A case of immune-complex mediated glomerulonephritis associated with pembrolizumab

Introduction: Immune checkpoint inhibitors (ICI) are changing the way we treat cancer. However, these novel agents have various systemic adverse events that may preclude its use and cause poor patient outcomes. ICI-associated acute kidney injury is an emerging complication of this treatment. While tubulointerstitial disease is the most common pathologic finding of patients with ICI-associated AKI, there is sparse data in medical literature describing its association with glomerular disease. Case report: Here, we present a patient with metastatic lung adenocarcinoma who developed acute kidney injury and significant proteinuria after receiving pembrolizumab. The kidney biopsy revealed a membranoproliferative and diffuse segmental endocapillary proliferative pattern of glomerular injury. Management and outcome: Pembrolizumab was then held and high-dose prednisone was initiated, resulting in a rapid and dramatic improvement in kidney function and proteinuria. Discussion: We highlight a report of a patient diagnosed with immune-complex mediated glomerulonephritis associated with the use of pembrolizumab, who was successfully treated with drug withdrawal and corticosteroids.

Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic BMPER Mutation

Diaphanospondylodysostosis is an extremely rare, recessively inherited, perinatal lethal skeletal disorder associated with BMPER gene mutations. Clinically it is characterized by defects in costovertebral ossification, absent ribs, hypertelorism, short nose with depressed nasal bridge, low-set ears, and short neck. At the extraosseous level, the most frequent pathologic finding is nephroblastomatosis with multicystic kidneys. We present the case of a child of non-consanguineous parents who died at 2 months of age in our center. Autopsy showed a marked costovertebral ossification defect, perilobar nephrogenic rests and loss of white matter with periventricular leukomalacia. After genetic study, the diagnosis of diaphanospondylodysostosis was confirmed. A previously undescribed germinal mutation in the BMPER gene (c.576 + 2dupT) was found.

Study of prevalence of endometrial cancer in patients with adenomyosis uteri

Background: The aim of the study was to evaluate the prevalence of adenomyosis in endometrial cancer patients and to determine the frequency of adenomyosis and endometrial cancer at hysterectomy specimens.Methods: This study was carried out retrospectively on pathologic specimens of hysterectomies. A total of 98 women in the period May 2020 to January 2021enrolled to the study. All pathologies seen in hysterectomy specimens were noted. The frequency of adenomyosis and the accompanying pathologies were determined. These women were categorized into two groups according to the cause of hysterectomy. The incidence of adenomyosis was analyzed together with the endometrial cancer.Results: The incidence of adenomyosis was 22% at hysterectomy specimens. There was no statistically significant difference between the mean age of the two groups (p=0.002*). There were 22 cases with adenomyosis and the only pathologic finding was adenomyosis, in 22.7% of cases. The most common accompanying pathologies with adenomyosis were uterine myomas in 95% and on significant association was found in cases of endometrial carcinoma.Conclusions: There is no evidence that adenomyosis increases the risk of endometrial cancer as there is no statistically significant difference found between the group with and the group without adenomyosis in terms of coexistence with endometrial carcinoma.

Endovascular biopsy of a sigmoid sinus lesion using a stent retriever and aspiration catheter

A teenager with a history of acute myeloid leukemia presented with headache, nausea and blurry vision over a 2 week period. The MRI of the brain was concerning for the presence of a myeloid sarcoma within the right sigmoid sinus. For evaluation of venous obstruction and the underlying lesion the patient underwent a cerebral angiogram and transvenous biopsy of the sigmoid sinus lesion using a stent retriever and aspiration catheter. The tissue extracted was consistent with myeloid sarcoma. This pathologic finding was consistent with the recurrence of leukemia and guided the targeted oncologic treatment.

