Jornal de relatos de casos clínicos

Today no biomarkers reflecting joint tissue destruction or Disease-Modifying Osteoarthritis Drugs (DMOADs) are available on the market. This case report decscribes a new pharmaceutical drug combination consisting of Sildenafil, Mepivacaine and Glucose (SMG) used for intra-articular treatment of lameness associated osteoarthritis of the right distal interphalangeal joint in a nine-year-old Swedish pony. The pony had a history of moderate lameness during five months and were treated with intra articular corticosteroids three times without any recovery of lameness (visit 1-5). Clinical lameness examinations, including intra articular anaesthesia, radiological examination, standing low-field MRI and quantification of biomarkers for cartilage and bone degradation (COMP156 and BGN262) in synovial fluid and serum was performed over a period of 24 months post intervention. At inclusion (visit 6) the pony showed lameness and levels of synovial fluid COMP156 was 98 μg/ml and serum 6.0 μg/ml and serum BGN262 1124 ng/ml. Intra-articular treatment with SMG was performed twice with 4 weeks interval. One month after the first injection (visit 7), the horse was non lame and the concentrations of COMP156 was remarkable reduced to 17.6 μg/ml in the synovial fluid. The MRI data indicated improved subchondral bone sclerosis and healed bone inflammation. The horse remained sound and the longitudinal follow up of COMP156 and BGN262 levels in serum declined during the post-treatment observation period of 24 months. Intra articular treatment of SMG injection was well tolerated, as no clinically adverse effects were observed.

S. suis is a zoonotic pathogen found primarily in swine that has been described to cause human infection with various presentations and a high incidence of long-term neurologic sequelae. Most published literature cases have been reported in Southeast Asia, with only a paucity of reports in North America, particularly in the United States. It is unclear if the disease is absent in this area or has been misdiagnosed. Here, we report the case of a 48-year-old female swine worker who suffered immune-mediated thrombocytopenia, facet joint arthritis, and bilateral sensorineural hearing loss precipitated by occupationally acquired meningitis caused by S. suis. Following therapy with antibiotics and corticosteroids, the patient fully recovered except for hearing loss, which was permanent necessitating cochlear implant placement. We hope to raise clinicians' awareness of this rare, potentially devastating, but treatable disease by describing this case. S. suis should be suspected in patients with unexplained symptoms, particularly headache and meningeal signs, who have a history of pig exposure or pork consumption.

The NMDA receptor is a protein in the brain that helps control thoughts, mood and movements and therefore antibodies against NMDA receptors are likely to have an important role in altering these functions. About 1% of dermoid cysts present with neurological symptoms. This is the case of a young girl was admitted in Critical Care with encephalitis of unknown aetiology and was extensively investigated for the cause. She was found to have small bilateral dermoid cysts following the removal of which she had prompt recovery.

Anti-NMDAR encephalitis is a serious, potentially fatal condition that is often initially confused with schizophrenia spectrum mental illness which leads to inevitable delays in diagnosis and management. Thinking out of the box and involving MDT is the key to management in more complex and rare cases. Dermoid cysts or mature ovarian teratomas should be the first differential in young women presenting with NMDAR encephalitis.

Background: Erdheim-Chester Disease (ECD) is a rare multisystemic disease, characterized by the infiltration of multiple organs by foamy CD68+CD1a- histiocytes. ECD is classified within the group of “L” histiocytosis, together with Langerhans Cell Histiocytosis (LCH), Indeterminate Cell Histiocytosis (ICH) and mixed LCH and EDC. Histiocytic Neoplasms (HNs) are a rare and heterogeneous group of disorders which involve the myeloid lineage and include different clinical entities, ranging from isolated cutaneous manifestations to multisystemic disease. ECD involves the long bones of the lower limbs, the cardiovascular system, the retroperitoneum, the endocrine system, the central nervous system, lungs, skin and the facial sinus or the orbits. This process results in multiorgan damage, mimicking that of neoplastic and systemic immune-mediated diseases. The genetic background consists of gain of function somatic mutations in MAPK pathway, found in almost 80% of ECD patients. The mutation BRAF c.1799T>A, p.Val600Glu (BRAFV600E) is detected approximately in the 50% of ECD patients, followed by the activating mutations in MAP2K1 in close of 20% of cases. The individualization of the specific mutation allows the clinician to practice a targeted therapy. Methods: We report on the complex case of a 70-year-old man consulting for arthralgias due to multiple bone areas of sclerosis, first diagnosed as metastases of a prostatic neoplasm. Results: Despite three bone biopsies and various imaging exams, the diagnosis was reached after one year, when a xanthelasma biopsy showed histopathological signs compatible with ECD, but the immunohistochemistry didn’t evidence positivity for BRAFV600E stain. The diagnosis of ECD was confirmed later by the genetic analysis, which showed the mutation BRAFV600E. Conclusion: The present case report testimonies how ECD diagnosis could represent a challenge for the clinicians due to its heterogeneous clinical presentation.

