OpenMed/multicare-articles huggingface dataset:
Endovascular Embolization of Spontaneous Iliopsoas Hematoma: First Experience with Squidperi
Authors: Pierluca Torcia, Silvia Squarza, Umberto G Rossi, Paolo Rigamonti, Lorenzo Carlo Pescatori, Giovanni Damiani, Maurizio Cariati
Journal: Case Rep Radiol (2018)
MeSH terms: Case Reports

A 79-year-old man, suffering from atrial fibrillation and on anticoagulation therapy, was admitted at the emergency department of our institution because of a worsening respiratory insufficiency. After a diagnostic work-up, he was found to suffer from pneumonia, and antibiotic therapy was settled. He was kept under observation for his pulmonary conditions but, within a week, he developed a spontaneous iliopsoas hematoma, due to a sudden dysregulation of anticoagulation therapy subsequent to new in-hospital treatments. An endovascular approach was attempted and the bleeding vessels were embolized with a new liquid agent, named Squidperi (Emboflu, Switzerland). Complete exclusion of the diseased vessels was obtained and no complications occurred after the procedure. We conclude that Squidperi can be considered as an option for treatment of spontaneous iliopsoas hematomas.
Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East
Authors: Fouad Alghamdi, Asmaa Al-Tawari, Hadil Alrohaif, Walaa Alshuaibi, Hicham Mansour, Annemieke Aartsma-Rus, André Mégarbané
Journal: Front Pediatr (2021)
Keywords: dmd, case report, diagnostic delay, genetic diagnosis, neuromuscular disorder
MeSH terms: Case Reports

The timely and accurate genetic diagnosis of Duchenne muscular dystrophy (DMD) enables prompt initiation of disease management and genetic counseling and optimal patient care. Despite the existence of best practice guidelines for the diagnosis of DMD, implementation of these recommendations in different parts of the world is challenging. Here, we present 4 unique case studies which illustrate the different diagnostic pathways of patients with DMD in Middle Eastern countries and highlight region-specific challenges to achieving timely and accurate genetic diagnosis of DMD. A lack of disease awareness and consequential failure to recognize the signs and symptoms of DMD significantly contributed to the delayed diagnoses of these patients. Additional challenges included limited available funding for genetic testing and a lack of local specialist and genetic testing centers, causing patients and their families to travel vast distances for appointments in some countries. Earlier and more accurate genetic diagnosis of DMD in this region would allow patients to benefit from effective disease management, leading to improvements in health-related quality of life.
Durvalumab-Induced Demyelinating Lesions in a Patient With Extensive-Stage Small-Cell Lung Cancer: A Case Report
Authors: Wenhui Liu, Bo Chen, Yiping Liu, Zhiying Luo, Bao Sun, Fang Ma
Journal: Front Pharmacol (2022)
Keywords: durvalumab, immune checkpoint inhibitors, immune-related adverse events, neurological demyelination lesions, small-cell lung cancer
MeSH terms: Case Reports

It is of great clinical value to investigate the immune-related adverse events (irAEs), especially demyelinating lesions, caused by immune checkpoint inhibitors (ICIs). The incidence of demyelinating lesions is less frequent in irAEs, but once it occurs, it will seriously affect the survival of patients. The present study reports a case of durvalumab-induced demyelinating lesions in a patient with extensive-stage small-cell lung cancer. Subsequently, the patient receives a high intravenous dose of methylprednisolone and his condition is improved after 21 days of treatment. Altogether, early diagnosis and treatment of ICIs-related neurological irAEs is of great significance to the outcome of the patient's condition.
Concurrent hospitalization of a married couple presenting with distinct symptoms but diagnosed with a life-threatening infectious disease
Authors: Eduardo Atsushi Osawa, Alexandre Toledo Maciel
Journal: Rev Soc Bras Med Trop (2022)
MeSH terms: Botulism / diagnosis, Botulism / etiology, Communicable Diseases, Case Reports, Aged, Botulinum Antitoxin, Female, Hospitalization, Humans, Male, Botulinum Antitoxin

