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Ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome (OMIM No. 129900) is characterized by the triad of ectrodactyly, ectodermal dysplasia and facial clefting (of the lip and/or palate). Holoprosence...
Iliocaval fistulas can complicate an iliac artery aneurysm. The clinical presentation is classically a triad of hypotension, a pulsatile mass and heart failure. In this instance, following presentation with mu...
McCune-Albright syndrome is a complex inborn disorder due to early embryonal postzygotic somatic activating mutations in the GNAS 1 gene. The phenotype is very heterogeneous and includes polyostotic fibrous dyspl...
Chromosomal aberrations of chromosome 16 are uncommon and submicroscopic deletions have rarely been reported. At present, a cytogenetic or molecular abnormality can only be detected in 55% of Rubinstein-Taybi ...
Spontaneous fractures of the spine are a common entity. They usually occur in older people with osteoporosis. This case is presented on account of its rarity. To the best of the authors' knowledge only one cas...
Melioidosis, endemic in Thailand and in the Northern Territory of Australia is an emerging infectious disease in India which can present with varied forms. A case of melioidosis, presenting as a rare anterior ...
Atlantoaxial rotatory subluxation is rarely caused by trauma in adults. Usually, the treatment of choice is traction using Halo/Gardner-Wells fixation devices for up to six weeks.
Primary intracardiac tumors are rare and approximately 50% are myxomas. The majority of myxomas are located in the left atrium and have variable clinical presentation. We report a case of a large myxoma in the...
Cleidocranial dysplasia is a rare congenital defect of autosomal dominant inheritance caused by mutations in the Cbfa1 gene, also called Runx2, located on the short arm of chromosome 6. It primarily affects bones...
Non-Hodgkin lymphoma (NHL) can involve the paratesticular organs as the primary disease, as primary testicular lymphoma that secondarily involves the paratesticular structures, as the initial site of presentat...
Squamous cell carcinoma is one of the most common malignant tumors of the skin and oral mucosa. However, squamous cell carcinoma involving near total upper and lower lip and oral commissure is rarely seen in t...
Providing information on cancerous tissue samples during a surgical operation can help surgeons delineate the limits of a tumoral invasion more reliably. Here, we describe the use of metabolic profiling of a c...
A chondrosarcoma originating from the hyoid bone is very rare. Here, we describe a case of low-grade chondrosarcoma of hyoid origin and discuss its preoperative imaging features, including those on positron em...
Chlamydophila pneumoniae is a respiratory pathogen known to infect the upper and lower respiratory tracts. Infection severity can range from sub-clinical pulmonary infection to acute respiratory distress syndrom...
Adolescents with cerebral palsy often do not need a specific rehabilitative treatment; however, when specific needs are expressed, clinicians should listen and try to answer them.
Kerosene is a freely accessible hydrocarbon used in Sri Lankan (and other Asian) households for cooking and for lighting lamps. Kerosene poisoning is rarely reported among adults and its toxicological effects ...
Hutchinson-Gilford progeria syndrome is a rare genetic disorder. It is reported to be present in one in eight million and is characterized by severe growth failure, early loss of hair, lipodystrophy, scleroder...
A case of bilateral Peters anomaly with bilateral post axial polydactyly, bilateral camptodactyly, and club foot was examined in a neonatal Kenyan baby girl of African descent who had been delivered in the hos...
Chronic relapsing inflammatory optic neuropathy is a recently described form of recurrent isolated subacute optic neuropathy. The condition is highly responsive to systemic steroid treatment and prone to relap...
Superior mesenteric artery syndrome is a rare cause of upper intestinal obstruction resulting from compression of the duodenum by the superior mesenteric artery and abdominal aorta.
Development of a sarcomatous component in a germ cell tumor is an uncommon phenomenon. Most cases reported have a grim prognosis. Growing teratoma syndrome is also an uncommon phenomenon and occurs in approxim...
We report a rare coronary anomaly presenting with aborted sudden death in an octogenarian. An anomalous left coronary artery from the pulmonary artery is a rare coronary anomaly which usually presents in the f...
We report on a case of autoimmune pancreatitis presenting as pancreatic head cancer, which is extremely rare in Iran. Currently, on the PubMed database, no such cases exist.
Enteropathic arthritis is one of the recognized extraintestinal manifestations of inflammatory bowel disease and affects up to 25% of patients. The treatment options for refractory disease were rather limited ...
Laparoscopic adjustable gastric banding is the most frequently performed bariatric procedure for the treatment of morbid obesity and is associated with low morbidity and mortality. Complications related to obe...