Background: We present a rare case of malignant transformation of a craniopharyngioma in a patient who received growth hormone replacement therapy.

Case description: A 43-year-old male came to our department with a headache and visual disturbance and was admitted. Brain Magnetic Resonance Imaging (MRI) revealed a giant tumor in the intra- and suprasellar region compressing the optic chiasma. Using a transcranial pterional approach the tumor removal was performed as much as possible with the residual mass removed later with a trans-sphenoidal approach. The initial histopathological diagnosis was adamantinomatous craniopharyngioma. Decompression of the optic chiasma was achieved and visual function improved though residual tumor tissue remained in the parasellar region without regrowth seen for more than 24 years. At the age of 67 years the patient received growth hormone replacement therapy because of a deficiency then 2 years later the residual tumor began to gradually grow. Trans-sphenoidal surgery was again performed to remove the growing tumor and histopathology results revealed an adamantinomatous craniopharyngioma with malignant transformation. Stereotactic radiation therapy was performed for the residual mass with a total dose of 60 Gy. Presently 1 year later the patient has a stable condition and the tumor remains controlled while follow-up examinations are continuing.

Conclusion: A craniopharyngioma may undergo malignant transformation with continuous exposure to administered growth hormone. Close follow-up and imaging examinations are necessary to detect a change including tumor growth in such cases.

In our case report, we discuss a patient, who underwent a dual antiplatelet therapy as a secondary prevention of stroke. To our knowledge, there are no other cases in the literature reviews about pituitary haemorrhage on dual antiplatetelet therapy. The 7^th most common reason for intrapituitary haemorrhage is aspirin. However, the risk for bleeding was not considered when a dual therapy was administered.

The patients, who have suffered a stroke, need a suitable secondary stroke prophylaxis. The dual therapy has shown advantages over the monotherapy with aspirin or with clopidogrel. The personal approach to every patient, who has suffered a stroke, has to be taken. The pituitary adenoma can increase the risk for intracranial bleeding, when a dual therapy is used as a second stroke prophylaxis.

Background: The COVID-19 pandemic can lead to severe respiratory failure and hypoxia. Extracorporeal life support or ECMO, has been successful in treating patients with respiratory disease from a variety of causes but its’ use in COVID-19 is controversial. While it may be helpful, concern over heavy resource use when personnel and equipment may be limited raises caution. Concurrent obesity and secondary organ failure have also been cited as poor prognostic indicators.

Case summary: We present our first COVID-19 patient with both obesity and acute kidney injury who received ECMO support at a large, experienced ECMO center and survived to discharge.

Conclusion: ECMO can provide life-saving support for patients with severe respiratory failure, concurrent obesity and renal failure in selected patients.

Invasive Aspergillosis (IA) is a severe opportunistic infection that typically affects immunocompromised patients. Ruxolitinib is a selective Janus kinase inhibitor which is used for steroid-refractory acute Graft-vs.-Host Disease (GVHD). Several case reports have described serious opportunistic infections in Ruxolitinib-treated Primary Myelofibrosis (PMF) patients but no routine antifungal prophylaxis is recommended in these patients. We present an interesting case of 77-year-old man with previous history of treated MDS several years ago currently on Ruxolitinib for GVHD who was found to have new cavitary lung lesion on routine imaging.

Cellular neurothecoma is a rare benign skin tumor, which must be distinguished from certain malignant tumors, in particular fibro-histiocytic plexiform cell tumors, clear cell sarcomas ... We report a new case of a 56-year-old man, who consulted for a skin lesion in the lumbar region, measuring approximately 2 cm in diameter. Histological examination showed a tumor proliferation located in the dermis and arriving at the superficial part of the hypodermis, made up of bundles of spindle cells and epithelioids with abundant eosinophilic cytoplasm, oval nucleus and fine chromatin. These bundles were separated by fibrous trabeculae isolating the tumor from the epidermis. The cells expressed CD10, CD99 and CD34 and were negative for PS100, GFAP, desmin, EMA, AML and STAT6. Thus, the diagnosis retained was that of a cellular neurothecoma.

Paranasal sinus mucocele is a benign cystic lesion, of chronic nature, lined with mucosa and filled with mucous content. Obstruction of the frontonasal duct, where frontal sinus drainage occur, leads to mucocele formation, which grows slowly, expanding into the surrounding bony walls with subsequent bone destruction and resorption. Mucocele expansion tends to occur in the direction with the least resistance, thus frontal sinus mucocele has the tendency to expand inferiorly, eroding the superior orbital wall and causing inferior displacement of the globe with consequent ophthalmic symptoms such as: Diplopia, ptosis, proptosis, epiphora or amaurosis in cases of optic nerve compression by the mass effect of mucocele. This case report presents a 42-year-old male with 18 years giant post-traumatic frontal sinus mucocele with orbital involvement and extensive right eye proptosis, where conservative pharmacological treatment was unsuccessful and surgical treatment was favored with good post-operative evolution.