We described the cases of a married couple hospitalized for distinct symptoms and developed a neuroparalytic syndrome with rapid progression. In Case 1, a 75-year-old woman was admitted for abdominal pain, diarrhea, and blurred vision. The patient developed acute respiratory failure, ptosis, and ophthalmoplegia. She died on day 15 because of an acute abdomen. In Case 2, her husband, a 71-year-old man, was admitted for diplopia. The patient developed abdominal distension and slurred speech. Later, he developed bilateral ptosis, ophthalmoparesis, and mydriasis. Botulism was suspected, and both patients received botulinum antitoxin. Our male patient survived but underwent prolonged rehabilitation.
Clinical and radiological evidence of the recurrence of reversible pegvisomant-related lipohypertrophy at the new site of injection in two women with acromegaly: a case series
Authors: Vincenzo Rochira, Lucia Zirilli, Chiara Diazzi, Stefania Romano, Cesare Carani
Journal: J Med Case Rep (2012)

Introduction:
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 information obtained from physical examination only.
Case presentation:
We studied two Caucasian women with acromegaly, aged 51 and 71 years, with pegvisomant-related lipohypertrophy. Our two patients were evaluated at baseline, when the site of pegvisomant injection was the periumbilical abdominal region, and then four months after switching the injection site from the abdomen to both thighs. Both physical examination and radiological studies (magnetic resonance imaging and dual energy X-ray absorptiometry) demonstrated that the abdominal lipohypertrophy progressively reverted in both patients after switching the site of injection to the thighs. However, lipohypertrophy reappeared at the new site of injection. The radiological outcome confirmed the reversibility of pegvisomant-related lipohypertrophy and strengthened the body of evidence on this issue.
Conclusion:
In clinical practice, physical examination of the injection site or sites leads to an early detection of lipohypertrophy during pegvisomant treatment. Radiological procedures may be of help to confirm subcutaneous fat changes and for a precise monitoring of fat redistribution. Patients should get appropriate information about lipohypertrophy before starting pegvisomant treatment since the rotation of the site of injection may prevent lipohypertrophy.
Case Report: Severe Hyponatremia in Infants With Urinary Tract Infection
Authors: Karmila Abu Bakar, Muhammad Y Jalaludin, Nur Zainal, Sze L Woon, Nurwahida Mohd Zikre, Nurshadia Samingan, Syaza Ab Rahman, Caroline S Y Eng
Journal: Front Pediatr (2021)
Keywords: congenital anomaly of kidney and urinary tract (cakut), hyperkalemia, hyponatremia, pseudohypoaldosteronism, urinary tract infection
MeSH terms: Case Reports

Introduction: Many reports on investigations and treatments in UTI, however little, have been mentioned with regard to electrolyte abnormalities. Secondary pseudohypoaldosteronism (PHA) in UTI, though less common, is a known association. Features include hyponatremia and concomitant hyperkalemia. Objectives: We aim to highlight these uncommon sequelae in UTI to avoid incorrect diagnosis and unnecessary investigations. Study Design: Clinical data of patients admitted and referred to a pediatric nephrologist at the University Malaya Medical Center between May 2019 and October 2020 were collated and elaborated. Results and Discussion: We report three infants with hyponatremia and hyperkalemia during UTI episodes. Two infants were known to have posterior urethral valve (PUV) before the onset of UTI and one infant had UTI, which led to investigations confirming the diagnosis of bladder vaginal fistula. The electrolyte derangements were temporary and resolved within 48 to 72 h of treatment with intravenous fluid and appropriate antibiotic therapy. Out of three, only one had a hormonal study, which confirms PHA. Reduced aldosterone activity could be due to absolute reduction in aldosterone titer or lack of aldosterone responsiveness at tubular (other tissues) level. In the latter, aldosterone titer is elevated. The infant in our cohort who had hormonal evaluation had the mentioned electrolyte abnormalities with a markedly elevated aldosterone titer. This demonstrated defective action of the hormone at the level of mineralocorticoid receptor. Although the remaining two infants had no confirmatory hormonal study, all of them recovered within 48 h of hospital admission, after receiving appropriate management for the primary problem, which was UTI. We observed a slower recovery of hyponatremia in relation to hyperkalemia, but none of these infants required salt replacement upon discharge. Conclusion: Infants with severe UTI and deranged electrolytes should be screened for structural abnormality and vice versa. Not all infants require hormonal screening, but those who required prolonged salt replacement or showed involvement of other systems warrant further evaluation.
Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan
Authors: Mutaz Amin, Cedric Vignal, Ahlam A A Hamed, Inaam N Mohammed, Maha A Elseed, Rayan Abubaker, Yousuf Bakhit, Arwa Babai, Eman Elbadi, Esraa Eltaraifee, Doua Mustafa, Ashraf Yahia, Melka Osman, Mahmoud Koko, Mohamed Mustafa, Mohamed Alsiddig, Sahwah Haroun, Azza Elshafea, Severine Drunat, Liena E O Elsayed, Ammar E Ahmed, Odile Boespflug-Tanguy, Imen Dorboz
Journal: Front Genet (2022)
Keywords: clp1, sudan, family, pontocerebellar hypoplasia, pontocerebellar hypoplasia 10
MeSH terms: Case Reports

