OpenMed/multicare-articles huggingface dataset:
Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality
Authors: Kana Unuma, Dan Tomomasa, Kosuke Noma, Kouhei Yamamoto, Taka-Aki Matsuyama, Yohsuke Makino, Atsushi Hijikata, Shuheng Wen, Tsutomu Ogata, Nobuhiko Okamoto, Satoshi Okada, Kenichi Ohashi, Koichi Uemura, Hirokazu Kanegane
Journal: Front Immunol (2023)
Keywords: bcp-all, sars-cov-2, autopsy, noonan syndrome (ns), sudden child death
MeSH terms: COVID-19, Noonan Syndrome / genetics, Case Reports, Research Support, Non-U.S. Gov't, Autopsy, Child Mortality, Cytokine Release Syndrome, Humans, Phenotype, Transcription Factors / genetics, LZTR1 protein, human, Transcription Factors

Herein, we report a child with COVID-19 and seemingly no underlying disease, who died suddenly. The autopsy revealed severe anemia and thrombocytopenia, splenomegaly, hypercytokinemia, and a rare ectopic congenital coronary origin. Immunohistochemical analysis demonstrated that the patient had acute lymphoblastic leukemia of the B-cell precursor phenotype (BCP-ALL). The complex cardiac and hematological abnormalities suggested the presence of an underlying disease; therefore, we performed whole-exome sequencing (WES). WES revealed a leucine-zipper-like transcription regulator 1 (LZTR1) variant, indicating Noonan syndrome (NS). Therefore, we concluded that the patient had underlying NS along with coronary artery malformation and that COVID-19 infection may have triggered the sudden cardiac death due to increased cardiac load caused by high fever and dehydration. In addition, multiple organ failure due to hypercytokinemia probably contributed to the patient's death. This case would be of interest to pathologists and pediatricians because of the limited number of NS patients with LZTR1 variants; the complex combination of an LZTR1 variant, BCP-ALL, and COVID-19; and a rare pattern of the anomalous origin of the coronary artery. Thus, we highlight the significance of molecular autopsy and the application of WES with conventional diagnostic methods.
Case Report: A rare case of primary hepatic Castleman's disease mimicking a liver tumor
Authors: Hong Chen, Xiaoxi Pang, Jie Li, Baixuan Xu, Yachao Liu
Journal: Front Oncol (2022)
Keywords: liver, mri, pathology, pet/ct, unicentric castleman’s disease
MeSH terms: Case Reports

Castleman's disease (CD) is a primary lymphoproliferative disorder of the lymph nodes with rare extra-nodal primary affection. Solid organ involvement is rare, and isolated liver involvement is extremely rare. Here we presented a case of a 59-year-old woman with a hepatic lesion accidentally found by ultrasound. The MRI result indicated primary liver malignancy or liver metastases. 18F-FDG PET/CT could not exclude hepatic malignant tumor due to its high metabolism. Finally, the hepatic CD was confirmed by postoperative pathology.
Sub-galeal abscess: A rare sequel of an infected scalp sebaceous cyst
Authors: Mamoun Nabri, Mohammed Alharbi, Amnah Al-Sayyid, Kawthar Alabdrabalrasol, Khairi Hassan, Hussam Al-Jehani
Journal: Int J Surg Case Rep (2020)
Keywords: abscess, cyst, dressing, sebaceous, subgaleal, vacuum
MeSH terms: Case Reports

Introduction:
Subgaleal abscess is a rare condition in which suppuration under the galea aponeurotica (epicranial aponeurosis) occurs. Diagnosis of subgaleal abscess is guided by high index of suspicion, imaging of the head by computed topography will confirm the diagnosis and detect osteomyelitis or intracranial extension.
Presentation of case:
We describe a case of extensive subgaleal abscess that presented as an infected scalp sebaceous cyst, in male diabetic patient, its management and the role of vaccum assisted closure (V.A.C.) dressing which was never described in such atypical presentation.
Discussion:
The subgaleal space is the between the galea aponeurotica and periosteum of the cranial bones, subgaleal abscess may result from hematogenous infection or contiguous spread, and the diagnosis may not be initially obvious4 The predominant organism isolated from post-traumatic and post-surgical scalp infections is Staphylococcus aureus (Haines and Chou, 1985). Diagnosis and management will be guided by head CT scan, management of subgaleal abscess should focus on effective intravenous antibiotic therapy, immediate surgical drainage of abscess and debridement of necrotic tissue.
Conclusion:
Subgaleal abscess is a rare complication, imaging can prevent serious complications. Negative pressure wound therapy is an invaluable tool for closure of the wounds.
Suspected intestinal tuberculosis might be Crohn's disease
Authors: Semiu Eniola Folaranmi, Gautam Mehta, Debasis Datta, Greg Holdstock
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

