Cerebral Cavernous Malformations (CCMs) are vascular lesions involving brain capillaries. They may occur sporadically or be inherited as autosomal dominant character. Due to incomplete penetrance, CCMs incidence is underestimated and, overall sporadic cases, are often accidentally diagnosed. Rarely CCMs are linked to other pathological conditions. Here we present the first case in literature of a young woman affected by sporadic CCM, pituitary adenoma, Hashimoto thyroiditis and mental illness of unknown etiology. Symptoms’ analysis suggests that she may suffer of Hashimoto encephalopathy (HE), a condition that in very few cases develops together with Hashimoto thyroiditis. Genetic bases of HE are still unknown and symptomatology is very heterogeneous. This paper is a preliminary report of the case and is focused on complexity of clinical manifestations that makes the diagnosis uncertain. If our hypothesis will be confirmed by further analysis, our aim will be to clarify genetic causes of HE.
The authors describe a case of cerebral venous sinus thrombosis following subarachnoid anaesthesia, characterized by operative difficulties and lack of patient collaboration. After anaesthesia, the patient reported a positional headache and on the 5th day following surgery, he developed a frontal tensive headache with dysphoric and depressive symptoms. On the 9th day he presented with emesis, hypostenia of the upper left limb and ipsilateral positive Babinsky. The diagnosis was made only on the 10th day. Genetic analyses showed a homozygous mutation of methylene-tetrahydrofolate-reductase associated to hyperhomocysteinemia (21,7μM). The recurrence of post-dural puncture headaches is very frequent in patients undergoing subarachnoid anesthesia, but special attention is required in the event of headache, as well as associated clinical signs and other risk factors, in order to achieve a precocious diagnosis and allow the physician to start a suitable therapy.
The gradual increase in shoulder implants has resulted in a parallel increase in periprosthetic fractures of the humerus. Currently, there are no definite certainties about the best methods of treatment and there are no adequate devices to ensure optimal healing. Undoubtedly, the multitude of experience in treating femoral periprosthetic fractures can be a guide used to improve the approach to periprosthetic fractures of the humerus. The use of metallic fixation devices, in combination with bone grafts, could represent a favourable mixed mechanical and biological solution in the treatment of periprosthetic fractures of the humerus. This article presents a case of periprosthetic humeral fracture in a 77-year-old woman with reverse shoulder prosthesis.
Clinical use of Amplatzer Vascular Plug in central and peripheral vascular system has been extensively described in the literature. We present a case of occlusion of left vertebral artery (LVA) performed by deploying an Amplatzer Vascular Plug, in addition to microspheres plus coils for embolization of the deep cervical branches that feed a cervical metastasis involving the left VA. After the endovascular intervention, the patient underwent surgical resection of the lesion. The application of the device, the use of multiple embolic materials, as well as the angiographic and clinical results of the procedure, were evaluated because not previously reported in the literature. Hence, we provide an updated literature review about clinical use of Amplatzer Vascular Plug in supra-aortic vessels.
Munchausen syndrome is a complex type of abuse, which is often underdiagnosed or misdiagnosed in clinical practice, and has harmful consequences for children. Its relationship with child abuse, of which it is a variety, must be recognized in clinical and forensic practice. The authors report herein two observed cases of different types of Münchausen syndrome by proxy (MSbP). The first, is the most severe form ofMSbP, with induced, true illness and related pathological symptoms into victim. The second case is a moderate form, much more complex to detect, in which a perpetrator parent simulates and aggravates the child‘s illness. Adequate training of health professionals and investigators is essential in revealing cases of MSbP. Diagnosis must be based on the study of the different forms of "abuse" and the knowledge of clinical protocols used to validate any suspected behaviour which could be potentially harmful to the child. Moreover, a lack of training may lead to misleading interpretations of medical history interpretation and fallacious conclusions. Our study aims to review the features that are to be considered in a suspected case of MSbP, in accordance with a recently updated consensus statement by the Committee on Child Abuse and Neglect from the American Academy of Pediatrics.