Pontocerebellar hypoplasia type 10 (PCH10) is a very rare autosomal recessive neurodegenerative disease characterized by intellectual disability, microcephaly, severe developmental delay, pyramidal signs, mild cerebellar atrophy, and white matter changes in the brain, as shown by magnetic resonance imaging (MRI). The disease has been described in only twenty-one patients from ten Turkish families with a founder missense pathogenic variant in the CLP1 gene involved in tRNA processing and maturation. We analyzed three siblings from a consanguineous Sudanese family who presented with intellectual disability, dysmorphic features, developmental delay, regression of milestones, microcephaly, epilepsy, extrapyramidal signs, mild pontine, and cerebellar atrophy. We identified through whole-exome sequencing the same pathogenic variant (c.419G>A; p(Arg140His) reported before in all Turkish families. Our study extends the phenotypes of PCH10 and reports for the first time cases with PCH10 of non-Turkish origin.
Pulmonary Inflammatory Myofibroblastic Tumor in Children: A Case Report and Brief Review of Literature
Authors: Federica Camela, Marcella Gallucci, Emanuela di Palmo, Salvatore Cazzato, Mario Lima, Giampaolo Ricci, Andrea Pession
Journal: Front Pediatr (2018)
Keywords: anaplastic lymphoma kinase rearrangement, high-resolution computer tomography, histopathology assessment, inflammatory myofibroblastic tumor, inflammatory pseudotumor
MeSH terms: Case Reports

The inflammatory myofibroblastic tumor (IMT) is a rare lesion of unclear etiology and variable clinical course, consisting of a proliferation of fibroblasts and myofibroblasts, mixed with inflammatory cells. Synonyms of IMT are inflammatory pseudotumor and plasma cell granuloma reflecting the alleged inflammatory nature attributed to this lesion, even though this heterogeneity in the disease denomination is probably involved in a dispersion of the literature data. Among primary pulmonary neoplasms, it represents the most frequent endobronchial tumor of childhood and beyond the lung it has been described mainly in the bladder, mediastinum and mesentery. Despite having a tendency for local recurrence, the risk of distant metastasis is low. Clinical presentation depends on localization therefore lung peripheral lesions are often asymptomatic resulting in a delayed diagnosis. Radiological findings can suggest the diagnosis that must be confirmed by histopathology assessment. The tumor has been characterized by the application of immunohistochemical techniques, molecular biology and cytogenetics, which are very precious for the diagnosis. The therapeutic approach consists in the complete surgical excision of the lesion that normally ensures excellent survival. Due to the potential risk of recurrence, close clinical trial is indicated. To date only 24 cases of pulmonary IMT have been described, although the prevalence is probably higher. We present a case report of a 3-year-old girl with pulmonary IMT and a brief review of known literature cases in order to highlight the most common clinical presentations, the most useful diagnostic tools and therapeutic approach.
Omphalocele and biliary atresia: chance or causality. A case report
Authors: Julia Amim Rosa, Ana Maria Rossignolli Pinto, Juliana Zoboli Del Bigio, Larissa Barbosa Lima, Marcos Marques da Silva, Rafaela Braga Cabrera Mano, Mário Cícero Falcão
Journal: Einstein (Sao Paulo) (2022)
MeSH terms: Biliary Atresia / complications, Biliary Atresia / diagnosis, Biliary Atresia / surgery, Cholestasis / complications, Hernia, Umbilical / complications, Hernia, Umbilical / diagnostic imaging, Hernia, Umbilical / surgery, Case Reports, Bilirubin, Female, Humans, Infant, Infant, Newborn, Parenteral Nutrition, Pregnancy, Bilirubin