We report a patient who presented with productive cough with dyspnea and change of voice who initially diagnosed as pneumonia. Later was found to have upper chest mass causing vocal cord paralysis suspected lung cancer but eventually turned out to be painless aortic dissection causing ortner syndrome. Left vocal cord paralysis is a concerning sign for painless aortic dissection even in patients with elevated risk of lung cancer such as old age and smoking. CT angiogram is usually the to go test in most scenarios, but if not appropriate due to contraindication such as renal dysfunction, ultrasound or MRI can be reliable alternative tests to expedite diagnosis and treatment.

Neonatal meningitis is a serious, potentially life- threatening condition that requires prompt diagnosis and treatment. Bacterial pathogens are usual suspects; however, viral cause should not be overlooked. We report a case of Parechovirus neonatal meningitis in an 8 days old male infant, emphasizing the importance of considering uncommon viral pathogens in the diagnostic work up. Human Parechovirus belongs to the family of Picornaviridae virus. It is very uncommon and has been associated with a benign clinical course of respiratory and gastrointestinal infection in most cases, however, it is emerging as one of the causes for emergency admission of neonates in hospital due to certain serotypes. The HPeV type 3 has been found mostly in children and young infants presenting with meningitis and sepsis like illness. Infants with severe Central Nervous System (CNS) infections are at an increased risk of long-term sequelae. In this case we describe the clinical presentation, diagnostic challenges, management and outcome of this rare infection. An 8 days old baby presented to our emergency department with sepsis like illness. He was admitted in neonatal unit for further investigations and management. Despite initial presentation the inflammatory markers were normal. Symptomatic-supportive treatment was given till baby made full recovery. Antibiotics were discontinued after 48 hours as culture was negative for bacteria. This case highlights the importance of considering Parechovirus as possible cause of neonatal meningitis when inflammatory markers are normal and plan the management appropriately.

Vertebral blocks are congenital malformations caused by defected segmentation of the vertebrae during embryonic life. They can cause static disorders. Neurological complications are the most serious. We report three cases of spinal blocks in young adults aged 37, 44 and 45. The patients each presented with chronic and recurrent mechanical spinal pain. X-rays and CT scans were used to identify these blocks. The first case presented a dorsal scoliosis with low back pain and an L3-L4 lumbar vertebral block. The second case consulted for back pain without static spinal deformity, with the discovery of a T11-T12 dorsal block. The last case reported mechanical cervicodorsalgia with radiculalgia, for which imaging revealed a C6-C7 cervical block. Management was based on analgesics and anti-inflammatories, combined with physiotherapy. Surgery is indicated when there are signs of neurological complications and spinal instability. The discovery of a vertebral block must be followed up to ensure proper management.

The incidence of EBV positive mucocutaneous ulcer is likely highly underestimated, given its self-limiting course, in addition to its rarity amongst the spectrum of EBV positive lymphoproliferative disorders with only a limited number of reported cases in the literature. It was first identified in 2010 and is associated with immunosuppression, iatrogenic, primary and age related. A slight female predominance has been reported with a median patient age of 66.4 years. Disruptions in the balance of this interaction are believed to result in the lymph proliferation of various cell derivatives. EBV positive Mucocutaneous Ulcer (EBVMCU) is an indolent condition on this spectrum of LPDs, which localizes to the skin and mucosal surfaces. It is a rare lymph proliferation that gained recognition as a new entity in the 2016 revisions to the World Health Organization classifications.

The male patient was 51 years old. He was admitted to hospital on March 29, 2019, due to "fever, cough, jaundice and 5 days of poor appetite". He developed a fever (no body temperature) at 5 days prior to the absence of an obvious cause, no chills, with slight cough, a little white sticky sputum, no blood in the sputum, no rust colored sputum, no chest pain, no nasal congestion or runny nose, no sore throat and had been treated at the local hospital and intends to be diagnosed as "upper respiratory infection".

The present study intended at the responsibility and strategies of European Medicines Agency which is a decentralised bureau of the European Union (EU) responsible for the scientific evaluation, supervision and safety monitoring of medicines in the European Union. The study carried out on the role of European Medicines Agency in the advanced therapies and ensure the assessment of European Medicines Agency in the evaluation of Advanced therapy Medicinal Products and to study the independence of its scientific assessments towards its open and translucent policy. It was focused on its scientific expertise together in the framework of European medicines regulatory network and the procedure of team work and commitment of the Committee in agreement with the regulations following GMP, GCP and GLP. Ultimately, the complete support and guidance given to the Companies researching, developing and manufacturing Advanced Therapy Medicinal Products.