Successful Treatment with Patisiran in Amyloid Polyneuropathy Harboring His90Asn Mutation in the TTR Gene.

Hereditary transthyretin amyloidosis (hATTR) is a multisystemic, rare, inherited, progressive and adult-onset disease, affecting the sensory-motor nerves, heart, autonomic function, and other organs. There are over 130 mutations known in the TTR gene. The His90Asn mutation has been previously reported in several reports, but its pathogenetic role is still debated. We report two sporadic cases of adult women with a heterozygous His90Asn mutation in TTR gene and neurological involvement extensively investigated. A typical Congo red-positive pathologic deposition of amyloid fibrils in the salivary glands was documented in one subject. Patients were successfully treated with patisiran with a good clinical outcome. These data support a pathogenetic role of His90Asn mutation in hATTR, and suggest early treatment in symptomatic carriers of His90Asn mutation.

A solitary fibrous tumor of the parotid gland: Case report.

INTRODUCTION: Solitary fibrous tumor is a rare neoplasm that can affect any part of the body, also head and neck region. Etiology is unknown. The incidence is slightly higher in males, the age ranges from 11 to 79 years. PRESENTATION OF CASE: It's the first case in our country of left parotid solitary fibrous tumor, removed by partial parotidectomy with facial nerve preservation. Histology examination showed diffuse spindle-shaped cells proliferation, moderate polymorphism, low mitotic index (<4 mitoses per 10 HPF), partially bordered by fibrous capsule. Immunohistochemistry showed STAT6, CD34, CD99 positivity. Six-months follow-up didn't show sign of recurrence. DISCUSSION: Solitary fibrous tumor is a mesenchymal spindle cell neoplasm with fibroblastic differentiation ubiquitous in soft tissues, that involved the head and neck region in 6 % of cases. Etiology is unknown. The possible pathogenesis is NAB2-STAT6 gene fusion. It's asymptomatic or symptoms are related to space-occupying mass. Diagnostic work up involves imaging, immunohistochemistry, histology. Radiographic finding may lead to incorrect assessment of the mass: the same imaging features are present in pleomorphic adenoma, the most frequent tumor of salivary glands. CONCLUSION: This case report aims to stress that, although rare, solitary fibrous tumor should be considered in differential diagnosis in case of indolent salivary gland mass, since it may require more invasive approach (e.g., total parotidectomy, adjuvant radiotherapy). It would like to highlight the role of multidisciplinary team to define the best therapy, tailored for the patient, as well as to give awareness to a rare but sometimes aggressive tumor.

Useless and limits of Postmortem CT (PMCT) in a complex case of preterm infant murder.

The present case-report empathizes the usefulness of post-mortem computed tomography (PMCT) in the detection of live birth signs in a baby found dead, comparing the results with standard autoptic, histologic and immunohistochemical examinations. The report describes the case of a new-born who was thrown out on the footpath from a window of the fifth floor according to the investigative police, whilst the mother has hidden herself immediately after childbirth. PMCT showed diffusely aerated lung parenchyma with signs of severe lung distress, air in the airways with no fluid inside, and air in the upper gastro-intestinal tract, in absence any resuscitation manoeuvres performed on the baby at delivery. PMCT underlined multiple fractures of the skull with degeneration of cerebral parenchyma. All these findings were confirmed by conventional autopsy and histological and immunohistochemical examinations, clinching the usefulness of PMCT in differentiating live births from stillbirths.

Juvenile sudden cardiac death due to congenital coronary ostial valve-like ridges: A case report and literature review.

Coronary artery anomalies are a heterogeneous group of congenital disorders affecting the coronary pattern with a characteristic (origin, number, number of hosts, course, etc.). They are rarely found in the population. We report the case of a 21-year-old male who died from sudden cardiac death caused by an isolated coronary ostial obstruction, secondary to a rare anomaly, the presence of a valve-like ridge consisting of a small fold in the Valsalva aortic sinus. The study provides a brief literature review on the pathophysiology, diagnosis, and clinical and medico-legal issues in coronary artery anomaly cases that may be helpful in forensic practice when dealing with sudden cardiac death in young people and highlights key points for further research and public health measures.

