Co-existence of multiple sclerosis and germinoma in an adult male: Case report.

BACKGROUND: Concurrent diagnosis of multiple sclerosis (MS) and the central nervous system (CNS) germinoma is rare. The diagnostic criteria for MS rely primarily on clinical presentation, and CNS germinoma can present as an MS mimic. These factors contribute to the rarity of dual diagnosis. CASE DESCRIPTION: A 28-year-old man presented initially with bilateral optic neuritis, manifesting as persistently worsening vision for 2 years, and demyelinating plaques identified within the corpus callosum on magnetic resonance imaging. Initial work-up, in addition to clinical presentation, led to diagnosis of MS. Three months following the diagnosis of MS, the patient then presented with obstructive hydrocephalus due to a newly diagnosed intraventricular mass. The patient underwent an endoscopic third ventriculostomy and biopsy which confirmed diagnosis of CNS germinoma. CONCLUSION: To the best of our knowledge, dual presentation of both MS and CNS germinoma has never been reported in the literature. The clinical presentation of bilateral optic neuritis (persisting for roughly 2 years before initial MS diagnosis), demyelinating plaques, and intrathecal oligoclonal bands before the development of an intraventricular mass indicates that both MS and CNS germinoma presented simultaneously in this patient. The treatment plan for this patient included carboplatin + etoposide, followed by adjuvant radiation and subsequent IVIG therapy.

Rosette-forming glioneuronal tumor: an illustrative case and a systematic review.

BACKGROUND: Rosette-forming glioneuronal tumors (RGNTs) are rare, low-grade, primary CNS tumors first described in 2002 by Komori et al. RGNTs were initially characterized as a World Health Organization (WHO) grade I tumors typically localized to the fourth ventricle. Although commonly associated with an indolent course, RGNTs have the potential for aggressive behavior. METHODS: A comprehensive search of PubMed and Web of Science was performed through November 2019 using the search term "rosette-forming glioneuronal tumor." Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were followed. English, full-text case reports and series with histopathological confirmation were included. Patient demographics, presentations, MRI features, tumor location, treatment, and follow-up of all 130 cases were extracted. RESULTS: A 19-year-old man with a history of epilepsy and autism presented with acute hydrocephalus. MRI scans from 2013 to 2016 demonstrated unchanged abnormal areas of cortex in the left temporal lobe with extension into the deep gray-white matter. On presentation to our clinic in 2019, the lesion demonstrated significant progression. The patient's tumor was identified as RGNT, WHO grade I. One hundred thirty patients were identified across 80 studies. CONCLUSION: RGNT has potential to transform from an indolent tumor to a tumor with more aggressive behavior. The results of our systematic review provide insight into the natural history and treatment outcomes of these rare tumors.

Myxoid glioneuronal tumor, PDGFRA p.K385-mutant: clinical, radiologic, and histopathologic features.

"Myxoid glioneuronal tumor, PDGFRA p.K385-mutant" is a recently described tumor entity of the central nervous system with a predilection for origin in the septum pellucidum and a defining dinucleotide mutation at codon 385 of the PDGFRA oncogene replacing lysine with either leucine or isoleucine (p.K385L/I). Clinical outcomes and optimal treatment for this new tumor entity have yet to be defined. Here, we report a comprehensive clinical, radiologic, and histopathologic assessment of eight cases. In addition to its stereotypic location in the septum pellucidum, we identify that this tumor can also occur in the corpus callosum and periventricular white matter of the lateral ventricle. Tumors centered in the septum pellucidum uniformly were associated with obstructive hydrocephalus, whereas tumors centered in the corpus callosum and periventricular white matter did not demonstrate hydrocephalus. While multiple patients were found to have ventricular dissemination or local recurrence/progression, all patients in this series remain alive at last clinical follow-up despite only biopsy or subtotal resection without adjuvant therapy in most cases. Our study further supports "myxoid glioneuronal tumor, PDGFRA p.K385-mutant" as a distinct CNS tumor entity and expands the spectrum of clinicopathologic and radiologic features of this neoplasm.

Adult autoimmune enteropathy presenting initially with acquired Acrodermatitis Enteropathica: a case report.