Horner's syndrome has a variety of etiologies ranging from benign to serious life-threatening conditions and has been infrequently reported as a presenting symptom of patients with lymphoid neoplasms. Only one...
Aqueductal stenosis may be caused by a number of etiologies including congenital stenosis, tumor, inflammation, and, very rarely, vascular malformation. However, aqueductal stenosis caused by a developmental v...
An 82-year-old Caucasian woman had remained in a persistent vegetative state after a coma of seven months duration, which occurred after a stroke with hemiplegia, nine years previously. The persistent vegetati...
Treatment with various biological agents in disease states such as rheumatoid arthritis has been associated with multiple side effects. Whereas many of these are frequently reported in the literature, hypoglyc...
Herniation of the liver through an anterior abdominal wall hernia defect is rare. To the best of our knowledge, only three cases have been described in the literature.
Prosthetic joint infection due to Mycobacterium tuberculosis is occasionally encountered in clinical practice. To the best of our knowledge, this is the first report of a prosthetic joint infection due to Mycobac...
Pegvisomant-related lipohypertrophy may revert when changing the site of injection, but the lipohypertrophy may recur at the new site of injection. The strength of evidence, however, is weak and comes from inf...
Until now, studies on paracetamol given intravenously have mainly been performed with the pro-drug propacetamol or with paracetamol in preterm babies above 32 weeks of gestation. Studies in these babies indica...
Multiple system atrophy is a late, adult-onset α-synucleinopathy with no data on the effect of pregnancy on the disease course. Early stage multiple system atrophy can be difficult to distinguish from Parkinso...
Thrombotic thrombocytopenic purpura-hemolytic uremic syndrome is a life-threatening condition with various etiopathogeneses. Without therapy approximately 90% of all patients die from the disease.
Intracranial schwannomas unrelated to the cranial nerves are uncommon. We report a new case of tentorial schwannoma unrelated to the cranial nerves, with extension into the pons. A literature review with discu...
Primary hyperparathyroidism is a common endocrine disorder characterized by elevated parathyroid hormone levels, which cause continuous osteoclastic bone resorption. Giant cell tumor of bone is an expansile os...
Tracheo-brachiocephalic artery fistulae are critical long-term complications after tracheostomy, reported in 0.6% of patients within three to four weeks after the procedure. In 30% to 50% of cases there is som...
Pericardial effusion as a complication of malignant gynecological disorders is rare. Few cases of endometrial cancer, squamous cell carcinoma of the cervix, ovarian cancer and uterine carcinosarcoma have been ...
Gefitinib and erlotinib have minor differences in their chemical structures, and thus it remains unclear whether the hepatotoxicity induced by one compound is affected by the other. The case of a patient who d...
Pectus excavatum is the most common congenital deformity of the anterior chest wall that, under certain conditions, may pose functional problems due to cardiopulmonary compromise and exercise intolerance.
Although a majority of splenic ruptures present acutely with a known mechanism of injury, a minority of patients present days to weeks following trauma with a delayed rupture. Also uncommon is the atraumatic r...
Papillary thyroid carcinoma and medullary thyroid carcinoma are two different thyroid neoplasia. The simultaneous occurrence of medullary thyroid carcinoma and papillary thyroid carcinoma as a collison tumor w...
The Galeazzi fracture-dislocation was originally described by Sir Astley Cooper in 1822 but was named after Italian surgeon Ricardo Galeazzi in 1934. It is an injury classified as a radial shaft fracture with ...
Gallbladder torsion is a rare, but potentially lethal disease, in which early recognition is crucial.
Multiple endocrine neoplasia 2B, a rare autosomal dominant syndrome, is characterized by early onset of medullary thyroid carcinoma, pheochromocytoma, marfanoid habitus and mucosal neuromas of the tongue, lips...
Persistent Mullerian duct syndrome is a rare form of male pseudo-hermaphroditism characterized by the presence of Mullerian duct structures in an otherwise phenotypically, as well as genotypically, normal man;...
Smoking cessation programs are useful in helping smokers to quit, but smoking is a very difficult addiction to break and the need for novel and effective approaches to smoking cessation interventions is unques...
There are approximately 7000 new cases of tuberculosis every year in the UK, the majority of which are pulmonary. Approximately 5% affect the lymph nodes in immunocompetent patients. Scrofula is an old term us...
Congenital choanal atresia is a relatively rare deformity, especially bilateral congenital choanal atresia. We report a case of bilateral congenital choanal atresia in a 22-year-old Chinese man, who was also d...
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Journal of Medical Case Reports