OpenMed/multicare-articles huggingface dataset:
Rare Association between Two Genetic Conditions: Turner Syndrome and Neurofibromatosis Type 1
Authors: R El Qadiry, K Danaoui, H Nassih, A Bourrahouat, I Ait Sab
Journal: Case Rep Endocrinol (2022)
MeSH terms: Case Reports

Turner's syndrome (TS) is a sex chromosome disorder due to loss of either all or part of the X chromosome, in some or all the cells of the body. Neurofibromatosis type 1 (NF-1) is a multisystemic genetic disorder that is only rarely observed in association with Turner syndrome. Only six cases of Turner syndrome associated with NF-1 have been reported in the literature. In this study, we report the first case with TS and NF-1 in a Moroccan child. Case Report. A 16-year-old female was born of a nonconsanguineous marriage. In her family history, her mother had multiple café-au-lait spots with Lisch nodules on ophthalmologic examination. She was diagnosed with TS (karyotype: 45, X) due to short stature and characteristic features. The diagnosis of NF-1 was made according to the presence of four diagnostic criteria of the National Institute of Health Consensus Development Conference. Conclusion. Coexistence of NF-1 with TS is rare. We consider that this may be the seventh case report of TS associated with NF-1.
Case Report: Right atrial organized thrombus three years after tricuspid annuloplasty
Authors: Mohannad Abbass, Silvia Mariani, Sami Musa, Nicoletta Erba, Franco Masini, Salvatore Lentini
Journal: F1000Res (2023)
Keywords: follow-up, intracardiac mass, right atrial thrombus, tricuspid valve repair
MeSH terms: Atrial Fibrillation, Tricuspid Valve Insufficiency / diagnosis, Tricuspid Valve Insufficiency / surgery, Case Reports, Adolescent, Anticoagulants, Aortic Valve, Female, Humans, Tricuspid Valve / diagnostic imaging, Tricuspid Valve / surgery, Anticoagulants

Background: Occurrence of right atrial masses, especially in patients with history of cardiac surgery, is rare. Differential diagnosis between malignant and non-malignant aetiologies might be cumbersome, and surgery is often required to prevent complications or disease evolution. Case: We report the case of a 16-year-old girl from a rural area of Sudan, who underwent surgery for a modified De Vega's tricuspid annuloplasty, and mitral and aortic valve replacement with mechanical prostheses. The patient was on regular follow-up but demonstrated a poor compliance to anticoagulation therapy with a time in therapeutic range between 52% and 20%. She remained asymptomatic, but a right atrial mass was diagnosed by transthoracic echocardiography during a follow-up visit 41 months after the first operation. Surgical removal of the mass revealed an organized thrombus arising from the point where the Prolene stitches for the tricuspid annuloplasty were previously passed. The patient recovered from surgery, was discharged home on post-operative day 10 and the first follow-up visit at 30 days after discharge confirmed a good clinical status and a normal transthoracic echocardiography (TTE). Conclusions: This case report describes the diagnostic and therapeutic work-out of a thrombus formation on the suture lines of a tricuspid annuloplasty. Moreover, it highlights the importance of a strict and long follow-up after valvular surgery and of the adherence to anticoagulation therapy, especially for patients living in rural areas of developing countries.
A Rare Case of Incarcerated Inguinal Hernia Containing Fat and a Penile Reservoir
Authors: Luiza Miziara Brochi, Raul Mederos, Mohammed Al Bashir
Journal: Cureus (2023)
Keywords: hernia repair, incarcerated inguinal hernia, penile implant complication, penile prothesis, reservoir displacement
MeSH terms: Case Reports

The inflatable penile prosthesis (IPP) is a three-piece device indicated to treat erectile dysfunction. Although it is considered a safe procedure, it can result in complications, such as reservoir herniation. Literature is scarce regarding reservoir incarcerated herniation as a complication of IPP and its management. Surgery is required to reduce symptomatic hernias and properly secure the reservoir to avoid recurrence. An untreated incarcerated hernia may lead to strangulation and necrosis of abdominal organs, as well as implant malfunction. We present a rare case of a left-sided incarcerated inguinal hernia containing fat and a penile reservoir of a previous penile prosthesis implant in a 79-year-old man, as well as the technique used to correct it.
The Retrochiasmal Optic Pathway: A Link in Jeopardy
Authors: Manuel Campos, Allan J Drapkin
Journal: Front Surg (2020)
Keywords: homonymous hemianopia, meningioma, optic radiations, retrochiasmal optic pathway, visual hallucinations
MeSH terms: Case Reports

The case of an intraventricular meningioma is presented and the visual complication incurred by its surgical resection is discussed. The importance of selecting the most optimal surgical approach and the basis for that selection are highlighted.
Hyperbaric oxygen therapy as rescue therapy for pediatric frosted branch angiitis with Purtscher-like retinopathy: A case report
Authors: Chi-Tai Lee, Tzu-Han Hsieh, Chan-Ching Chu, Yung-Ray Hsu, Jia-Horng Wang, Jia-Kang Wang, Zhanqi Zhao, Hou-Tai Chang
Journal: Front Med (Lausanne) (2023)
Keywords: purtscher-like retinopathy, atmosphere absolute, best-corrected visual acuity, frosted branch angiitis, hyperbaric oxygen therapy, optical coherence tomography, positive antinuclear antibody
MeSH terms: Case Reports

