SEZ6L2 Antibody–Associated Cerebellar Ataxia Responsive to Sequential Immunotherapy

ObjectivesSeizure-related 6 homolog like 2 (SEZ6L2) antibody–associated ataxia is an extremely rare disease. Six patients have been reported and none of them improved significantly with immunotherapy. Herein, we present the case of a patient with cerebellar ataxia and SEZ6L2 antibodies who benefited from immunotherapy, which dramatically altered the course of her disease.MethodsWe present a case report of a 73-year-old woman with progressive balance problems. Her condition had rapidly deteriorated in the 2 weeks before the admission to our hospital leading to repeated falls and eventually left her bed-ridden.ResultsShe presented with severe trunk ataxia, bidirectional nystagmus, dysarthric speech, and persistent nausea. With the exception of cerebellar atrophy, extensive imaging studies revealed no pathology. SEZ6L2 antibodies were found in both CSF and serum. Over a period of 9 months, our patient received immunotherapy consisting of steroid pulse therapy, IV immunoglobulin infusions, rituximab, and cyclophosphamide. Consequently, her condition improved markedly, and she was discharged home from the neurologic rehabilitation unit.DiscussionOur case report shows that intense sequential immunotherapy may considerably improve level of functioning in some patients with SEZ6L2 antibody–associated cerebellar ataxia.Classification of EvidenceThis provides Class IV evidence. It is a single observational study without controls.

Clinical characteristics of patients with subacute thyroidits and factors affecting development hypothyroidism after subacute thyroiditis

IntroductionSubacute thyroiditis (SAT) is typically a self-limiting, inflammatory disease. Patients can experience hypothyroidism during or after an episode. We examined the clinical characteristics based on laboratory and imaging studies in patients with SAT and possible factors contributing to the development of permanent hypothyroidism after SAT.Material and methodsWe retrospectively examined medical records of patients diagnosed with SAT at one medical facility in Turkey. Patients known to have previous thyroid disease, those with <6 months of follow-up after resolution of SAT, and those who lacked sufficient data for analysis were excluded. Of the 283 patients identified 119 met all inclusion criteria. We extracted data on demographics, laboratory tests, neck pain and other symptoms, ultrasonography findings, medication use, and SAT recurrence. We examined the relationships between these variables and development of permanent hypothyroidism.ResultsThe patients were 42 years old on average, and 78% were women. Most patients (70%) described flu-like symptoms before neck pain started; accordingly, 57% had initially visited a specialty other than endocrinology before SAT was diagnosed, and 28% had received antibiotics for misdiagnosed upper respiratory tract infection. In all, 10 patients (8.4%) developed permanent hypothyroidism after SAT. These patients had received steroids significantly longer than did those without permanent hypothyroidism (mean 17.7 vs. 8.9 weeks; P = .021). Development of hypothyroidism was significantly lower among patients with thyrotoxicosis.ConclusionsThe diagnosis of SAT can be challenging. Patients who require longer-term steroids after SAT and who have recurrent SAT should be closely monitored for development of hypothyroidism.

Necrolytic migratory erythema: an important visual cutaneous clue of glucagonoma

Objective: Glucagonoma is an extremely rare neuroendocrine tumor that arises from pancreatic islet alpha cells. Although glucagonoma is usually accompanied by a variety of characteristic clinical symptoms, early diagnosis is still difficult due to the scarcity of the disease. Methods: In this study, we present the cumulative experiences, clinical characteristics and treatments of seven patients diagnosed with glucagonoma during the past 10 years at the First Affiliated Hospital of Xi’an Jiaotong University. Results: The seven patients in our cohort consisted of six females and one male with an average diagnosis age of 40.1 years (range 23-51). The average time from onset of symptoms to diagnosis of glucagonoma was 14 months (range 2-36 months). All the patients visited dermatology firstly for necrolytic migratory erythema (NME) 7/7 (100%), other presenting symptoms included: diabetes mellitus (DM) 4/7 (57%), stomatitis 2/7 (28%), weight loss 4/7 (57%), anemia 4/7 (57%), diarrhea 1/7 (14%), DVT1/7 (14%). Plasma glucagon levels were increased in all patients (range 216.92–3155 pg/mL), and declined after surgery. Imaging studies revealed that four of seven patients had liver metastasis. Six of seven patients received surgical resection, and all of them received somatostatin analogue therapy. Symptoms improved significantly in 6 out of 7 patients. Three of seven patients died of this disease by the time of follow-up. Conclusion: Our data suggest that if persistent NME is associated with DM and high glucagon levels, timely abdominal imaging should be performed to confirm glucagonoma. Once diagnosed, surgery and somatostatin analogues are effective for symptom relief and tumor control.

