-
Braun Ulrich opublikował 5 miesięcy, 1 tydzień temu
PPAOS was the only and prominent symptom for most of the illness with extrapyramidal signs overtly presenting in the last months of its course. Clinical evaluation, imaging, genetic, and cerebrospinal fluid biomarkers all pointed toward an underlying CBD pathology, albeit the eventual anatomopathological confirmation was not performed. Had her clinical course been more suggestive of PSP, she would have qualified for criteria as PSP-SL. Our case therefore suggests the hypothetic need to discuss the broadening of the existing CBS criteria to encompass isolated PPAOS.Sellar gangliocytomas (SGs) are rare, well-differentiated, low-grade neoplasias that commonly present along with a pituitary adenoma (PA). We describe a case of a 52-year-old woman with a 2-year history of headache, body weight increase, and recent onset of arterial hypertension and type 2 diabetes mellitus. Work-up tests revealed a normal hypophyseal profile, except for mild ACTH elevation, and a sellar mass on magnetic resonance imaging (MRI). A diagnosis of an enlarging pituitary macroadenoma was established, and to prevent symptom progression, the tumour was resected. Pathology showed 2 cell populations ganglion and corticotrope cells. Three years after surgery, the patient no longer had a headache but persisted with arterial hypertension and type 2 diabetes mellitus. A literature review produced 207 cases of SGs. They typically present in women at 40 years of age and the most common clinical presentation are symptoms of acromegaly. Of the documented cases, 74 and 93% were treated with surgery alone or combined treatments (radiotherapy, radiosurgery, or pharmacotherapy), respectively. The majority of deaths associated with a SG came from the first half of the 20th century. In conclusion, this patient presented with a silent SG with likely pituitary hyperplasia. SGs are a challenging diagnosis, have a benign course, and may provide insights into PA tumourigenesis.Self-stabbing is an uncommon method of suicide and attempt of suicide, mostly chosen by young men and people with a psychiatric history. A curious case of suicide attempt by self-stabbing with a huge pointed knife in a 56-year-old man is presented which resulted in a myocardial injury and was evaluated with a stroke after cardiorrhaphy.Downbeat nystagmus (DBN) observed in head-hanging positions, may be of central or peripheral origin. Central DBN in head-hanging positions is mostly due to a disorder of the vestibulo-cerebellum, whereas peripheral DBN is usually attributed to canalolithiasis of an anterior semicircular canal. Here, we describe an atypical case of a patient who, after head trauma, experienced severe and stereotypic vertigo attacks after being placed in various head-hanging positions. Vertigo lasted 10-15 s and was always associated with a robust DBN. The provocation of transient vertigo and DBN, which both showed no decrease upon repetition of maneuvers, depended on the yaw orientation relative to the trunk and the angle of backward pitch. On a motorized, multi-axis turntable, we identified the two-dimensional Helmholtz coordinates of head positions at which vertigo and DBN occurred (y-axis horizontal, space-fixed; z-axis vertical, and head-fixed; x-axis torsional, head-fixed, and unchanged). This two-dimensional area of DBN-associated head positions did not change when whole-body rotations took different paths (e.g., by forwarding pitch) or were executed with different velocities. Moreover, the intensity of DBN was also independent of whole-body rotation paths and velocities. So far, therapeutic approaches with repeated liberation maneuvers and cranial vibrations were not successful. We speculate that vertigo and DBN in this patient are due to macular damage, possibly an unstable otolithic membrane that, in specific orientations relative to gravity, slips into a position causing paroxysmal stimulation or inhibition of macular hair cells.We here report a 21-year-old male who presented with acute myelomonocytic leukemia (AMML) associated with acquired von Willebrand syndrome (AVWS). To our knowledge, this is the first case of AVWS caused by AMML. In our case, following remission-induction chemotherapy combined with idarubicin and cytarabine, the patient showed remarkable improvement of bleeding symptoms due to AVWS. Moreover, after an allogeneic stem cell transplantation from a sibling donor, both AMML and AVWS maintain complete remission.Vulvar malignant melanoma is the second most common subtype of vulvar cancer, accounting for 5-10% of all vulvar cancers. The prognosis is still very poor, although some advances have been achieved in the last years. One of the most significant changes in its management has been the development of less invasive surgical techniques that diminish the risk of postoperative morbidity and long-lasting sequelae. In this article, we review the surgical management of the pathology, based on the comment of 3 cases with vulvar melanoma treated at our institution.Here, we present a rare case of tyrosine kinase inhibitor (TKI)-induced bone marrow aplasia. A 58-year-old man presented with leukocytosis and was diagnosed with chronic myeloid leukemia. He was initially treated with imatinib for 6 years and abruptly discontinued treatment by himself. He was administered dasatinib 5 years after treatment interruption, and presented with pancytopenia 6 months after dasatinib initiation. Bone marrow biopsy revealed severe hypocellularity without blasts. Dasatinib was discontinued, and he recovered from pancytopenia 3 months later; however, BCR-ABL1 was positive for almost all white blood cells in the peripheral blood. We retreated with ponatinib, but pancytopenia developed again. The clinical