Introduction:
Frosted branch angiitis (FBA) is an uncommon uveitis characterized by fulminant retinal vasculitis. Purtscher-like retinopathy (PuR) is a rare retinal angiopathy associated with a non-traumatic etiology. Both FBA and PuR can cause profound visual impairments.
Case report:
We describe the case of a 10-year-old male who presented with sudden bilateral painless visual loss due to FBA with concurrent PuR, with notable viral prodrome 1 month prior to presentation. Systemic investigations revealed a recent herpes simplex virus 2 infection with a high titer of IgM, positive antinuclear antibody (ANA) (1:640), and abnormal liver function tests. After administration of systemic corticosteroids, anti-viral agents, and subsequent immunosuppressive medications, the FBA was gradually alleviated. However, fundoscopy and optical coherence tomography (OCT) revealed persistent PuR and macular ischemia. Hence, hyperbaric oxygen therapy was administered as a rescue strategy, which resulted in gradual bilateral visual acuity improvement.
Conclusion:
Hyperbaric oxygen therapy may be a beneficial rescue treatment for retinal ischemia secondary to FBA with PuR.
Multiple myeloma and paget disease with abnormal skull lesions and intracranial hypertension
Authors: T Caravita, A Siniscalchi, E Montinaro, R Bove, M Zaccagnini, D De Pascalis, A Morocutti, L Brusa, F Arciprete, Ml Cupini, A Perrotti, E Palma, S Fratoni, R De Simone, C Iani, P de Fabritiis
Journal: Mediterr J Hematol Infect Dis (2012)
MeSH terms: Case Reports

We report a 73 years old man with a diagnosis of Paget Disease (PD) and symptomatic Multiple Myeloma (MM). Coexistence of MM and PD has rarely been described. PD mimics many of the features of bone destructive process in MM, making differential diagnosis more complicated. In addition, the presence of serious muscolo-skeletal and metabolic complications in both diseases makes management of patients difficult, worsening the prognosis.The comparison of these two diseases has led to the characterization of a common molecular mechanism represented by the receptor activator of nuclear factor-kB ligand (RANKL)/Osteoprotegerin signaling pathway. The improved comprehension of these mechanisms led to the development of new pharmacologic agents (bisphosphonates, cytokines inhibitors) effective for the treatment of these bone diseases.
Laryngeal involvement causing dysphonia in a 29 year old nursing mother with lepromatous leprosy
Authors: Sombo Fwoloshi, Sharon Musonda Machona, Victor Mudenda, Owen Ngalamika
Journal: Pan Afr Med J (2015)
Keywords: leprosy, atypical features, deep cutaneous mycosis, dysphonia
MeSH terms: Dysphonia / etiology, Laryngeal Diseases / diagnosis, Leprosy, Lepromatous / diagnosis, Case Reports, Adult, Breast Feeding, Dysphonia / microbiology, Female, Humans, Laryngeal Diseases / microbiology, Leprosy, Lepromatous / complications

Leprosy is a granulomatous disease that mainly affects the skin and peripheral nerves. It is caused by infection with mycobacterium leprae or mycobacterium lepromatosus. In most instances, diagnosis of leprosy can easily be made based on the clinical signs and symptoms. However, when patients present with atypical features, clinical diagnosis can be a challenge. We report a case of a nursing mother with lepromatous leprosy who presented with dysphonia and skin lesions initially thought to be a deep cutaneous mycosis.
Compression of the Femoral Vessels by a Pseudotumor after Metal-on-Metal Total Hip Arthroplasty
Authors: Yasuaki Tamaki, Tomohiro Goto, Takahiko Tsutsui, Tomoya Takasago, Keizo Wada, Koichi Sairyo
Journal: Case Rep Orthop (2017)
MeSH terms: Case Reports

Here we present a case of pseudotumor following total hip arthroplasty (THA) that resulted in a circulatory disturbance caused by compression of the femoral vasculature. A 63-year-old man presented with pain, swelling, and redness of the left leg 5 years after primary metal-on-metal THA using the AML-Plus stem, Pinnacle® acetabular cup, and 36 mm diameter Ultamet™ metal head system (DePuy Orthopaedics, Warsaw, IN). Enhanced computed tomography and magnetic resonance imaging revealed a large cystic lesion extending from the left hip anteriorly to the intrapelvic region and compressing the left femoral vessels. Percutaneous puncture of the lesion yielded a dark red aspirate and the patient was diagnosed to have a pseudotumor causing compression of the femoral vessels. We performed revision surgery to replace the metal head and metal liner with a smaller ceramic head and polyethylene liner without removal of the stem. Corrosion of the head-neck junction was identified intraoperatively with no obvious wear on the bearing surfaces. The left leg swelling and redness improved immediately postoperatively. A large pseudotumor should be kept in mind as a cause of vascular compression with unilateral leg edema in a patient who has undergone metal-on-metal THA.
HOW TO PERFORM LAPAROSCOPIC DISTAL PANCREATECTOMY USING THE CLOCKWISE TECHNIQUE
Authors: Adriano Carneiro da Costa, Duncan Spalding, Geraldo de Almeida Cunha-Filho, Matheus Belem Santana, Madhava Pai, Long R Jiao, Nagy Habib
Journal: Arq Bras Cir Dig (2022)
MeSH terms: Laparoscopy / methods, Pancreatic Neoplasms / pathology, Case Reports, Adolescent, Female, Humans, Pancreas / pathology, Pancreatectomy / methods

