OpenMed/multicare-articles huggingface dataset:
Cardiocerebral channelopathy caused by KCND3 mutation in a child: A case report
Authors: Yi Zhang, He Jiang, Xiao-Mei Li
Journal: Front Pediatr (2022)
Keywords: atrial fibrillation, cardiocerebral channelopathy, early repolarization syndrome, epilepsy, quinidine
MeSH terms: Case Reports

Early repolarization syndrome is rare in children. Mutation of genes encoding ion channels could display mixed electrophysiological phenotype of Kv4.3 including both cardiac phenotype (early repolarization syndrome, atrial fibrillation) and cerebral phenotype (epilepsy, intellectual disability). This situation is rare and was named as cardiocerebral channelopathy. Here, we report a case of an 11-year-old-girl with cardiocerebral channelopathy caused by KCND3 mutation, who was successfully treated with oral quinidine, metoprolol and implantable cardioverter-defibrillator. Clinicians should be vigilant on the risk of cardiogenic syncope and sudden cardiac death in a patient with epilepsy, intellectual disability and early repolarization pattern.
Minimally invasive approach to eliminate pyogenic granuloma: a case report
Authors: B Chandrashekar
Journal: Case Rep Dent (2012)
MeSH terms: Case Reports

Pyogenic granuloma is one of the inflammatory hyperplasia seen in the oral cavity. The term is a misnomer because it is not related to infection and arises in response to various stimuli such as low-grade local irritation, traumatic injury, or hormonal factors. It is most commonly seen in females in their second decade of life due to vascular effects of hormones. Although excisional surgery is the treatment of choice for it, this paper presents the safest and most minimally invasive procedure for the regression of pyogenic granuloma.
Atresia of the aortic arch in 4-year-old child: a clinical case study
Authors: Vittoria Nigro Stimato, Dominique Didier, Maurice Beghetti, Cécile Tissot
Journal: Front Pediatr (2015)
Keywords: aortic arch anomalies, atresia aortic arch, case report, congenital heart disease, magnetic resonance imaging

Atresia of the aortic arch is a rare congenital heart defect with a high mortality when associated with other intracardiac defects. Cardiac magnetic resonance (CMR) provides the exact anatomy of the aortic arch and collateral circulation and is useful to diagnose-associated aortic arch anomalies. This report describes the case of a 4-year-old child with atresia of the aortic arch, referred to our institution with the diagnosis of aortic coarctation and bicuspid aortic valve. On clinical exam, the femoral pulses were not palpable and there was a significant differential blood pressure between the upper and lower limbs. The echocardiography showed a severely stenotic bicuspid aortic valve but was limited for the exact description of the aortic arch. CMR showed absence of lumen continuity between the ascending and descending aorta distal to the left subclavian artery, extending over 5 mm, with the presence of a bend in the arch and diverticulum on either side of the zone of discontinuity, suggesting the diagnosis atresia of the aortic arch rather than coarctation or interruption. The patient benefited from a successful surgical commissurotomy of the aortic valve and reconstruction of the aortic arch with a homograft. The post-operative CMR confirmed the good surgical result. This case emphasizes the utility of CMR to provide good anatomical information to establish the exact diagnosis and the operative strategy.
Metastatic Gastrointestinal Adenocarcinoma with Osteoblastic Activity: A Case Report of Esophageal and Colonic Primaries
Authors: Brett Matthew Lowenthal, Ahmed S Shabaik, Mark A Valasek
Journal: Case Rep Pathol (2016)

Adenocarcinoma with osteoblastic metastases is classically seen in prostate, breast, and lung primaries. Less common primary sites include thyroid, kidney, and stomach. We present two cases of primary gastrointestinal adenocarcinoma with metastatic osteoblastic activity from two previously unreported sites. The first case represents an esophageal adenocarcinoma arising in a background of intestinal metaplasia that metastasized with osteoblastic activity to the deltoid muscle. The second case demonstrates a Stage IV sigmoid colon adenocarcinoma with osteoblastic metastases to the liver and lymph nodes. The findings indicate that metastases from various gastrointestinal primary adenocarcinomas can have prominent bone formation.
Abdominal pregnancy - Case presentation
Authors: R Bohiltea, V Radoi, C Tufan, I A Horhoianu, C Bohiltea
Journal: J Med Life (2015)
Keywords: abdominal, bleeding, laparotomy, placenta, pregnancy
MeSH terms: Pregnancy, Abdominal / surgery, Case Reports, Adult, Embryo Implantation, Female, Humans, Laparotomy, Placenta / surgery, Pregnancy, Sutures