In this case report we provide evidence that supports a link between mycobacteria and Crohn's disease. The patient in question, KG, presented on three separate occasions over a ten years period with features suggestive of intestinal tuberculosis. He was treated successfully on each occasion with antimycobacterial drugs. When he presented a fourth time with the same symptoms, he was diagnosed with Crohn's disease based on findings from endoscopy, histology and CT. Subsequently he was treated with a course of steroids and made a full recovery. This case adds weight to the theory that mycobateria has an aetiological role in Crohn's disease.
Growing teratoma syndrome and peritoneal gliomatosis
Authors: H Mrabti, I El Ghissassi, Y Sbitti, M Amrani, H Hachi, H Errihani
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

The growing teratoma syndrome (GTS) is defined as a detection of an enlarged mass during or after chemotherapy treatment for germ cell tumor. We report a case of an 18-year-old girl treated for growing teratoma syndrome after chemotherapy for malignant germ cell tumor of the ovary associated with peritoneal gliomatosis. Chemotherapy induced normalisation of alpha-fetoprotein rate whereas there was an enlargement of the mass. Subsequent complete resection was performed, and the patient remained in good control for 60 months. This clinical picture suggested the diagnosis of "GTS". This syndrome can lead to confusion with progression or relapse of a germ cell tumour because of increase in tumour volume during chemotherapy, so it is important to recognize it.
A Case of Laryngeal Cryptococcosis that Responded to Itraconazole
Authors: Sorane Maezumi, Ray Motohashi, Yusuke Shoji, Kiyoaki Tsukahara
Journal: Case Rep Otolaryngol (2023)
MeSH terms: Case Reports

Laryngeal cryptococcosis is a rare condition. While there is no reliable evidence regarding the treatment of laryngeal cryptococcosis, oral fluconazole was successful in most previous cases. We experienced a case where we could not continue fluconazole because of adverse drug effects. An 88-year-old female was referred to our department with a 5-month history of sore throat and cough. She had used oral steroids and a corticosteroid inhaler for poorly controlled asthma. Flexible laryngoscopy showed leukoplakia of the vocal cords and subglottic mucosa, and biopsy revealed cryptococcal infection. We started the treatment with fluconazole but changed to itraconazole because of adverse events. Since laryngoscopy performed 6 months later was unremarkable and drug interactions had occurred, we stopped the itraconazole use at 6 months. Our experience suggests that itraconazole is also useful for treating laryngeal cryptococcosis.
Pulmonary tuberculosis in a young pregnant female: challenges in diagnosis and management
Authors: Manogna Maddineni, Mukta Panda
Journal: Infect Dis Obstet Gynecol (2008)
MeSH terms: Antitubercular Agents / therapeutic use, Mycobacterium tuberculosis / isolation & purification, Pregnancy Complications, Infectious / diagnosis, Tuberculosis, Pulmonary / diagnosis, Case Reports, Adult, Bronchoalveolar Lavage Fluid / microbiology, Diagnosis, Differential, Female, Humans, Pregnancy, Pregnancy Complications, Infectious / drug therapy, Radiography, Thoracic / methods, Treatment Outcome, Tuberculosis, Pulmonary / drug therapy, Antitubercular Agents

Background:
With the world becoming a global village, tuberculosis is no longer limited to endemic areas. Our case emphasizes the impact of immigration on infectious disease epidemiology and challenges associated with diagnosis and treatment in pregnancy.
Case:
A 21-year-old Hispanic female presented in preterm labor and was found to be hypoxic. Chest X-ray revealed a paratracheal mass which a CT scan confirmed. PPD test was positive. Bronchoalveolar lavage did not reveal acid-fast bacilli and biopsy revealed caseating granulomas. Diagnosis and treatment were challenging due to constraints in radiological investigations, lack of initial evidence of acid-fast bacilli, and toxic profile of medications. Due to her high risk, she was started on antituberculosis regimen. The diagnosis was confirmed on Day 26 when Mycobacterium tuberculosis was isolated by DNA probe.
Conclusion:
A high index of suspicion is required to recognize the changing face and disease spectrum of tuberculosis and initiate treatment for better outcomes.
Anterior Shoulder Dislocation during Breaststroke Swimming Technique: A Case Report and Review of the Literature
Authors: Angelo V Vasiliadis, Christos Kalitsis, George Biniaris, Antonios Saridis
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

