases where the main portal vein was affected, as opposed to just the left or right veins (p = 0.006). However, multivariable analysis indicated that neither anticoagulant use nor previous surgeries significantly impacted CRR. Conclusions Patients with IBD and PVT generally had favorable outcomes, regardless of anticoagulant use.

Background/Aims: Portal vein thrombosis (PVT) frequently occurs in patients with inflammatory bowel disease (IBD), particularly when influenced by factors such as abdominal infections, IBD flare-ups, or surgical procedures. The implications of PVT range from immediate issues such as intestinal ischemia to long-term concerns including portal hypertension and its complications. However, there is a notable gap in comprehensive studies on PVT in IBD, especially with the increasing incidence of IBD in Asia. This research aimed to evaluate the clinical features and outcomes of PVT in patients with IBD at a leading hospital in South Korea. Methods: This retrospective analysis reviewed adult patients diagnosed with both IBD and PVT from 1989 to 2021 at a renowned South Korean medical center. The study focused on patient characteristics, specifics of PVT, administered treatments, and outcomes, all confirmed through enhanced CT scans. Results: A total of 78 patients met the study’s criteria. Notably, only 20.5% (16/78) were treated with oral anticoagulants; however, a vast majority (96.2%; 75/78) achieved complete radiographic resolution (CRR). When comparing patients receiving anticoagulants to those who did not, a significant preference for anticoagulant use was observed in cases where the main portal vein was affected, as opposed to just the left or right veins (p = 0.006). However, multivariable analysis indicated that neither anticoagulant use nor previous surgeries significantly impacted CRR. Conclusions Patients with IBD and PVT generally had favorable outcomes, regardless of anticoagulant use.

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is a neurodegenerative disorder caused by a biallelic expansion of pentanucleotide repeats in the RFC1 gene. Previous studies have reported up to 22% of patients with late-onset ataxia harbor this pathogenic repeat expansion. Despite its relatively high prevalence, CANVAS is often underdiagnosed because the disease is not well recognized and genetic testing is not performed in clinical practice. Here, we present a patient with characteristic clinical features, confirmed by genetic testing.