Eatonabildgaard2502

A 23-year-old young woman with a known history of valvular heart disease of rheumatic origin, post balloon mitral valvotomy 5 years ago, presented with fever, palpitations and breathlessness. ECG showed atrial fibrillation with fast ventricular rate. A 2D transthoracic echocardiography showed severe restenosis of mitral valve and moderate left ventricular dysfunction. She was admitted for evaluation of fever and control of the ventricular rate. She sustained cardiac arrest due to unknown cause and was resuscitated. When the patient sustained another cardiac arrest, torsades de pointes was detected on the monitor. Blood parameters showed hypomagnesaemia, hypocalcaemia and hypokalaemia, causing functional hypoparathyroidism which was treated with intravenous magnesium, oral calcium and vitamin D supplements. Timely detection of a tachyarrhythmia due to a ventricular origin was life saving, which is rarely seen in patients with rheumatic heart disease and mitral stenosis.Abdominal pain is a common presentation to the emergency department (ED) and the differential diagnoses is broad. Intussusception is more common in children, with only 5% of cases reported in adults. 80%-90% of adult intussusception is due to a well-defined lesion resulting in a lead point, whereas in children, most cases are idiopathic. The most common site of involvement in adults is the small bowel. Treatment in adults is generally operative management whereas in children, a more conservative approach is taken with non-operative reduction. We present a case of a 54-year-old woman who presented to our ED with severe abdominal pain and vomiting. CT of the abdomen revealed a jejunojejunal intussusception. The patient had an urgent laparoscopy and small bowel resection of the intussusception segment was performed. Histopathological examination of the resected specimen found no pathologic lead point and, therefore, the intussusception was determined to be idiopathic.An 81-year-old man presented with chronic cough, which did not respond to the initiation of combined bronchodilator/inhaled corticosteroid therapy. CT of the chest revealed calcified nodules throughout the trachea sparing the posterior membrane, and tiny peripheral parenchymal nodules with basal interlobular septal thickening and calcification. Flexible bronchoscopy demonstrated endobronchial nodularity from the proximal trachea to the mid-sections of both main bronchi, sparing the posterior membrane. Histopathology revealed submucosal fibrous connective tissue and benign bone, confirming a diagnosis of tracheobronchopathia osteochondroplastica. CT was consistent with a concurrent diagnosis of dendriform pulmonary ossification. These two rare phenomena often present with non-specific symptoms, and the diagnosis can be made with imaging in both conditions. There is a role for bronchoscopy in the diagnosis of tracheobronchopathia osteochondropastica, and the endobronchial appearance could be diagnostic. The concurrence of both phenomena in our case might represent activity of a common cellular pathway of ossification in both sites.McCune-Albright syndrome (MAS), a rare genetic disorder, affects multiple organs and classically presents with the triad of polyostotic fibrous dysplasia (FD), skin hyperpigmentation (café-au-lait spots) and precocious puberty. Diagnosis occurs when patients manifest at least two of these three symptoms. We describe a 4-year-old girl who was admitted to our hospital due to recurrent vaginal bleeding, initially diagnosed as precocious puberty. On brain MRI, abnormalities in the maxillary and occipital bones were compatible with FD. Clinical examination after craniofacial bone lesions and clinical signs indicated MAS revealed abnormally pigmented macules on the neck and back, which were initially overlooked. No abnormal hormone tests were observed. Gefitinib order Precocious puberty is the most common MAS-associated symptom that results in the admission to the hospital, whereas the clinical manifestation of FD in the first years of life is usually equivocal and probably has not been discovered by parents. Thus, comprehensive medical examinations are necessary to obtain a prompt and proper diagnosis.Head and neck schwannomas are a rare form of tumour arising from the nerve sheath. They are often slow growing and asymptomatic, posing a diagnostic challenge for clinicians. The great auricular nerve (GAN) provides cutaneous innervation to the lower pinna, ear lobule and the inferior periauricular area. Hence, surgical management of GAN schwannomas can have sensory and functional dysfunction postoperatively, necessitating good counselling and communication with the patient. We present the first documented case of GAN schwannoma in the West, with literature review and considerations for surgical management.Dysferlinopathies are autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene (DYSF). A 33-year-old man was born to a non-consanguineous couple. At the age of 25 he stared to feel weakness of the distal lower limbs and also experienced episodes of rhabdomyolysis. Electromyography showed a myopathic pattern, and muscle biopsy revealed dystrophic changes with absence of dysferlin. Genetic analysis was positive for a mutation in the c3367_3368del DYSF gene (p.Lys1123GLUFS*2). After 8 years of disease evolution the symptomatology worsened. This is the first report of this mutation of the DYSF gene identified in a non-consanguineous Portuguese family, studied over 8 years. We believe the mutation is responsible for the Miyoshi myopathy. Disease progression cannot be predicted in either the patient or carrier family because there are no similar cases previously described in the literature.The formation of a light scattering interlenticular membrane (ILM) is a known complication of polypseudophakia and has been particularly noted with the use of dual intracapsular Alcon AcrylSof intraocular lenses (IOLs). The treatment options for this condition have largely been restricted to either NdYAG laser membranotomy or explantation of the dual IOL complex. In this case report, we describe an unusual case of ILM in a 76-year-old woman whose ILM had formed between her primary intracapsular IOL and her piggyback sulcal IOL. Furthermore, we describe vitreoretinal interlenticular membranectomy (VIM), a novel technique involving a translimbal anterior interlenticular membranectomy using vitreoretinal instrumentation. There were no intraoperative or postoperative complications. Postoperative best-corrected visual acuity was 6/4, maintained for 3 years of follow-up. VIM is offered as a management option for surgeons to address ILM when NdYAG laser therapy fails, and the IOLs cannot be safely explanted.