BACKGROUND: Acrodermatitis enteropathica (AE) is a rare dermatitis secondary to zinc deficiency most commonly seen as an inherited disease in infants. In the last decade, increased number of reports have been published on the acquired form that presents in adulthood. Unlike its inherited counterpart, acquired AE (AAE) is often secondary to underlying pathologic or iatrogenic etiologies that interfere with nutritional absorption, such as inflammatory bowel disease or alcoholism. Various gastrointestinal pathologies have been associated with AAE, but there is currently no report on its association with adult autoimmune enteropathy (AIE), a rare gastrointestinal disorder commonly seen in infants, with limited cases reported in adults. Here we present a case in which AAE was the initial clinical manifestation in an adult patient subsequently diagnosed with AIE. CASE PRESENTATION: A 41-year-old African American female presented to our emergency department at the Johns Hopkins Hospital with several months of progressively worsening dermatitis in the legs and acral regions, along with worsening symptoms of diarrhea, alopecia, poor oral intake, lethargy, hematochezia, peripheral edema, and weight loss. Our dermatology team was consulted given a presentation of exquisitely tender, erythematous, and diffusely desquamating skin lesions in the setting of two prior outside hospitalizations in the last 3 months with the same dermatitis that was refractory to topical and oral corticosteroids. Low serum zinc level and positive response to zinc supplementation confirmed the diagnosis of AAE. However, persistent hypovitaminosis and mineral deficiency despite aggressive nutritional supplementation prompted further investigation for an underlying malabsorption etiology. Jejunal biopsy and associated autoantibodies confirmed a diagnosis of adult AIE. CONCLUSION: This case highlights the fact that adult AIE can present initially with clinical findings of AE. While proper zinc supplementation can resolve the latter, recognizing this association can trigger earlier diagnosis, minimize unnecessary tests, and establish earlier intervention to improve quality of life and prevent recurrence of AAE. The case also highlights the importance of collaboration between general and subspecialist physicians in identifying a primary etiology to a secondary clinical presentation. This report can be beneficial to general internists and emergency physicians, as much as it can be to dermatologists, rheumatologists, and gastroenterologists.

Selective suppression of the human aryl hydrocarbon receptor function can be mediated through binding interference at the C-terminal half of the receptor.

The human aryl hydrocarbon receptor is a cytosolic signaling molecule which affects immune response and aberrant cell growth. Canonical signaling of the receptor requires the recruitment of coactivators to the promoter region to remodel local chromatin structure. We predicted that interference of this recruitment would block the aryl hydrocarbon receptor function. To prove that, we employed phage display to identify nine peptides of twelve-amino-acid in length which target the C-terminal half of the human aryl hydrocarbon receptor, including the region where coactivators bind. Eight 12mer peptides, in the form of GFP fusion, suppressed the ligand-dependent transcription of six AHR target genes (cyp1a1, cyp1a2, cyp1b1, ugt1a1, nqo1, and ahrr) in different patterns in Hep3B cells, whereas the AHR antagonist CH-223191 suppressed all these target genes similarly. Three of the 12mer peptides (namely 11-3, 1-7, and 7-3) suppressed the 3MC-induced, CYP1A1-dependent EROD activity and the ROS production caused by benzo[a]pyrene. These 12mer peptides suppressed the AHR function synergistically with CH-223191. In conclusion, we provide evidence that targeting the C-terminal half of the human aryl hydrocarbon receptor is a viable, new approach to selectively block the receptor function.

Diagnosis and treatment of leprosy type 1 (reversal) reaction.

Leprosy is a chronic granulomatous infection caused by the organism Mycobacterium leprae that primarily affects the skin and peripheral nerves. Leprosy has several distinct clinical presentations ranging from moderate to severe, with the extent of disease generally depending on the host's immune response to the infection. Treatment typically involves antimicrobials (eg, clofazimine, dapsone, rifampin). Once treatment is started, an important aspect of patient care is the recognition of possible reversal reactions. We report the case of a 44-year-old man who repeatedly developed physical findings consistent with a type 1 (reversal) reaction after undergoing multiple treatments for leprosy. A discussion of leprosy along with its clinical manifestations, treatment methods, and management of reversal reactions also is provided.