• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제22권4호
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• pp.392-399
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• 2019

Wilson disease a rare autosomal recessive inherited disorder of copper metabolism, is characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is often fatal if it is not recognized early and treated when it is symptomatic. Gitelman syndrome is also an autosomal recessive kidney disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. Hereditary sensory autonomic neuropathy type IV (HSAN-IV), a very rare condition that presents in infancy, is characterized by anhidrosis, absence of pain sensation, and self-mutilation. It is usually accompanied by developmental delay and mental retardation. We report a case of Wilson disease manifested as fulminant hepatitis, acute pancreatitis, and acute kidney injury in a 15-year-old boy comorbid with HSAN-IV and Gitelman syndrome. Such concurrence of three genetic diseases is an extremely rare case.

• Journal of Korean Dental Science
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• 제17권2호
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• pp.75-83
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• 2024

Stevens-Johnson syndrome (SJS) is a severe adverse cutaneous drug reaction seen rarely in clinical practice. Although relatively rare, the condition can be fatal. Mainly, it is caused by side effects of certain medications. Previous reports have associated Stevens-Johnson syndrome with abnormal root development, but the other long-term dental complications have rarely been reported. In this case, the patient developed SJS at the age of 5, and abnormal root development of the maxillary and mandibular first molars and mandibular incisors was observed, as well as impaction of the mandibular canine and enamel hypomineralization of multiple teeth. Accordingly, appropriate restorative treatment and orthodontic treatment were performed, and the clinical characteristics of this symptoms and its treatment were discussed in more detail. We aim to highlight the need for dentists to be aware of the potential dental complications of SJS and to enable early diagnosis and management of the condition to avoid undesirable sequelae.

• Journal of Trauma and Injury
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• 제19권2호
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• pp.178-182
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• 2006

Compartment syndrome has a wide spectrum from muscle pain to a life- threatening condition, such as acute renal failure and disseminated intravascular coagulation (DIC). Intracerebral hemorrhage (ICH) due to compartment syndrome has not been reported. We report a patient who presented with ICH leading to death. A 25-year-old female with no significant past history developed extensive compartment syndrome followed by rhabdomyolysis, acute renal failure, DIC, and ICH. Although the patient underwent a fasciotomy and hemodialysis and received aggressive resuscitation with massive transfusions of blood and intravenous fluids, she died. This case stresses the importance of early diagnosis and prompt treatment of compartment syndrome to prevent devastating complications.

• Journal of Chest Surgery
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• 제24권4호
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• pp.371-375
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• 1991

Postemetic rupture of the esophagus is an intrathoracic catastrophe which is universally fatal if untreated immediately. We have experienced one case of Boerhaave`s syndrome at the Thoracic & Cardiovascular Surgery Yonsei University College of Medicine. He was 56 years old male who complained severe chest-pain, dyspnea with sudden vomiting after alcohol. Esophagogram showed barium leakage through rupture site on lower esophagus into left thoracic cavity. He had taken repair of the rupture site of lower esophagus and wrapping it with the body of the stomach wall because of relatively clean rupture margin even though 48 hours following the rupture. He has been uneventful in post-operative courses & he discharged with good conditions.

• 대한기관식도과학회지
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• 제16권2호
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• pp.149-153
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• 2010

Lemierre syndrome, also known as postanginal sepsis, is a severe complication of an acute oropharyngeal infection that result in septic thrombophlebitis of the internal jugular vein with subsequent septicemia. This disease is relatively rare, but it has significant morbidity and is potentially fatal. Early diagnosis based on computed tomography with contrast enhancement is mandatory and immediate treatment including intravenous antibiotics, anticoagulants, or surgical approach should be considered. We report a case of Lemierre syndrome after deep neck infection which was successfully treated using antibiotics and anticoagulants.

• Journal of Chest Surgery
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• 제47권3호
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• pp.291-293
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• 2014

Acute aortic dissection (AAD) during pregnancy can be fatal to both the pregnant mother and the baby, particularly in patients with the Marfan syndrome. We report a case of the modified Bentall procedure in surgery for AAD in a 31-year-old pregnant woman at 24 weeks of gestation with the Marfan syndrome. The patient recovered well after the operation, but unfortunately, the fetus could not be saved.