The pseudo-aneurysm is an encapsulated hematoma of post-traumatic origin which is in communication with the lumen of the artery of relevance. We present a rare case of pseudo-aneurysm occurring after superior thyroid trans-esophageal echocardiography (TEE) and external cardioversion. Singular occurrence in otolaryngology, if not recognized early a pseudo-aneurysm can result in dramatic events such cataclysmic bleeding or acute occlusion of the upper airway.
Prune Belly Syndrome (PBS) is a rare congenital syndrome characterized by three main features: abdominal wall flaccidity, bilateral intra-abdominal cryptorchidism, and urologic abnormalities.
In this study we describe the case of a 2,600 gr baby, born at the Central Hospital of Beira, Mozambique.
Our study confirms that in a low-income country only conservative management can be delivered, and therefore prognosis is worse and less effective than high-income countries.
A 16-year-old girl had been undergoing intensive chemotherapy (ALL 2009) for Early T -cell precursor acute lymphoblastic leukemia (ETP). At 22:00 of the 26th day of induc-tion phase IA, she was found to have developed febrile neutropenia. After blood cul-tures were obtained, empirical therapy with ceftriaxone and amikacin was initiated, according to internal protocol. Clinical condition improved and she remained afebrile for 24 hours. The following day, at 04:00, she suddenly developed a cough with hemoptysis. At this time, fibrinogen was 167 mg/dL, and platelets 35000/uL. A chest X-ray showed thickening in the middle of the right lower zone, and a chest CT scan showed a nodule with central hypodense area (necrotic-colliquative evolution of the infiltrate). In spite of supplementation with platelets, red blood cells, plasma, fibrino-gen, antithrombin, and activated factor VII, the patient's clinical condition worsened rapidly and the pulmonary hemorrhage became uncontrollable. She died at 12:00. Blood cultures yielded a strain of Pseudomonas aeruginosa, with reduced sensitivity to antibiotics.
Aspergillosis is the most frequent infectious cause of massive pulmonary hemorrhage in pediatric leukemias, while bacterial pneumonia or TBC are by far less frequent. As-pergillus requires the presence of neutrophils to cause hemoptysis or cavitation, while bacteria (Gram-positive or -negative) can cause pulmonary necrosis also in patients with neutropenia.
Introduction: Thoracic splenosis is an acquired rare condition, resulting from het-erotopic autotransplantation of splenic parenchyma into chest, usually after traumatic spleen and diaphragm rupture. Methods and Results: This paper describes the thoracic splenosis, as an incidental di-agnosis and asymptomatic condition, 34 years after a thoracoabdominal trauma in a patient who underwent radiological investigations due to a 15 kg weight loss in the previous four months: the only abnormalities found were thoraco-parapericardial and abdominal nodules of splenosis. Discussion: Thoracic splenosis is a rare condition, usually following a thoracoabdomi-nal trauma with concomitant lesions of the spleen and diaphragm, which allow tho-racic implantation of splenic tissue. Patients are generally asymptomatic, and the con-dition is discovered incidentally during radiological investigations, which allow certain diagnosis without using invasive methods. Excision of splenosis should be considered for symptomatic patients or unconfirmed diagnosis. Conclusions: Thoracic splenosis is a rare condition. Imaging investigations allow to diagnose the condition, and excision of splenosis is not suggested for asymptomatic patients
Intra-abdominal desmoplastic small round cell tumors are rare aggressive neoplasms, with a very poor prognosis, observed in young adults with a male predominance. Their etiology is unknown and the diagnosis is based on histopathology, immunohistochem-istry and cytogenetics. Histological analysis shows typically clusters of round cells separated by abundant desmoplastic stroma. These tumors exhibit a multi-marker im-munohistochemistry profile expressing the three embryonic lineages: epithelial, neural and mesenchymal. They are positive for desmin and cytokeratin and are characterized by a specific recurring translocation t (11: 22) (q12 - p13), which involves EWSR1 WT1 gene. They are usually fatal despite an aggressive multidisciplinary therapeutic approach. Hereby we report the case of a 39 year old man who presented with an in-tra-abdominal desmoplastic small round cell tumor. The diagnosis was made by radio-logical, histological and immunohistochemistry profile analyses of a CT scanguided bi-opsy. This article also includes a mini review of the literature.