Introduction:
Abdominal pregnancy, a rare diagnosis, belongs to the ectopic pregnancy group, the leading cause of pregnancy related exitus. The positive diagnosis is very difficult to establish most often in an acute setting, leading to a staggering percent of feto-maternal morbidity and mortality.
Case report:
We present the case of 26-weeks-old abdominal pregnancy with partial feto-placental detachment in a patient, after hysteroscopy and in vitro fertilization, which until the acute symptoms that led to emergency laparotomy went unrecognized. The patient recovered completely and satisfactorily after surgery and, due to the high risk of uterine rupture with regard to a second pregnancy, opted for a surrogate mother.
Conclusion:
Abdominal pregnancy can be regarded as a difficult to establish diagnosis, with a greater chance in case of increased awareness. It is compulsory to be well informed in order not to be surprised by the diagnosis and to apply the correct treatment immediately as the morbidity and mortality rate is elevated.
Electrical impedance tomography to aid in the identification of hypoxemia etiology: Massive atelectasis or pneumothorax? A case report
Authors: Runshi Zhou, Chaokai He, Yi Chi, Siyi Yuan, Bo Tang, Zunzhu Li, Qi Li, Huaiwu He, Yun Long
Journal: Front Med (Lausanne) (2022)
Keywords: eit, case report, electrical impedance tomography, lung perfusion and ventilation, massive atelectasis or pneumothorax
MeSH terms: Case Reports

Background:
Bedside ultrasound is often used to determine the etiology of hypoxaemia, but not always with definitive results. This case reports the application of electrical impedance tomography (EIT) and saline injection to determine the etiology of hypoxaemia in a complex case that could not be identified by bedside ultrasound. The determination of the etiology of hypoxaemia by EIT and saline injection, regional ventilation and perfusion information can be used as a new clinical diagnostic method.
Case presentation:
A post-cardiac surgery patient under prolonged mechanical ventilation for lung emphysema developed sudden hypoxemia in the intensive care unit (ICU). A line pattern and lung sliding sign abolishment were found in the left lung, but there was no evidence of a lung point sign on bedside ultrasound. Hence, the initial diagnosis was considered to be a massive pneumothorax. To further define the etiology, EIT and saline bolus were used to assess regional ventilation and perfusion. A massive ventilation defect was found in the left lung, in which regional perfusion was maintained, resulting in an intrapulmonary shunt in the left lung. Finally, the conjecture of a pneumothorax was ruled out considering the massive atelectasis. After the diagnosis was clarified, hypoxaemia was corrected by restorative ventilation of the left lung after changing the patient's posture and enhancing sputum drainage with chest physiotherapy.
Conclusions:
This was the clinical case involving EIT and saline bolus to establish the differential diagnosis and guide clinical decisions for patients with acute hypoxemia. This study highlighted that combination regional ventilation, EIT perfusion, and saline bolus provided helpful information for determining the etiology of hypoxemia. The results of this study contribute to the development of emergency patient management.
Scurvy in an autistic child: early disease on MRI and bone scintigraphy can mimic an infiltrative process
Authors: N Khan, J M Furlong-Dillard, R F Buchman
Journal: BJR Case Rep (2015)
MeSH terms: Case Reports

Scurvy is uncommon in the industrialized world and is rarely reported in the paediatric population. Children with developmental and neuropsychiatric disorders and poor oral intake are at increased risk. The classic appearance of scurvy on radiographs is well documented. However, in early disease, radiographs may be normal. Bone scintigraphy can detect early disease, but involves radiation and findings are usually non-specific. MRI can detect very early disease in patients with scurvy prior to radiological findings and does not involve radiation. We present a case of unsuspected scurvy in an autistic child who had abnormality confined to the metaphysis seen on both MRI and bone scintigraphy. Early diagnosis and treatment in our patient prevented more serious complications such as fractures and subperiosteal haemorrhages.
8p23.1 duplication syndrome: narrowing of critical interval to 1.80 Mbp
Authors: Axel Weber, Angelika Köhler, Andreas Hahn, Ulrich Müller
Journal: Mol Cytogenet (2014)
Keywords: 8p231, 8p231 duplication syndrome, developmental delay, intellectual disability, snp array, sox7, tnks1
MeSH terms: Case Reports