Amyloid deposition in oral cavity and larynx, a single institute experience

Introduction/Objective Amyloidosis is characterized by extracellular accumulation of insoluble amyloid fibril. Amyloid deposition in the head and neck area is rare. Methods/Case Report In this study, we reviewed 34 specimens from 26 patients including: 18 specimens from the larynx and/or pharynx (13 patients) and 16 specimens from the oral cavity (13 patients). The clinical presentation, related laboratory results, and pathologic finding were reviewed. Results (if a Case Study enter NA) Within the 18 laryngeal specimens were: 10 glottic, 4 supraglottic, 3 nasopharyngeal or pharyngeal wall, and 1 subglottic. Of the 16 cases from oral cavity there were 9 lingual, 3 labial, 2 palatine, 1 tonsillar, and 1 alveolar ridge. Ten out of 13 patients with laryngeal amyloid deposition had protein electrophoresis performed and only 3 of the patients had monoclonal light chain detected. Among these three patients, one had multiple myeloma, one had lymphoplasmacytic lymphoma and one had the diagnosis of plasma cell dyscrasia. Interestingly, in the patients with oral cavity amyloidosis, 10 out of 11 patients tested had abnormal findings. Six of the patients had monoclonal light chain, two demonstrated monoclonal peak of IgG kappa, one with IgG lambda and one with IgA lambda. Among these 10 patients, 6 of them had biopsy-proved or history of multiple myeloma, one patient had marginal zone lymphoma, two patients had systematic amyloidosis. Only one patient did not have any malignancy or systematic involvement identified. Conclusion In our small cohort, the most common location of amyloid deposition in the larynx is glottis. When it involves the oral cavity, tongue is the most common location. Compared to the larynx, amyloid deposition in the oral cavity tends to be associated with hematopoietic malignancy or systematic involvement, although this finding needs to be confirmed by a larger scale of study.

Bilateral Helicoid Peri-papillary Sub-retinal Fibrosis Due to a Biallelic NR2E3 Mutation: Describing Variable Expressivity of a Single Genetic Mutation

Background: To describe different clinical presentations of NR2E3 (nuclear receptor subfamily 2, group E, member 3; OMIM 604485) recessive mutation in two families and within one family. Design: Interventional family study. Results: Our first case was a one-year-old male child with high hyperopia and refractive accommodative esotropia. In retinal examination, peri-papillary sub-retinal fibrosis with a helicoid configuration was observed in both eyes. Parents and the only sibling had no pathologic finding in the eyes. The child showed to have severely reduced responses in both photopic and scotopic electroretinogram components. In genetic investigation, a homozygous autosomal recessive mutation in NR2E3 gene was discovered in the affected child, while the other family members were heterozygous for this mutation. We followed up the patient for 3 years and no new lesion developed during this time period. The second case was a 13-year-old male child who was referred to retina clinic for decreased vision in the right eye. In retina examination, there were nummular pigmentary changes at the level of retinal pigment epithelium and along the vascular arcades with foveo-schitic changes in both eyes. A choroidal neovascularization (CNV) was noticed in macula of his right eye. Genetic evaluation proved the same mutation in NR2E3 gene. Family history was remarkable for an uncle, an aunt and two cousins with night blindness. In retina examination, asymptomatic father of proband showed to have slight pallor of optic nerve head and arterial narrowing in both eyes. Conclusion: NR2E3 gene mutation can cause heterogeneous clinical manifestations such as slight retinal changes in the absence of any visual symptoms to high hyperopia associated with helicoid peri-papillary sub-retinal fibrosis.

Bilateral Corneal Ghost Vessels in an Otherwise Healthy Child

We report a rare case of bilateral corneal ghost vessels in a 6–year-old child with an unremarkable past ocular and past medical history. This study was a single observational case report. A 6-year-old girl was referred to our clinic for further evaluation, due to suboptimal visual acuity in both eyes. Her past medical and ocular history revealed no systemic, inflammatory, infectious, or degenerative disorders. Slit-lamp examination revealed regressed blood vessels (“ghost vessels”) in the anterior and mid-corneal stroma as the only pathologic finding. Confocal scanning microscopy of both corneas demonstrated scattered branching railroad-shaped ghost vessels at the level of the middle and anterior stroma. Complete systemic workup was performed for the patient. No identifiable risk factor for the development of corneal vascularization was found. According to our findings, we assume that in our patient, vasculogenesis occurred due to angioblast invasion to the presumptive cornea due to disequilibrium in mechanisms involved in vascular patterning during embryonic development.

