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The vascular type of Ehlers–Danlos syndrome is an autosomal dominant connective tissue disorder caused by a mutation in the COL3A1 gene encoding pro-alpha1 chain of type III collagen. The vascular type of Ehlers–...
Horner’s syndrome is a very rare complication following surgery of the thyroid gland with only a handful of cases reported in the literature. Exact pathophysiology of post-thyroidectomy Horner’s syndrome is no...
Because of its high rate of early recurrence and its poor prognosis, long-term survival after cholangiocarcinoma is rare; therefore, only limited information on patients surviving more than 5 years after surgi...
Multifocal choroiditis with panuveitis is a rare disease. The educational merit of this case presentation results from the good documentation and the impressive ocular fundus pictures.
Scleroderma is a chronic connective tissue disorder with unknown etiology. It is characterized by excessive deposition of extracellular matrix in the connective tissues causing vascular disturbances which can ...
Anti-N-methyl-D-aspartate receptor encephalitis is a recently discovered disease entity of paraneoplastic limbic encephalitis. It largely affects young women and is often associated with an ovarian teratoma. I...
Epithelioid sarcoma is a rare, high-grade malignant tumor of the soft tissue. The incidence of local recurrence, regional lymph node involvement, and distant metastases is high. Epithelioid sarcoma is most oft...
Secondary abdominal compartment syndrome is well known as a life-threatening complication in critically ill patients in an intensive care unit. Massive crystalloid fluid resuscitation has been identified as th...
Massive gastrointestinal bleeding in children, mostly caused by esophageal varices secondary to chronic liver disease, is uncommon. Dieulafoy lesion in the gastrointestinal tract is a rare but important cause ...
Rectus sheath hematoma is a rare clinical diagnosis, particularly in pregnancy. Due to unspecific symptoms, misdiagnosis is likely and could potentially endanger a patient as well as her fetus.
Avascular necrosis after arthroscopic surgery of the knee has already been published. The purpose of this article is to report on the frequently misdiagnosed entity of osteonecrosis of the medial tibial plateau.
Intramedullary abscess is a rare neurosurgical condition that usually arises in the setting of penetrating trauma to the spinal cord, infected congenital dural sinuses, or tuberculosis.
Omental torsion is a rare and very unusual cause of acute abdominal pain. If often mimics other acute pathologies and it is very difficult to diagnose preoperatively, which can lead to deterioration of the pat...
Congenital complete heart block is a life-threatening condition which is highly associated with autoimmune and connective tissue disorders. Presence of maternal autoantibodies for associated conditions increas...
Inguinal hernias in women of reproductive age containing the ovary are very rare. When they occur in this age group, they are mostly associated with malformations of the urogenital system. Prompt surgical inte...
We report the case of a giant intrathyroidal parathyroid adenoma weighing 59 g in a young woman presenting acutely with severe hypercalcemia requiring correction and adequate preoperative management prior to s...
Left atrial thrombi have traditionally been treated with heparin and warfarin, and many physicians have limited experience with direct oral anticoagulants such as apixaban. Furthermore, the efficacy of apixaba...
Oral mucosal melanoma is a rare disease with a relatively poor prognosis. Carbon ion radiotherapy has been shown to be effective against radiotherapy-resistant tumors owing to its excellent dose concentration ...
Systemic mastocytosis is a rare myeloproliferative disease characterized by the uncontrolled proliferation of aberrant mast cells. It has varying clinical manifestations. For unknown reasons, pulmonary localiz...
Ozurdex is a 700 mcg dexamethasone intravitreal implant, approved for the management of macular edema secondary to retinal vein occlusion, and other related pathoglogiesAnterior chamber dislocation of Ozurdex ...
Reversible left ventricular dysfunction, also termed Takotsubo cardiomyopathy, is rarely reported in Addison’s disease after initiation of hormone replacement therapy. The pathogenesis of this cardiomyopathy i...
Chordoma is a rare invasive bone tumor that may occur anywhere along the neuraxis. A total of three primary histological varieties have been identified: conventional, chondroid, and dedifferentiated.
Pheochromocytomas are rare catecholamine-producing neuroendocrine tumors. Hypertension secondary to pheochromocytoma is often paroxysmal, and patients occasionally present with sudden attacks of alternating hy...
Malignant steroid cell tumors of the ovary are rare and frequently associated with hormonal abnormalities. There are no guidelines on how to treat rapidly progressive Cushing’s syndrome, a medical emergency.
Percutaneous epidural neuroplasty with a Racz catheter is widely used to treat radicular pain caused by spinal stenosis or a herniated intervertebral disc. The breakage or shearing of an epidural catheter, par...