Background:
A 3.68 Mbp duplication of 8p23.1 defines the 8p23.1 duplication syndrome. The main features of this syndrome are developmental delay and/or learning problems.
Results:
Here we present a patient with a 1.80 Mbp duplication in 8p23.1 and characteristic signs and symptoms of the syndrome, including delay of motor and speech development and intellectual disability.
Discussion:
The case indicates that genes within this interval, in particular dosage sensitive genes SOX7 and TNKS1, and possibly MIR124-1 and MIR598 as well suffice to cause the pathognomonic features of the 8p23.1 duplication syndrome.
Extrusion of the Distal Catheter From the Umbilicus: A Case Report of a Rare Complication After Ventriculoperitoneal Shunt and Its Management
Authors: Yi Xia, Fang He, Zhen Ren, Chao Wang
Journal: Front Pediatr (2020)
Keywords: complications, extrusion, hydrocephalus, umbilicus, ventriculoperitoneal shunt
MeSH terms: Case Reports

Spontaneous extrusion of the distal catheter from the umbilicus following a ventriculoperitoneal shunt (VPS) for the treatment of hydrocephalus is an extremely rare complication. Here, we describe an 8-years-old boy who underwent a VPS for communicating hydrocephalus and thereafter the distal part of the catheter was extruded through the umbilicus. The extrusive part of the peritoneal catheter was successfully cut off with a laparoscope, keeping the remaining catheter in place and functional. The subsequent recovery process was uneventful. To the best of our knowledge, there have been no reports of using laparoscopy to cut the protruding part and replace the shunt end. By keeping the function of the original shunt pipe, this case report offers an innovative and informative approach to treating this complication.
Delirium followed by neuroleptic malignant syndrome in rehabilitation setting. Is it anger reaction before discharge?
Authors: Rafat M Al Owesie, Asirvatham Alwin Robert
Journal: Pan Afr Med J (2013)
Keywords: neuroleptic malignant syndrome, saudi arabia, antipsychotics
MeSH terms: Antipsychotic Agents / adverse effects, Delirium / diagnosis, Neuroleptic Malignant Syndrome / diagnosis, Case Reports, Adult, Antipsychotic Agents / therapeutic use, Delirium / drug therapy, Diagnostic Errors, Humans, Male, Neuroleptic Malignant Syndrome / etiology, Psychomotor Agitation / drug therapy, Antipsychotic Agents

Delirium and neuroleptic malignant syndrome (NMS) are two uncommon syndromes that are often unrecognized or misdiagnosed by the primary physicians as functional psychiatric disorders. The infrequency and the heterogeneity of clinical manifestation, progression and outcome with which those diagnoses are encountered (particularly in chronic rehabilitation settings) make them formidable diagnostic challenge. In this report, we present a case in which there was a misdiagnosis of delirium and NMS as functional psychiatric disorders. This report demonstrates the fact that early recognition and intervention in such cases are essential to prevent the grave outcome and potential fatality. The authors believe that there is a key role for the consulting psychiatrist in this area in providing diagnostic clarity and advice regarding management and ongoing staff education.
Intestinal Pseudo-Obstruction as the Initial Clinical Presentation in Systemic Lupus Erythematosus: A Rare and Severe Disorder
Authors: Akwe Nyabera, Mohanad Elfishawi, Francisco Cuevas, Fahad Riaz, Adriana Abrudescu
Journal: Case Rep Gastrointest Med (2020)
MeSH terms: Case Reports

Intestinal pseudo-obstruction (IPO) is a rarely recognized complication of systemic lupus erythematosus (SLE). We present a 36-year-old African American female, with only known past medical history of anemia, admitted for frequent vomiting, abdominal distension, abdominal pain, diarrhea, and fever that had been ongoing for 5 days. Laboratory results revealed leukopenia and thrombocytopenia. Imaging revealed dilated small bowel loops, abdominal ascites, as well as mild bilateral hydroureteronephrosis without obstructing calculus. Serologic testing confirmed a diagnosis of SLE. The patient was placed on immunosuppressive therapy and responded well. IPO has previously been described as a rare finding in patients with SLE, with bilateral hydroureteronephrosis and lupus interstitial cystitis having been noted as common concomitant factors. One must have a high level of suspicion to recognize it as being one of the initial clinical presentations. Early recognition and appropriate management preclude unnecessary invasive procedures that do not take into account the pathophysiology of the condition and allow for appropriate management and return of peristaltic function.
Modified Two-Stage Exchange for Periprosthetic Joint Infection in UKA
Authors: Andrew G Yun, Marilena Qutami, Kory B Dylan Pasko
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Periprosthetic joint infection (PJI) is a rare complication following unicompartmental knee arthroplasty (UKA), and current management guidelines are still evolving. This report presents a novel surgical technique of resection arthroplasty with an articulated hemispacer as part of a 2-stage exchange protocol. A 66-year-old man developed a culture-negative PJI four months after a medial UKA. Rather than conventional full resection arthroplasty, the patient underwent partial resection with preservation of the lateral and patellofemoral compartments to maintain vascularized bone stock. An articulating hemispacer fashioned from the old implants after sterilization was reimplanted medially to preserve function during the course of antibiotic treatment. After successful eradication of infection, the patient underwent an uncomplicated conversion total knee replacement facilitated by prior preservation of bone stock. No stems or augments were needed. Therefore, a partial resection arthroplasty with an articulating hemispacer used in a 2-stage exchange protocol may be a reasonable option to eradicate infection and maintain function. In future cases of infected UKA, this technique warrants further consideration and investigation.
Severe Spontaneous Pneumomediastinum in a Girl with Cystic Fibrosis
Authors: Csaba Zsiborás, Mária Adonyi, József Stankovics, András Farkas, Peter Vajda, Barnabás Rózsai
Journal: European J Pediatr Surg Rep (2021)
Keywords: cystic fibrosis, mediastinal drainage, spontaneous pneumomediastinum
MeSH terms: Case Reports