Acute Esophageal Necrosis (Black Esophagus): An Autopsy Case Series

Introduction: Acute esophageal necrosis (AEN), also known as black esophagus and acute necrotizing esophagitis, is a rare pathologic finding of unknown etiology. It was first characterized as diffuse, circumferential black discoloration of the esophageal mucosa that affects predominantly the distal esophagus with sharp transition to normal-appearing mucosa at the gastroesophageal junction. Case frequency of AEN remains low and mainly found incidentally, with up to 0.2% in autopsy and endoscopy studies. Men are 4 times more commonly affected and overall mortality is approximately 32%. Methods: Black esophagus was incidentally found during ten forensic autopsy cases. Complete autopsies with photographs, histological examination, and toxicological analysis were performed. Case background information was reviewed. A review of literature was done, with research criteria including previous case reports, diagnosis, and autopsy, endoscopic, and microscopic findings of AEN. Results: Nine of ten deceased were male, with an age range of 26 to 67 years old. The most common preexisting pathological condition was chronic alcohol consumption, seen in six of ten cases, and in eight cases, the death occurred suddenly at home. “Classic” black esophagus was only seen in four cases. Upper gastrointestinal hemorrhage due to acute necrotizing esophagitis was established as the immediate cause of death in six of ten cases. Discussion: This case series demonstrates ten cases of AEN with variation in appearance, yet diagnosis supported by histology, ancillary testing, and case information. The case frequency was higher than previously reported, 0.7%, suggesting that the prevalence of AEN may be underestimated, especially in forensic death investigations.

Apparent posterior cerebral artery territory perfusion asymmetry on arterial spin labeling MRI is a common non-pathologic finding in patients with a unilateral fetal posterior cerebral artery

Purpose To determine the frequency of apparent posterior cerebral artery (PCA) territory asymmetry seen on arterial spin labeling (ASL) imaging in patients with a unilateral fetal PCA, but without underlying clinical or imaging pathology to suggest true hypoperfusion. Methods A search of radiology reports from 1/2017 through 6/2020 was performed with the inclusion term "fetal PCA.” Eighty patients were included with unilateral fetal PCA confirmed on MRA or CTA, with brain MRI including ASL imaging, and without conventional imaging abnormality or clinical symptoms referable to the PCA territories. Cases were evaluated by two independent readers for visually apparent PCA perfusion asymmetries. ASL imaging consisted of pseudocontinuous ASL with 1.5 s labeling duration and 2 s post-labeling delay adapted from white paper recommendations. Results Thirteen of 80 cases (16.2%) had apparent hypoperfusion in the PCA territory contralateral to the side of the fetal PCA. Agreement between readers was near perfect (97.5%, κ = 0.91). This finding was more common in patients who were older, scanned on a 3.0 T magnet, and who had non-visualization of the posterior communicating artery contralateral to the fetal PCA. Conclusion Apparent PCA hypoperfusion on ASL is not uncommon in patients with a contralateral fetal PCA who have no clinical or conventional imaging findings to suggest true hypoperfusion. This phenomenon is likely due to differential blood velocities between the carotid and vertebral arteries that result in differential arterial transit times and labeling efficiency. It is important for radiologists to know that apparent hypoperfusion may arise from variant circle of Willis anatomy.

Headache can be the only symptom of COVID-19: A case series

Headache is the fourth most common cause among the total applications to emergency services; it constitutes 5% of the applications to hospitals every year. Five-fold increase was detected in the incidence of headache in the regions affected by coronavirus disease-2019 (COVID-19) pandemic. While the symptoms of respiratory systems have been frequently observed, the occurrence of symptoms and complications in peripheral and central nervous system has become increasingly prevalent in the cases of COVID-19 disease. In this case series, we highlight that the patients with isolated headache may be diagnosed with COVID-19 infection. Three female patients (forty, sixty and sixty-two years of old) were admitted to the emergency service with complaints of severe headache. Their headache did not respond to the paracetamol and the nonsteroidal anti-inflammatory drug (NSAID) they used prior to their application to the hospital. No pathologic finding was detected in cerebral imaging. All patients were diagnosed with COVID-19 by their clinical status and history. The headache was the isolated symptom of the COVID-19 in all the three cases. The possibility of COVID-19 infection must be considered in the evaluation of the patients admitted to hospital with complaints of headache, one of the most frequent reasons for hospital assistance requests.