Totally laparoscopic treatment of intestinal tuberculosis complicated with bowel perforation: The first case report in worldwide literature with a brief review.

Introduction: Bowel perforation is a relatively rare presentation of abdominal tuberculosis, whose diagnosis is challenging but fundamental to minimize morbidity and mortality. Laparoscopy is considered an effective modality for diagnosis, but its role in surgical treatment is still not established. We reported the first worldwide case of totally laparoscopic treatment of intestinal tuberculosis complicated with bowel perforation. Case presentation: A 30-year-old man with a history of weight loss, preceded by 2 years of nonproductive cough, was admitted to the Infectious Disease Department with a presumed diagnosis of tuberculosis. A microbiological culture test confirmed the diagnosis, and the patient undertook quadruple antituberculous therapy. During hospitalization, he presented sudden abdominal pain, fever, and vomit. An abdominal CT scan showed small bowel perforation with granulomatous reaction. Laparoscopy was performed and revealed a 2 cm perforation on the medium ileum. Small bowel resection and totally intracorporeal side-to-side anastomosis were performed. No complication occurred until a clinical follow-up of 2 months. Conclusion: In consideration of the increasing incidence of intestinal TB in both underdeveloped and Western countries, the diagnosis of this pathology should be taken into account in high-risk patients. Probably, the diagnostic challenges and emergency settings of intestinal TB with perforation and peritonitis, together with the lack of standardized guidelines regarding surgical management, make the use of laparoscopy apparently arduous, but the known advantages of laparoscopy and its technical feasibility should make it a conceivable option for the treatment of complicated cases.

Case Report: Unusual Clinical Presentation of a Rare Cardiac Inflammatory Myofibroblastic Tumor in Children: The Differential Diagnosis With Pediatric Emergencies.

Introduction: There are still no guidelines about pediatric cardiac cancers. The purpose of this work is to provide new scientific data facilitating the differential diagnosis of a rare cardiac tumor with an unusual presentation, such as the cardiac inflammatory myofibroblastic tumor (IMT). Case Presentation: A 3-year-old male child presented with several symptoms including unconsciousness, vomiting, and drowsiness. A clinical and neurological examination revealed a unilateral (right) motor delay and positive unilateral Babinski sign. Electrocardiogram (ECG) was normal. Diagnostic Assessment: The total body computed tomography (CT) scans showed hypodensity in the left temporal-parietal lobe, a large hypodense area in the right frontal lobe, and a second area in the left frontal lobe were found with head CT. A magnetic resonance (MR) also noted cerebral areas of hypointensity. The echocardiographic images revealed an ovoid mass, adherent to the anterolateral papillary muscle. The histological exams, performed with hematoxylin-eosin, Masson's trichrome, Alcian blue PAS, Weigert and Van-Gieson stain, allowed observing the microscopic structure of the neoplastic mass. The immunohistochemical analysis was performed through subsequent antibodies: anti-vimentin, anti-actina, anti-ALK, anti-CD8, anti-CD3, anti-CD20, anti-kappa and lambda chains, and anti CD68 antibodies. The healthcare professionals diagnosed a cardiac IMT with brain embolism. Differential Diagnosis: The ventricular localization, observed through radiological exams, required a differential diagnosis with fibroma and rhabdomyoma, the presence of brain embolism with sarcoma, and its morphology with fibroma. Neurological symptoms might be attributed to encephalitis, primitive cerebral cancer, such as astrocytoma or neuroblastoma, cerebral metastases due to any malignancy, or embolic stroke. Conclusion: New studies are encouraged to better define IMT behavior and draw up guidelines confirming the crucial role of multidisciplinary approach and treatment protocol selected on the basis of the characteristics of the tumors, in the case of this rare type of cancer.