Immune Thrombocytopenic Purpura Presenting with Pituitary Apoplexy: A Case Report and Literature Review.

Background Pituitary apoplexy is a rare condition that usually occurs in the setting of a pituitary adenoma. It can present with symptoms of visual disturbances, vertigo, headache, and neurological impairments. Computed tomography (CT) scans can aid in identifying pituitary apoplexy and ruling out other diseases. We present a unique case of pituitary apoplexy in the setting of immune thrombocytopenic purpura (ITP). Case Description A 61-year-old man with a past medical history significant for myocardial infarction presented to the emergency department with symptoms of diplopia and headache 36 hours after onset. The patient was found to have severe thrombocytopenia with a platelet count below 20,000. A CT of the head revealed a possible pituitary adenoma with compression of the optic chiasm. The patient's platelet count continued to decrease throughout his admission and dropped below 7,000 on day 2 of admission. The patient was given platelet transfusion along with intravenous immunoglobulins. The patient underwent endoscopic transsphenoidal resection of the pituitary mass. Pathology of the mass revealed immature platelets characteristic of immune ITP in the setting of pituitary apoplexy. Conclusion While ITP in the setting of pituitary apoplexy is a rare entity, we believe that clinicians should have pituitary apoplexy on their differential diagnosis in patients with ITP.

Midline brain hamartomatous lesions in fibrodysplasia ossificans progressiva with ACVR1 mutations.

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by extensive heterotopic ossification of soft tissue structures leading to severe limitations in movement. FOP is caused by a germline mutation in the activating receptor type IA (ACVR1) gene. Worrisome is the fact that up to a third of diffuse intrinsic pontine gliomas (DIPG) also harbor the same point mutation in ACVR1. Radiological reports of central nervous system (CNS) involvement by FOP have described brainstem masses; however, the literature on the histopathology or pathogenesis of these lesions is scant. Here we present detailed neuropathologic findings of a brainstem mass in a patient with FOP and suggest that the tumor is hamartomatous in nature. This report, along with a literature review of radiographic and laboratory data, offers support for the idea that the ACVR1 mutation may incite CNS proliferation, predominantly in the brainstem, but is probably not an oncologic driver. These lesions may be seen at autopsy and are likely noncontributory to death.

Jamestown Canyon Virus (JCV) Encephalitis Mimicking Acute Stroke in Michigan: A Case Report and Review of the Literature.

Jamestown canyon virus (JCV) is an arbovirus and is an under-recognized cause of mosquito-borne viral encephalitis. In this report we present a patient who presented with focal neurological deficits. Patient was initially evaluated for stroke. However, leptomeningeal enhancement on MRI and CSF studies were concerning for viral encephalitis. Brain biopsy and CSF sample from surgical site was positive for JCV IgM antibodies. Patients presenting with concern for viral encephalitis in endemic areas should undergo antibody testing for JCV to guide appropriate treatment.

A patient with diffuse alveolar hemorrhage: A diagnostic dilemma.

Diffuse alveolar hemorrhage (DAH) is a usual presentation of pulmonary vasculitis. However, several rare conditions have a similar presentation. We present a 73-year-old man with DAH whose diagnosis only became conclusive near the end of his life. The objective is to discuss the important differential diagnoses in a patient presenting with diffuse alveolar hemorrhage. There are very few case reports on pulmonary angiosarcoma and all of them discussed the rarity of the diagnosis, presentation, and treatment. Here, we would like to bring about the dilemma and challenges we internists face when managing any patient with Diffuse Alveolar Hemorrhage.

Recurrent activity-induced headache associated with posttraumatic dural adhesion of the middle meningeal artery: A case report.

BACKGROUND: The middle meningeal artery is surrounded by a plexus of afferent fibers shown to be involved in the progression of some forms of headache, especially migraine. Posttraumatic headache disorders sharing characteristics with migraine and involving the middle meningeal artery are not readily available in the literature. CASE DESCRIPTION: This report describes a posttraumatic headache disorder in a middle-aged woman in which the causative factor proved to be a pathology of the left middle meningeal artery that resulted from trauma. Her pain could be triggered by moderate accelerative changes, occurring in the left frontotemporal region, and shared characteristics with migraine. Resection of a portion of the left middle meningeal artery has completely eliminated her pain syndrome. CONCLUSION: This case further elucidates associations between the middle meningeal artery and headache. The presentation of posttraumatic headache sharing characteristics with migraine should suggest the possibility of a middle meningeal artery abnormality.

Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology.

Co-occurrence of multiple neuropathologic changes is a common phenomenon, most prominently seen in Alzheimer's disease (AD) and Parkinson's disease (PD), complicating clinical diagnosis and patient management. Reports of co-occurring pathological processes are emerging in the group of genetically defined repeat-associated non-AUG (RAN)-translation related diseases. Here we report a case of Fragile X-associated tremor-ataxia syndrome (FXTAS) with widespread and abundant nuclear inclusions of the RAN-translation related FMRpolyG-peptide. In addition, we describe prominent neuronal and glial tau pathology representing changes seen in progressive supranuclear palsy (PSP). The highest abundance of the respective pathological changes was seen in distinct brain regions indicating an incidental, rather than causal correlation.

An Incidental Diffuse Midline Glioma Found at Autopsy.

This case shows an unexpected midline glioma found at autopsy. Two siblings were riding on a single bicycle on the side of a road. The 13-year-old brother was seated and steering the bicycle, while the 14-year-old sister held onto the back. The bicycle veered left into traffic and was struck by a vehicle. The siblings were admitted to the local Level 1 trauma center, but both later succumbed to injuries. Autopsies were performed on the children, including brains for neuropathologic evaluation. The brother was found to have an infiltrating astrocytoma located in the left middle cerebellar peduncle, with extension to the pons and medulla. His hospital course included several imaging studies using CT and MRI modalities. However, this lesion was not identified until the postmortem neuropathologic examination. This rare case shows the continued need for postmortem autopsy and the current limitations of medical imaging.

Social Media and Pathology: Where Are We Now and Why Does it Matter?

Social media has exploded in popularity in recent years. It is a powerful new tool for networking, collaborating, and for the communication and evolution of ideas. It has been increasingly used for business purposes and is now being embraced by physicians including pathologists. Pathology professional organizations and even peer-reviewed pathology journals are now beginning to use social media, as well. There are multiple social media platforms, including Twitter, Facebook, Instagram, LinkedIn, and others. Each platform has different audiences and different ways to share content and interact with other users. This paper discusses the different social media platforms and how they are being used in pathology currently.

Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis.

The neurofibromatoses are a heterogeneous group of hereditary cancer syndromes that lead to tumors of the central and peripheral nervous systems, as well as other organ systems. By far the most common form is neurofibromatosis 1 (96%), followed by neurofibromatosis 2 (3%), and a more recently recognized, lesser known form, schwannomatosis. The diagnostic criteria, pathogenesis, molecular considerations, and clinical manifestations are discussed in this review article.

Predicting the likelihood of an isocitrate dehydrogenase 1 or 2 mutation in diagnoses of infiltrative glioma.

BACKGROUND: Several variables are associated with the likelihood of isocitrate dehydrogenase 1 or 2 (IDH1/2) mutation in gliomas, though no guidelines yet exist for when testing is warranted, especially when an R132H IDH1 immunostain is negative. METHODS: A cohort of 89 patients was used to build IDH1/2 mutation prediction models in World Health Organization grades II-IV gliomas, and an external cohort of 100 patients was used for validation. Logistic regression and backward model selection with the Akaike information criterion were used to develop prediction models. RESULTS: A multivariable model, incorporating patient age, glioblastoma multiforme diagnosis, and prior history of grade II or III glioma, was developed to predict IDH1/2 mutation probability. This model generated an area under the curve (AUC) of 0.934 (95% CI: 0.878, 0.978) in the external validation cohort and 0.941 (95% CI: 0.918, 0.962) in the cohort of The Cancer Genome Atlas. When R132H IDH1 immunostain information was added, AUC increased to 0.986 (95% CI: 0.967, 0.998). This model had an AUC of 0.947 (95% CI: 0.891, 0.995) in predicting whether an R132H IDH1 immunonegative case harbored a less common IDH1 or IDH2 mutation. The models were also 94% accurate in predicting IDH1/2 mutation status in gliomas from The Cancer Genome Atlas. An interactive web-based application for calculating the probability of an IDH1/2 mutation is now available using these models. CONCLUSIONS: We have integrated multiple variables to generate a probability of an IDH1/2 mutation. The associated web-based application can help triage diffuse gliomas that would benefit from mutation testing in both clinical and research settings.