Evidence from clinical trials shows rivaroxaban to be effective for the treatment of deep vein thrombosis. Switching to rivaroxaban following failure of indirect anticoagulants in deep vein thrombosis has not ...
Gram-negative microorganisms are uncommon pathogens responsible for infective endocarditis. Pseudomonas mendocina, a Gram-negative water-borne and soil-borne bacterium, was first reported to cause human infection...
Pulmonary sarcomas are uncommon accounting for 0.5 % of all primary lung cancers. Undifferentiated sarcomas account for up to 20 % of soft tissue sarcomas. A lung tumor revealed to be an undifferentiated sarco...
A pseudohernia is an abdominal wall bulge that may be mistaken for a hernia but that lacks the disruption of the abdominal wall that characterizes a hernia. Thus, the natural history and treatment of this cond...
Hypernatremia is a frequent occurrence among hospitalized patients. Severe hypernatremia is associated with mortality rates of over 60 %. Extreme hypernatremia, defined as sodium levels >190 mmol/l, is a rare ...
Intestinal angina is characterized by recurrent postprandial abdominal pain and anorexia. Commonly, these symptoms are caused by severe stenosis of at least two vessels among the celiac and mesenteric arteries...
Splenic artery aneurysms are the commonest visceral and third most common abdominal artery aneurysms, having a strong association with both pregnancy and multiparity. Here we report possibly the first case of ...
Effective anticoagulation routinely precludes patients from receiving intravenous thrombolysis with recombinant tissue plasminogen activator to reverse severe symptoms of ischemic stroke. We report what we bel...
Mandibular pseudocarcinomatous hyperplasia is a rare and generally benign pathology. We report on one of these rare cases.
Acute esophageal necrosis or Gurvits syndrome is a rare clinical condition characterized by necrotic esophageal mucosa with an abrupt end at the gastroesophageal junction. Its etiology is multifactorial, but m...
Pulmonary surfactant is a complex mixture of lipids and proteins. Mutations in surfactant protein-C, surfactant protein-D, and adenosine triphosphate-binding cassette subfamily A member 3 have been related to ...
Although cervix carcinoma is one of the most common malignancies in women, hematogenous metastases are relatively not common. Cutaneous metastases, in particular, are unusual even at an advanced stage of disea...
Esophageal Crohn’s disease is reported as a rare manifestation, although its prevalence may be underestimated because upper endoscopies are not routinely performed in asymptomatic adults. Tofacitinib, an oral ...
The incarceration of an appendix within an inguinal hernia sac is known as Amyand’s hernia. Appendicitis in Amyand’s hernia accounts for 0.1 % of the cases. An aggressive necrotizing infection of the genitalia...
This is the first documented case of a patient with hemophagocytic lymphohistiocytosis in association with coeliac disease. There was complete clinical and biochemical remission of hemophagocytic lymphohistioc...
We herein present a case in which a Toxoplasma cyst was found in a transbronchial biopsy specimen from an immunocompetent patient with negative serology for the parasite.
Papillon–Lefèvre syndrome is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and aggressively progressing periodontitis leading to premature loss of deciduous and permanent den...
It is well known that cytomegalovirus esophagitis occurs in immunosuppressed patients. However, few reports have described cytomegalovirus esophagitis occurring during chemoradiotherapy for esophageal cancer.
Tel Hashomer camptodactyly syndrome is a rare disease and only a few cases have been reported. Dermatoglyphics potentially provide relevant phenotypic biomarkers that were initially noted as a vital clinical f...
A sinus of Valsalva aneurysm is a rare cardiac anomaly which may be acquired or congenital. The main associated symptoms are conduction disturbances, myocardial ischemia, and syncopes.
The act of deliberate injury to one’s own body without the help of others is a well-known phenomenon in psychiatric patients. Insertion of foreign bodies into one or more orifices is not uncommon but insertion...
Arrhythmias originating from the right ventricular outflow tract are generally considered benign but cases of cardiac arrest have been described, usually associated with polymorphic ventricular tachycardia or ...
Tooth replantation after traumatic avulsion or transplantation is a challenge in oral surgery. A special method named auto-alloplastic replantation, in which a titanium post is used after extraoral endodontic ...
Interferon alpha is a widely used therapeutic agent in the treatment of hepatitis C virus infection. Clinical thyroid disease is seen in nearly 15 % of patients receiving interferon alpha for hepatitis C virus...
Leiomyosarcoma of the rectum is a rare entity that comprises less than 0.1 % of all rectal malignancies. Given the uncommon nature of this tumor and the controversy about its treatment we report one case and r...
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Journal of Medical Case Reports