We report on an 11-year-old girl with cystic fibrosis who presented with thoracic pain and an extensive subcutaneous emphysema and subsequently developed progressive respiratory distress. The chest computed tomography revealed a huge pneumomediastinum. Due to the development of severe respiratory failure, urgent needle thoracocentesis was necessary that resulted in only temporary improvement. Therefore, under general anesthesia two mediastinal drains were introduced. Using active suction, the size of the pneumomediastinum decreased gradually and the drains were removed after 3 weeks. Here, we describe an extremely rare situation, when acute surgical intervention was necessary in a child with spontaneous pneumomediastinum.
Pyogenic sacroiliitis in children: two case reports
Authors: L Ghedira Besbes, S Haddad, A Abid, Ch Ben Meriem, M N Gueddiche
Journal: Case Rep Med (2012)

Pyogenic sacroiliitis is rare and accounts for approximately 1-2% of osteoarticular infections in children. Considerable delay between presentation and diagnosis is recognized. Two cases of pyogenic sacroiliitis are described. The first case is a 28-month-old girl presented with acute onset of fever, pain in the left hip, and limpness. Computed tomography (CT), bone scans, and magnetic resonance imaging (MRI) of the pelvis showed characteristic findings of infectious sacroiliitis, and blood cultures were negatives. The second case is a 13-year-old girl presented with acute onset of fever, pain in the right hip, and buttock, with inability to walk. The diagnosis of pyogenic sacroiliitis was confirmed by bone scans, and CT of the pelvis and blood cultures have identified Proteus mirabilis. The two children recovered fully after 6 weeks of antimicrobial therapy. Pyogenic sacroiliitis is an uncommon disease in children. The key to successful management is early diagnosis in which CT, bone scans, and MRI findings play a crucial role. If the diagnosis is established promptly, most patients can be managed successfully with antimicrobial therapy.
Rare Gingival Metastasis by Hepatocellular Carcinoma
Authors: Li-Jun Xue, Xiao-Bei Mao, Jian Geng, Ya-Nan Chen, Qian Wang, Xiao-Yuan Chu
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Hepatocellular carcinoma (HCC) uncommonly metastasizes to the gingiva, which always means a poor outcome. We reported a rare HCC case with multiple metastases to gingiva, lungs, and brain. A 60-year-old man was initially diagnosed as HCC with metastases to double lungs. He was subjected to a transarterial chemoembolization (TACE) (5-fluorouracil, 750 mg) and two cycles of intravenous chemotherapy (gemcitabine 1.8 g at days 1 and 8, oxaliplatin 200 mg at day 2, every 4 weeks). However, the volume of liver tumor still increased. A bean-size gingival nodule growing with occasional bleeding was also found. TACE (5-fluorouracil 750 mg, perarubicin 40 mg, cisplatin 20 mg) was performed again and an oral sorafenib therapy (400 mg, twice per day) was adopted. The disease maintained relatively stable for about 6 months until a second obvious progress. The gingival nodule was then palliatively excised and identified as a poorly differentiated metastatic HCC by histopathological examination. Best supportive treatments were made since the performance score was too bad. Finally, cerebral metastases occurred and the patient died of systemic failure. Upon review of previous reports, we discussed risk factors, clinical and pathological characteristics, treatments, and prognosis of gingival metastasis by HCC.
A Case of Gastric Metastatic Melanoma 15 Years after the Initial Diagnosis of Cutaneous Melanoma
Authors: Sohail Farshad, Scott Keeney, Alexandra Halalau, Gehad Ghaith
Journal: Case Rep Gastrointest Med (2018)
MeSH terms: Case Reports