Gamma Knife Radiosurgery for Tuberculum Sellae Meningiomas: A Series of 78 Consecutive Patients

Background: Outcomes of Gamma Knife Radiosurgery (GKRS) for tuberculum sellae meningiomas (TSMs) have not been reported explicitly within any meningioma series. We present the first and largest TSM series with clinical, radiosurgical, and outcome features for 78 consecutive patients managed with GKRS. Methods: Patients who underwent GKRS for TSMs between 2005 and 2021 and had a minimum of 6 months of follow-up were included. Medical records, imaging studies, and follow-up examinations were evaluated retrospectively.Results: A total of 78 patients with a median age of 50.5 years were included. SRS was conducted as an upfront treatment for 38 patients (48.7%). The median target volume was 1.7 cm3 (range, 0.1-14.6). During a median follow-up of 78.5 months, the cumulative PFS rates of the whole cohort at 1, 5, and 10 years by Kaplan-Meier analysis were 100%, 97.9%, and 94.5%, respectively. Of 47 patients with impaired vision, improvement and/or preservation of visual acuity and visual field were achieved in 55.3% and 42.6%, respectively. No new-onset hormonal deficits were observed.Conclusions: Based on our data, SRS represents an effective and safe modality for unresected or recurrent/residual TSMs. SRS should be offered to patients who are not willing or not ideal candidates for surgery.

Evaluating discrepancy rates of radiology resident provisional reports for cross-sectional body imaging studies at a tertiary hospital

Introduction Urgent radiological studies obtained during on-call hours are often preliminarily read by on-call residents before consultant radiologists finalise the reports at a later time. Such provisional radiology reports provide important information to guide initial patient management. This study aims to determine discrepancy rates between provisional reports and final interpretations, and to assess the clinical significance of such discrepancies. Methods This retrospective quality assurance project reviewed a total of 1218 cross-sectional imaging studies of the body (thorax, abdomen and pelvis) done between July 2015 and May 2016 during on-call hours. The studies included 1201 Computed tomography (CT) scans and 17 Magnetic Resonance Imaging (MRI) scans. Studies with incomplete or unavailable reports were excluded. Conclusions of both the provisional and final reports of each study were reviewed for concordance, with reference to the full report if needed. Discrepancies were graded according to the ACR 2016 RADPEER scoring system. Results There were 1210 studies with complete reports. Discrepant reports were noted in 183 (15.1%) studies. Of these, 89 (7.3%) were assessed to be clinically significant and the majority of these (55) were due to interpretations which should be made most of the time. CT of the abdomen and pelvis were the most prone to discrepant reports, accounting for 148 cases (80.9%). Conclusion The majority of preliminary reports for on-call body scans were concordant with final interpretations. The discrepancy rates for provisional body scan reports provided by residents while on call were comparable to those previously reported in literature.

Chronic Eosinophilic Pneumonia Masquerading as a Lung Mass

Lung masses are becoming more common, and although most are tumors, benign or malignant, some are not solid masses. Many pathologies can present as lung nodules, including lung cancers, hamartomas, lung abscesses, granulomas, and eosinophilic pneumonia, to name a few. A 40-year-old woman with a long history of smoking presented with cough and left-sided chest pain. After multiple imaging studies, she was thought to have a lung malignancy; however, multiple biopsies proved this was not the case. The histology reports of 3 to 4 biopsies at separate times indicated chronic inflammation ongoing in the lungs without any cancer cells present. She was treated for chronic eosinophilic pneumonia with a resolution of symptoms. The purpose of this case report is to discuss a case that was initially thought to be a lung mass but found to be chronic eosinophilic pneumonia manifesting as a lung mass.