A 36-year-old woman presented with anterior shoulder dislocation as a result of breaststroke swimming training. She complained of pain and restriction of movement. A radiograph revealed the shoulder was dislocated, and the patient was treated successfully with closed reduction. The mechanism of injury seemed to be a relation between the initial pull phase of breaststroke technique and the weakest position of the shoulder in extension and external rotation. In our experience, if a patient has a history including a shoulder dislocation, this needs to be considered carefully before incorporating aquatic therapy into the rehabilitation program. Attention must also be given to the crucial timing of initiating swimming training.
Complicated Postoperative Course after Pulmonary Artery Sling Repair and Slide Tracheoplasty
Authors: Angelika Weber, Birgit Donner, Marie-Hélène Perez, Stefano Di Bernardo, Daniel Trachsel, Kishore Sandu, Nicole Sekarski
Journal: Front Pediatr (2017)
Keywords: pediatric cardiology, pediatric intensive care, pulmonary artery sling, pulmonary artery thrombosis, slide tracheoplasty
MeSH terms: Case Reports

Pulmonary artery sling (PAS) is a rare congenital condition in which the left pulmonary artery (LPA) arises from the right pulmonary artery, and then passes between the trachea and the esophagus to reach the left lung, thereby forming a sling around the airway. It is often associated with intrinsic tracheal stenosis due to complete cartilaginous rings. Therapeutic management nowadays consists of one-stage reimplantation of the LPA and tracheoplasty with cardiopulmonary bypass support. Here, we present a 7-week-old boy with PAS and long-segment tracheal stenosis (LSTS) who underwent surgical intervention consisting of reimplantation of the LPA and slide tracheoplasty. Multiple respiratory and cardiovascular complications marked the postoperative course. They consisted of recurrent failed attempts in weaning off mechanical ventilation due to bronchomalacia, left vocal cord paralysis, development of granulation tissue at the anastomosis and restenosis of the trachea, and the main stem bronchi requiring balloon dilatation. The patient also developed bilateral pulmonary artery thrombosis and stenosis of the LPA. After a prolonged hospitalization, the patient is doing well without any respiratory symptoms and has a good result on follow-up bronchoscopy 1 year after the initial surgery. The stenosis of the LPA responded well to percutaneous balloon dilatation 12 months after the primary surgery. The case illustrates that even though surgical techniques are improving and are in general associated with a low morbidity and mortality, management of PAS and tracheal stenosis can still be challenging. However, good long-term outcome can be achieved if the initial postoperative phase is overcome.
Childhood habit cough treated with consultation by telephone: a case report
Authors: Ran D Anbar
Journal: Cough (2009)

Background:
Childhood habit cough has been treated successfully by making suggestions that it can be stopped, desensitization techniques, use of distractors, provision of rewards, and self-hypnosis. All of these techniques have involved personal contact between a health care provider and a patient.
Case presentation:
A 5-year-old with cystic fibrosis was diagnosed with habit cough following evaluation by a pediatric pulmonologist and otolaryngologist. An expert in the treatment of habit cough provided instruction by telephone to the patient's mother regarding use of hypnotic techniques in this setting, which was associated with resolution of the cough within a week.
Conclusion:
As this report describes a single patient, it is possible that his improvement was unrelated to the given advice. Therefore, it remains to be seen whether therapy by telephone for habit cough is applicable widely.
Management of acute acquired comitant esotropia in children
Authors: Mihaela Sorina Dragomir, Mircea Merticariu, Corina Ioana Merticariu
Journal: Rom J Ophthalmol (2023)
Keywords: acute acquired comitant esotropia, diplopia, intracranial disease, lateral rectus resection, medial rectus recession, strabismus surgery
MeSH terms: Esotropia / diagnosis, Esotropia / surgery, Case Reports, Acute Disease, Child, Diplopia / diagnosis, Diplopia / etiology, Diplopia / surgery, Humans, Oculomotor Muscles / surgery, Ophthalmologic Surgical Procedures / methods, Retrospective Studies, Treatment Outcome, Vision, Binocular