To relate omphalocele and biliary atresia and investigate possible embryological correlations that justify the simultaneous occurrence. A female preterm newborn diagnosed as omphalocele; cesarean delivery, weight 2,500g, 46 XX karyotype. Initially, the newborn remained fasting and on parenteral nutrition, and enteral diet was introduced later, with good acceptance. On the 12th day of life, the newborn presented direct hyperbilirubinemia, increased levels of liver enzymes and fecal acholia, with a presumptive diagnosis of biliary atresia. However, the ultrasound was inconclusive, due to anatomical changes resulting from omphalocele. A surgical approach was chosen on the 37th day of life aiming to confirm diagnosis of biliary atresia and to repair omphalocele. During the surgical procedure, structural alterations compatible with biliary atresia were observed, later confirmed by pathological examination; a hepatoportoenterostomy was performed and the omphalocele was corrected. She evolved well in the postoperative period, with a decrease in direct bilirubin and liver enzymes, as well as resolution of fecal acholia, and was discharged in good clinical condition. This is a bizarre and extremely rare association, but the prognosis may be good when an early diagnosis is made and surgery performed, besides support and clinical management to prevent complications in the perioperative period. Although the pathogenesis of the diseases has not been fully defined yet, there is, to date, no direct relation between them. The association between omphalocele and biliary atresia is extremely uncommon, with only two published cases.
Coexistence of ankylosing spondylitis and hereditary multiple exostoses:coincidence or association
Authors: Abdolrahman Rostamian, Hamed Mazoochy, Shafieh Movassaghi, Seyed Mohammad Javad Mortazavi, Elham Sadeghzadeh, Fatemeh Shahbazi, Hossein Ghanaati
Journal: Iran J Radiol (2014)
Keywords: exostoses, multiple hereditary, spondylitis, ankylosing
MeSH terms: Case Reports

Coexisting ankylosing spondylitis and hereditary multiple exostoses have rarely been reported (three patients) previously. A 27-year-old man with hereditary multiple exostoses is presented as a fourth report. At the age of 15 years, the patient had multiple exostoses around the knee, ankle and shoulder joints. He was diagnosed with ankylosing spondylitis 3 years ago. The patient's sister and his 3 brothers also have multiple exostoses without any family history of spondyloarthropathy or inflammatory arthritis. The aim of this report is to discuss an interesting coexistence of these two diseases. The increasing number of reported patients who have a coexistence of these two diseases might suggest that the association of these two diseases is stronger than a coincidence.
Meningitis due to Fusobacterium necrophorum in an adult
Authors: SreeNeelima Garimella, Aparna Inaparthy, Thomas Herchline
Journal: BMC Infect Dis (2004)
MeSH terms: Fusobacterium Infections / diagnosis, Fusobacterium necrophorum, Meningitis, Bacterial / diagnosis, Case Reports, Brain / pathology, Fatal Outcome, Fusobacterium Infections / drug therapy, Humans, Magnetic Resonance Imaging, Male, Meningitis, Bacterial / drug therapy, Middle Aged, Otitis Media / complications, Otitis Media / drug therapy, Otitis Media / microbiology

Background:
Fusobacterium necrophorum may cause a number of clinical syndromes, collectively known as necrobacillosis. Meningitis is a significant cause of mortality, rarely reported in the adult population.
Case presentation:
We report a fatal case of meningitis, caused by Fusobacterium necrophorum, secondary to otitis media in an alcoholic male. Diagnosis was delayed due to the typical slow growth of the organism. The clinical course was complicated by encephalitis and by hydrocephalus. The patient failed to respond to metronidazole and penicillin. The patient died on day 12 from increased intracranial pressure and brain stem infarction.
Conclusions:
This case emphasizes the need for a high index of clinical suspicion to make the diagnosis of Fusobacterium necrophorum meningitis. We recommend the use of appropriate anaerobic culture techniques and antimicrobial coverage for anaerobic organisms when the gram stain shows gram negative bacilli.
A Case of Tuberculosis-related Cerebral Venous Sinus Thrombosis and Pulmonary Thromboembolism Successfully Treated with Edoxaban
Authors: Koichi Nishino, Takashi Akimoto, Hideyuki Mitsuoka, Yutaka Terajima, Yuta Arai, Yoshihiro Masui, Tomoyasu Mimori, Kengo Koike, Kazuhisa Takahashi, Mitsuaki Sekiya
Journal: Respir Med Case Rep (2022)
Keywords: cerebral venous sinus thrombosis, direct oral anticoagulant, edoxaban, pulmonary thromboembolism, pulmonary tuberculosis, venous thrombosis
MeSH terms: Case Reports