• Journal of Dental Anesthesia and Pain Medicine
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• 제19권5호
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• pp.301-306
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• 2019

Mounier-Kuhn syndrome (MKS) is a disease characterized by dilation of the trachea and mainstem bronchi. Due to the risk of airway leakage, pulmonary aspiration, and tracheal damage, MKS can be fatal in patients undergoing tracheal intubation. Moreover, MKS may not be diagnosed preoperatively due to its rarity. In this case, a patient undergoing neurosurgery was incidentally diagnosed with MKS during general anesthesia. During anesthesia induction, difficulties in airway management led the anesthesiologist to suspect MKS. Airway leakage was resolved in this case using oropharyngeal gauze packing. Anesthesiologists should be aware of the possibility of MKS and appropriate management of the airways.

• Journal of Yeungnam Medical Science
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• 제40권2호
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• pp.198-201
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• 2023

Invasive sphenoid sinus aspergillosis can mimic Tolosa-Hunt syndrome (THS), leading to frequent misdiagnoses and potentially fatal consequences. We report a case of invasive sphenoid sinus aspergillosis initially misdiagnosed as THS. A 79-year-old man presented with right periorbital pain, ophthalmoplegia, and loss of vision. Initial evaluations including magnetic resonance imaging (MRI), were normal. He was first diagnosed with THS based on clinical features. The disease progressed despite high-dose intravenous steroid treatment, and an enhancing mass-like lesion was found in the right orbital apex, cavernous sinus, and sphenoid sinus on follow-up MRI. Aspergillosis was eventually confirmed by sphenoid sinus biopsy. The patient developed cerebral infarction and finally died despite being treated with amphotericin B. Given that invasive sphenoid sinus aspergillosis may initially resemble THS, high suspicion and rapid histological examination are important for diagnosis.

• Hip & pelvis
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• 제34권4호
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• pp.262-268
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• 2022

A fracture of the affected extremity in patients with Klippel-Trenaunay-Weber syndrome can be fatal due to massive bleeding and show poor results. A 42-year-old male presented with an old fracture of the right femoral shaft with metal failure. We planned an operation to remove the previously fixed plate and to perform re-fixation using an intra-medullary nail. Preoperative angiography was performed and the arteriovenous malformations were embolized in order to reduce the risk of bleeding. After angiography, the previously fixed plate was removed. After the operation, a second angiography was performed immediately and the venous malformation was embolized. One week after the first operation, a second operation was performed in order to reduce the fracture and to perform re-fixation using an intramedullary nail. The patient is being followed without major complication over a period of seven years after surgery. We recommend careful planning of preoperative and postoperative angiography and embolization in order to reduce the risk of bleeding in patients with Klippel-Trenaunay-Weber syndrome.

• Clinical and Experimental Pediatrics
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• 제57권12호
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• pp.538-541
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• 2014

Varicella is usually considered to be a benign disease in healthy children; however, serious complications can occur such as necrotizing fasciitis and toxic shock syndrome. We describe a 38-month-old girl with necrotizing fasciitis and streptococcal toxic shock syndrome following varicella. She was previously healthy and vaccinated against varicella at 12 months of age. She had been diagnosed with varicella three days prior to presenting at our facility; she developed fever, vomiting, and painful swelling on her left flank. Her skin lesions worsened, she became lethargic, and had episodes of hypotension and coagulopathy. Necrotizing fasciitis on the left abdominal wall, buttocks, and left thigh was diagnosed by magnetic resonance imaging, and group A Streptococcus was isolated from a tissue culture. She was diagnosed as necrotizing fasciitis and streptococcal toxic shock syndrome, and successfully treated with repeated surgical debridement and fasciotomy, in addition to intensive antibiotics. Our experience suggests that necrotizing fasciitis in patients with varicella should be considered to be a rare complication even with widespread vaccine use. Early diagnosis and intensive treatment are required to prevent a fatal outcome.