Melanoma is the most common cancer to metastasize to the gastrointestinal tract; however, metastasis to the stomach is a rare occurrence. We present the case of a patient with a history of melanoma of the chest wall 15 years prior to presentation who initially presented to the hospital with sepsis but was later found to have metastatic melanoma in the gastric cardia. This case illustrates the rare occurrence of metastatic melanoma to the stomach which occurred 15 years after the initial skin diagnosis of melanoma was made, its endoscopic appearance, and how the nonspecific symptoms frequently lead to a delayed diagnosis or one that is not made at all until after autopsy. For these reasons, endoscopy should be promptly performed if there is a suspicion of gastrointestinal metastatic melanoma.
Iatrogenic Acute Ascending Aortic Dissection with Intramural Hematoma during Coronary Artery Stenting: A Case Report
Authors: Mohamad El-Haress, Hicham Daadaa, Shima Shahjouei, Firas El-Bitar, Hisham Bahmad
Journal: Front Surg (2017)
Keywords: acute aortic dissection, case report, coronary artery bypass graft, intramural hematoma, percutaneous coronary intervention
MeSH terms: Case Reports

Background:
Iatrogenic acute ascending aortic dissection during percutaneous coronary intervention (PCI) is an exceptionally rare and life-threatening sequel that requires early and accurate diagnosis along with rapid management. No guidelines have yet been established to direct decisions on the different treatment options that can be employed in the setting of acute aortic dissections caused by PCI. However, similar cases have been treated either by intracoronary stenting and conservative management as in localized aortocoronary dissections or by surgical intervention in cases of extensive aortic dissections.
Case summary:
Hereby, we present a rare case of a female patient who developed "full-blown" acute ascending aortic dissection (Stanford type A-DeBakey type II dissection) with intramural hematoma during an elective percutaneous transluminal coronary angioplasty (PTCA) of the right coronary artery (RCA) and left circumflex artery (LCA). Accordingly, emergent surgical repair of the dissected aorta was performed including grafting of supracoronary ascending aortic tube, along with coronary artery bypass graft placement and septal myomectomy for severely hypertrophied cardiac septum. The patient recovered successfully without any documented postoperative complications.
Conclusion:
It is pivotal to avoid aggressive use of instrumentation during PTCA in order to prevent the potential development of catheter-induced aortic dissection.
Inflammatory myofibroblastic tumor of the lacrimal gland: case report of an exceptional location
Authors: Adil Boudhas, Mohamed Allaoui, Fouad El Asri, Issam Rharrassi, Mohamed Reda El Ochi, Mohamed Tbouda, Hafsa Chahdi, Abderrahmane Al Bouzidi, Mohamed Oukabli
Journal: BMC Clin Pathol (2017)
Keywords: alk, inflammatory myofibroblastic tumour, lacrimal gland, orbit
MeSH terms: Case Reports

Background:
Inflammatory myofibroblastic tumour (IMT) is a mesenchymal neoplasm of intermediate biological potential that may affect a wide range of anatomic sites but has a particular predilection for the lung and intra-abdominal soft tissues.
Case presentation:
We report here an exceptional case of inflammatory myofibroblastic tumor arising in the lacrimal gland and presenting as an orbital mass in a 24-year-old male.
Conclusion:
This report aims to discuss the importance of histopathological and immunohistochemical findings in arriving at the diagnosis, which helps dictate the management, treatment and prognosis of the patient.
Three Cases of Severe Placental Abruption as a First Symptom of Preeclampsia
Authors: Anastasia Mikuscheva, Finn Strassding, Elliot MacKenzie
Journal: Case Rep Obstet Gynecol (2021)
MeSH terms: Case Reports

Placental abruption is often referred to in the literature as a complication of preeclampsia. We report 3 recent cases where the first symptom of preeclampsia was placental abruption. All women were previously healthy and in their first ongoing pregnancy. All had been seen by obstetricians for regular pregnancy checkups. None of the patients had a preexisting diagnosis of preeclampsia. Only one of the patients had risk factors for preeclampsia and occasional hypertension. In all cases, laboratory signs of preeclampsia were abnormal intra- or immediately postpartum. One fetus died in utero, and the other two pregnancies fortunately showed a favourable outcome.