course indicated TKI-induced bone marrow aplasia. Therefore, ponatinib was discontinued and the patient received an allogeneic hematopoietic stem cell transplantation from a haploidentical daughter using post-transplant cyclophosphamide. He had a major molecular response and had normal complete blood counts and bone marrow 1 year after transplantation.Trastuzumab, as a recombinant IgG1 kappa, is a humanized monoclonal antibody against human epidermal growth factor receptor 2. Accordingly, it is widely used in breast cancers at early and advanced stages. Dermatomyositis is a rare adverse event of trastuzumab therapy, which is not well documented yet. In this study, a patient was treated for invasive ductal carcinoma with some symptoms of rash and generalized fatigue. These symptoms started after the fifth cycle of trastuzumab, which were gradually deteriorating. This patient’s medical and family histories were unremarkable. The progression of the disease was ruled out as a possible cause of dermatomyositis, and the laboratory evaluation revealed a moderate increase in serum muscle protein (CPK). So, trastuzumab treatment was discontinued, and by passing 1 month from the start of prednisolone and hydroxychloroquine, the patient had no symptoms.Immune-checkpoint inhibitors (ICIs) play a crucial role in the treatment of advanced nonsmall cell lung cancer (NSCLC); however, most patients fail this treatment after a limited period. We here report a patient with a pathological complete response after treatment with ICI for stage IV pulmonary adenocarcinoma. A 73-year-old man was referred to our hospital because of hoarseness. A roentgenogram and chest CT scan revealed a huge (78-mm diameter) pulmonary tumor in the right upper lobe and a tumor with cavitation in the left lower lobe. A CT scan also showed enlarged upper mediastinal lymph nodes (LNs). Transbronchial lung biopsy of the tumors showed adenocarcinomas in both. The tumor in the right upper lobe was considered to be the primary with mediastinal LNs metastasis and that in the left lower lobe a pulmonary metastasis. The disease was determined to be cT4N2M1a stage IVA. He was treated with first-line chemotherapy comprising cisplatin, pemetrexed, and bevacizumab for 6 cycles. However, 6 months after CIs for advanced NSCLC may be a promising modality, even for clinical stage IV disease, in the near future. Furthermore, NLR during immunotherapy may be a promising biomarker of ICIs treatment.Malignant lymphoma of the head rarely arises outside of the brain parenchyma as primary cranial vault lymphoma (PCVL). A case of PCVL that invaded from subcutaneous tissue into the brain, passing through the skull, and occurred after mild head trauma is reported along with a review of the literature. The patient was a 75-year-old man with decreased activity. One month before his visit to our hospital, he bruised the left frontal area of his head. Magnetic resonance imaging showed homogeneously enhanced tumors with contrast media in the subcutaneous tissue corresponding to the head impact area and the cerebral parenchyma, but no obvious abnormal findings in the skull. A biopsy with craniotomy was performed under general anesthesia. The pathological diagnosis was diffuse large B-cell lymphoma. On histological examination, tumor cells grew aggressively under the skin. Tumor cells invaded along the emissary vein into the external table without remarkable bone destruction and extended across the skull through the Haversian canals in the diploe. Tumor cells were found only at the perivascular areas in the dura mater and extended into the brain parenchyma. Considering the history of head trauma and the neuroimaging and histological findings, the PCVL in the present case arose primarily under the skin, passed though the skull and dura mater, and invaded along vessels and reached the brain.Clostridium difficile infection (CDI) causing pneumatosis intestinalis (PI) is a rare event, described mostly in immunocompromised patients. We present the case of a 65-year-old female diagnosed with adenocarcinoma of the pancreas who underwent a duodenopancreatectomy with lymphadenectomy and adjuvant gemcitabine and capecitabine. Four months after the end of chemotherapy, she experienced abdominal pain and intermittent diarrhea which became aggravated within 6 months. CT scans revealed diffuse intestinal pneumatosis and recurrence of ductal adenocarcinoma. We hypothesize that local pancreatic cancer recurrence may lead to gastrointestinal dysmotility with consequent increased risk for CDI. The patient had almost complete resolution of PI during the CDI treatment, thus we believe that the CDI was directly responsible for PI in this case.Juvenile xanthogranuloma (JXG) is the most common type of non-Langerhans cell histiocytosis. JXG is a rare benign tumor, which may be present at birth or develop later. The classical form of JXG is characterized by a red-yellowish benign papule or nodule with predilection sites on the head, neck, and trunk, although lesions can appear on extremities or extracutaneous sites. In most cases there is only one lesion, whereas numerous papules or nodules may occur. Special forms of JXG such as mixed, giant, subcutaneous, eruptive, clustered, and plaque-like have been reported and associations between JXG and systemic diseases have been made. Diagnosis mainly relies on the clinical appearance, and histology usually can confirm the disease. Here we present a very rare case of symmetrical giant facial plaque-type juvenile xanthogranuloma (SGFP-JXG) and compare it with classical JXG, variations of JXG, and discuss the differential diagnosis. A 4-year-old Caucasian female presented with plaque-like lesions composed of yellowish confluent papules on both the cheeks.