Aim: This report aims to discuss and review the diagnosis and management of acute acquired comitant esotropia (AACE) in children and to add several cases to the limited literature available on this unusual condition in the pediatric population. Materials and methods: We present two cases of AACE with large-angle deviations that were investigated and followed-up according to current recommendations. Both cases required strabismus surgery for AACE, but different procedures were chosen, with good postoperative results. Results: Unilateral recession of the medial rectus and resection of the lateral rectus (R&R) were performed in one case and bilateral medial rectus (MR) recession in the other, with resolution of the diplopia and full recovery of binocular vision. Discussion: Although isolated AACE is usually benign, studies have reported the presence of intracranial disease in up to 10% of cases, making it a potential first sign of an underlying serious pathology. Therefore, AACE should be investigated as a medical emergency and neuroimaging should be performed in all patients with unclear onset of AACE, as well as in those with associated neurological symptoms, such as headache, cerebellar imbalance, weakness, or nystagmus. Conclusion: Acute acquired comitant esotropia (AACE) is an infrequent type of esotropia that usually appears in older children. It is characterized by esotropia and diplopia with acute onset. Neurological examinations and neuroimaging should be performed to exclude any potential intracranial disease. Treatment of AACE without underlying neurological disease is focused on managing the diplopia and resolving the esotropia. Strabismus surgery has good motor and sensory results and can successfully restore good binocular function. Abbreviations: AACE = Acute acquired comitant esotropia, LR = lateral rectus, MR = medial rectus, PD = prism diopters, R&R = recession and resection, BSV = binocular single vision, PAT = prism adaptation test.
A Rare Case of Bronchial Anthracofibrosis with Pleural Anthracosis Presented as Recurrent Pleural Effusion
Authors: Rajesh Kumar Yadav, Jitendra Kumar Saini, Prabhpreet Sethi, Rohit Sarin
Journal: Case Rep Pulmonol (2019)
MeSH terms: Case Reports

A fifty-eight-year-old, nonsmoker Indian male presented with recurrent left pleural effusion. He had history of dry cough, exertional breathlessness for the last two years. He denied any occupational exposure or second hand smoke exposure. His physical examination demonstrated decreased breath sounds on the left side of chest. Cardiac evaluation was unremarkable. Diagnostic pleural aspiration revealed straw coloured fluid, exudative, and nonmalignant in nature. CT-imaging of the chest demonstrated left pleural effusion, nodular parenchymal infiltrates in bilateral lungs, plate like atelectasis in the left lower lobe. Bronchoscopy showed diffuse airway pigmentation, right middle lobe opening, and left lower lobe bronchus pigmented and stenosed. Semi-rigid pleuro-videoscopy revealed diffuse black coloured deposits over visceral pleura and focally scattered deposits over parietal pleura. Spirometry showed mild airway obstruction with moderate impairment in diffusion capacity.
Fatal legionellosis after water birth, Texas, USA, 2014
Authors: Elyse Fritschel, Kay Sanyal, Heidi Threadgill, Diana Cervantes
Journal: Emerg Infect Dis (2015)
MeSH terms: Home Childbirth, Legionellosis / diagnosis, Case Reports, Fatal Outcome, Female, Humans, Infant, Newborn, Legionellosis / microbiology, Pregnancy, Texas, Water Microbiology

In 2014, a fatal infection with Legionella pneumophila serogroup 1 occurred in a neonate after a water birth. The death highlighted the need for infection control education, client awareness, and standardization of cleaning procedures in Texas midwife facilities.
Adrenal myelolipoma: from tumorigenesis to management
Authors: Wassim Alaoui Mhammedi, Hicham Ouslim, Abdelghani Ouraghi, Mohammed Irzi, Amine Elhoumaidi, Mehdi Chennoufi, Mohammed Mokhtari, Anouar Elmouden, Ali Barki
Journal: Pan Afr Med J (2019)
Keywords: adrenal myelolipomas, conservative management, incidentaloma, laparoscopic adrenalectomy
MeSH terms: Abdominal Pain / etiology, Adrenal Gland Neoplasms / diagnostic imaging, Myelolipoma / diagnostic imaging, Case Reports, Adrenal Gland Neoplasms / surgery, Chronic Disease, Female, Humans, Myelolipoma / surgery, Tomography, X-Ray Computed, Young Adult

Adrenal myelolipoma (MLS) is a rare, benign and non-functional neoplasm, composed of adipose tissue and myeloid. We report a rare case of adrenal myelolipoma of a 20-year-old female revealed with chronic abdominal pain. Computed tomography (CT) scan of the abdomen guided diagnosis and surgical resection was performed given symptomatic and bulky mass. Histological examination confirmed the diagnosis. At 18 months after the surgery, the patient had no evidence of recurrence. The diagnosis of MLS is radiological. Therapeutic abstention is the rule for a small, asymptomatic tumor. The surgical removal is indicated when it is bulky (exceeds 7cm), symptomatic or hormonal activity.
Percutaneous Endoscopic Management for Oriental Cholangiohepatitis: A Case Report and a Brief Review of the Literature
Authors: Khalil Aloreidi, Prince Sethi, Terry Yeager, Muslim Atiq
Journal: Case Rep Gastrointest Med (2017)
MeSH terms: Case Reports