A 22-year-old woman was admitted to the hospital with complaints of headache and vomiting. Radiological examinations revealed cerebral sinus venous thromboses, pulmonary thromboembolism, and cavities in the left upper lung. Pulmonary tuberculosis was diagnosed based on sputum and gastric aspirate culture. Heparin followed by warfarin was administered. Anti-tuberculosis agents including rifampicin were also initiated. Since the effect of warfarin did not reach the therapeutic level because of interaction with rifampicin, edoxaban was administered and thromboses were ameliorated. This report illustrates rare thrombotic complications in a TB-induced hypercoagulable state and the potential benefits and safety of edoxaban in combination with rifampicin.
Simultaneous Bilateral Spontaneous Pneumothorax in an Adult Patient With Pulmonary Langerhans Cell Histiocytosis: A Case Report
Authors: Vasileios Karamouzos, Christos Prokakis, Fotini Kosmopoulou, Evangelos Karanikolas, Christina Kalogeropoulou, Diamanto Aretha, Nikolaos Panagiotopoulos, Efstratios Koletsis, Dimitrios Velissaris
Journal: J Investig Med High Impact Case Rep (2018)
Keywords: langerhans cell, bilateral, histiocytosis, interstitial, lung diseases, pneumothorax, pulmonary

We report a case of a young female with known history of pulmonary Langerhans cell histiocytosis who was initially presented in the emergency department of a university hospital with respiratory distress. Clinical assessment and diagnostic workup revealed left hemithorax subcutaneous emphysema, bilateral pneumothorax, and atelectasis in both lower lung lobes. The patient was treated with bilateral staged thoracoscopic bullectomy and mechanical abrasion of the parietal pleura combined with chemical pleurodesis with talc. A new occurrence of right-sided pneumothorax was noticed 3 days after surgery, which was treated with chest tube insertion and chemical pleurodesis. The aforementioned surgical approach resulted in complete lung expansion and the patient's full recovery. A review of pulmonary Langerhans cell histiocytosis and treatment options in cases of pneumothorax due to lung histiocytosis is also presented in this report.
Retroperitoneal paraganglioma presenting as a chest pain: a case report
Authors: Parag Brahmbhatt, Pranav Patel, Atif Saleem, Rathi Narayan, Mark Young
Journal: Case Rep Oncol Med (2013)

Paragangliomas are very rare tumors derived from neuroendocrine cells of autonomic nervous system. Extra-adrenal paragangliomas account for only 10 to 15% of all paragangliomas and may present incidentally as a mass. Typical triad of fluctuating hypertension, headache, and sweating is not always present which makes the diagnosis difficult sometimes. Definitive diagnosis is usually made with histologic findings and surgery is the treatment of choice. We report a case of a 53-year-old male who presented with chest pain and vomiting.
HER2-Positive Metaplastic Spindle Cell Carcinoma Associated with Synchronous Bilateral Apocrine Carcinoma of the Breast
Authors: Katsumi Kito, Toshiharu Maeda, Keiko Ninomiya, Atsuro Sugita, Teiri Sagawa, Kinya Matsuoka, Kousei Kinoshita, Naoki Hyodo, Nagisa Morita, Keizo Furuya
Journal: Case Rep Pathol (2014)

Apocrine carcinoma, which is strictly defined as over 90% of tumor cells showing apocrine differentiation, is a rare variant of breast cancer. Here we report an uncommon case in which apocrine carcinomas developed concurrently in both breasts; in addition, a sarcomatoid spindle cell lesion was coincident in the right breast. Both apocrine carcinomas were immunohistochemically negative for estrogen receptor (ER) and progesterone receptor (PgR), but diffusely positive for androgen receptor (AR), GCDFP-15, and HER2. The presence of intraductal components in bilateral carcinomas and the absence of lymph node metastasis suggested that they were more likely to be individual primary lesions rather than metastatic disease. The spindle cell lesion showed a relatively well-circumscribed nodule contiguous with the apocrine carcinoma. HER2 oncoprotein overexpression was observed not only in the apocrine carcinoma, but also in the spindle cell lesion. Since the spindle cell component was intimately admixed with apocrine carcinoma and had focal cytokeratin expression, we diagnosed it as metaplastic spindle cell carcinoma, which was originated from the apocrine carcinoma. To our knowledge, this is the first case report of a patient with synchronous bilateral apocrine carcinomas coinciding with metaplastic carcinoma.