Oriental cholangiohepatitis (OCH) is a disease characterized by intrabiliary pigment stone formation, resulting in recurrent bouts of cholangitis. OCH is found mostly in Southeast Asia but it is occasionally recognized in Western societies. OCH etiology is largely unknown. We report our experience with a patient who presented with acute cholecystitis. Following laparoscopic cholecystectomy, she developed acute cholangitis due to multiple biliary tree stones. She underwent ERCP to clear the stones from common bile duct. For the intrahepatic stones, she underwent novel hybrid percutaneous endoscopic technique. The procedure resulted in complete clearance of biliary tree stones and resolution of her symptoms. The aim of this case is to increase awareness of this disease when patients from endemic areas present with biliary stones.
Pulmonary alveolar microlithiasis: a case report with emphasis on imaging findings
Authors: Guilherme Abdalla, Edson Marchiori, Gláucia Zanetti, Antonio Mucillo, Mariana Leite Pereira, Nina Ventura, Pedro Martins, Carolina Pesce Lamas Constantino, Rodrigo Canellas, Viviane Brandão, Romulo Varella de Oliveira
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the presence of small calculi in the alveolar space. The authors report a case of a 21-year-old man with a 2-year history of shortness of breath on exertion and dry cough. Physical examination was altered only for crackles at auscultation. Pulmonary function revealed a mild restrictive ventilatory defect and the chest radiograph demonstrated paracardiac confluence of dense micronodular infiltrate. High-resolution CT scan revealed diffuse ground glass attenuation and septal thickening, more pronounced in lower pulmonary regions, with calcifications along the interlobar septa and subpleural regions. A transbronchial lung biopsy confirmed the diagnosis of PAM.
Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report
Authors: Thomas Caiffa, Antimo Tessitore, Loira Leoni, Elena Reffo, Daniela Chicco, Biancamaria D'Agata Mottolese, Elisa Rubinato, Giorgia Girotto, Stefania Lenarduzzi, Egidio Barbi, Marco Bobbo, Giovanni Di Salvo
Journal: Front Pediatr (2022)
Keywords: kcnh2 variant, lqts, lvnc, left ventricular non-compaction, long qt syndrome
MeSH terms: Case Reports

Background:
Left ventricular non-compaction (LVNC) is an abnormality of the myocardium, characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. Long QT syndrome (LQTS) is a cardiac ion channelopathy presenting with a prolonged QT interval on resting electrocardiogram and is associated with increased susceptibility to sudden death. The association between LVNC and LQTS is uncommon.
Case presentation:
We report an Italian family with a novel pathogenic KCNH2 variant who presented with clinical features of LVNC and LQTS. The proband came to our attention after two syncopal episodes without prodromal symptoms. His ECG showed QTc prolongation and deep T wave inversion in anterior leads, and the echocardiogram fulfilled LVNC criteria. After that, also his sister was found to have LQTS and LVNC, while his father only presented LQTS.
Conclusions:
Physicians should be aware of the possible association between LVNC and LQTS. Even if this association is rare, patients with LVNC should be investigated for LQTS to prevent possible severe or even life-threatening arrhythmic episodes.
Emergent Presentation of an Adult with Undiagnosed Coarctation of the Aorta
Authors: Shannon Armistead, David Mullins, Stephen Sherick, John Ashurst
Journal: Case Rep Emerg Med (2018)
MeSH terms: Case Reports

Coarctation of the aorta is typically thought to be a childhood disease. However, emergency physicians must keep a broad differential diagnosis when faced with a young patient with signs and symptoms of acute congestive heart failure. The authors present a case of newly diagnosed coarctation of the aorta in a 26-year-old male who was first misdiagnosed with pneumonia.
A Mislocated Intrauterine Device Migrating to the Urinary Bladder: An Uncommon Complication Leading to Stone Formation
Authors: Mohamed Ali Nouioui, Tarek Taktak, Seif Mokadem, Houssem Mediouni, Ramzi Khiari, Samir Ghozzi
Journal: Case Rep Urol (2020)
MeSH terms: Case Reports

Intrauterine devices are a popular form of reversible contraception among women. Its administration can lead to some uncommon but serious complications such as perforation leading to its migration into adjacent organs. Like any foreign body, the presence of an IUD in the bladder can result in stone formation due to its lithogenic potential. We report a case of an IUD migrating from its normal position in the uterine cavity into the urinary bladder causing chronic low urinary tract symptoms in a 43-year-old female patient. The device was securely removed without complications using grasping forceps under cystoscopy, and no parietal defect was detected. A mislocated IUD is a rare complication that should be considered in female patients presenting with chronic urinary symptoms.