Background:
Laparoscopic pancreatectomy is currently a widely used approach for benign and malignant lesions of the pancreas.
Aims:
This study aimed to describe how to perform a laparoscopic distal pancreatectomy using The Clockwise Technique.
Methods:
An 18-year-old female patient presented with a well-defined tumor in the pancreatic body with 4 cm in diameter that suggested a diagnosis of solid pseudopapillary tumor (Frantz's tumor). The patient was recommended for laparoscopic distal pancreatectomy by using The Clockwise Technique.
Results:
The clockwise, caudal-to-cephalic approach appears to have other significant technical advantages that facilitate the performance of the procedure.
Conclusions:
A laparoscopic distal pancreatectomy performed using The Clockwise Technique provides satisfactory outcomes.
Allergy to soft cannula of insulin pump in diabetic patient
Authors: Yu-Min Chen, Hui Huang
Journal: Pak J Med Sci (2017)
Keywords: allergy, diabetes, hyperglycemia, soft cannula
MeSH terms: Case Reports

Insulin pump is a relatively good choice for diabetic patients who require multiple daily injections with wide fluctuations of blood glucose. Patients using insulin pump therapy and still having uncontrolled blood glucose levels for various factors: insulin pump not working properly, insulin instability, insulin autoantibody, insulin allergy, etc. We described a 46-year-old woman with type 2 diabetes and progressive hyperglycemia after switching multiple daily insulin injections to insulin pump, due to allergy to soft cannula of insulin pump.
Metastatic transitional cell carcinoma of the bladder to the testis: a case report
Authors: Gregory N Kozak, Nicholas C Field
Journal: Case Rep Urol (2012)

An 84-year-old gentleman presented with onset of gross hematuria in September 2010. Follow-up investigations revealed T1 superficially invasive, poorly differentiated, papillary urothelial carcinoma. He subsequently had GreenLight laser for BPH and bladder neck contracture on two occasions. He developed a right hydrocele 16 months after initial presentation and during his hydrocelectomy, a rock-hard right epididymis and testicle were discovered. Pathology revealed metastatic urothelial carcinoma replacing nearly the entire testis with lymphovascular invasion.
Spontaneous Heterotopic Pregnancy: Diagnosis and Management
Authors: Katie P Nguyen, Marlekah Hudspeth, Honey Milestone
Journal: Case Rep Obstet Gynecol (2022)
MeSH terms: Case Reports

Background:
Heterotopic pregnancies albeit rare are conceivably life-threatening if missed. With the development of assisted reproductive techniques, the incidence has increased. Confirmation of an intrauterine pregnancy (IUP) should not preclude the existence of a heterotopic pregnancy.
Case:
A healthy 27-year-old patient (gravida 4, term 1, preterm 0, abortion 2, living 1) at approximately 5 weeks gestation through natural conception presented to the emergency room with acute abdominal pain and vaginal bleeding. Pelvic ultrasound showed evidence of an IUP and a right adnexal mass, raising suspicion for a heterotopic pregnancy. The patient underwent an uncomplicated laparoscopic right salpingectomy. An IUP was confirmed on ultrasound postoperatively. The patient had an early pregnancy loss at 8 weeks of gestation.
Conclusion:
With a high index of suspicion from clinical presentation and pelvic imaging, heterotopic pregnancy, while rare, should not be ruled out.
Postmortem diagnosis of COVID-19: Antemortem challenges of three cases at the 37 Military Hospital, Accra, Ghana
Authors: Seth A Attoh, Frederick Hobenu, Lawrence Edusei, Kwasi Agyeman-Bediako, Clement T Laryea, Edward O Nyarko, Michael K Amedi, Richard H Asmah, Edward Asumanu, Mary McAddy, Anthony Maison, Godwin Nyarko, Raymond D Fatchu, Kafui Akakpo
Journal: Afr J Lab Med (2020)
Keywords: covid-19, ghana, autopsy, false-negative, postmortem diagnosis

Background:
Consistency among clinical symptoms, laboratory results and autopsy findings can be a quality measure in the diagnosis of coronavirus disease 2019 (COVID-19). There have been classic clinical cases that have met the case definition of COVID-19 but real-time reverse-transcription polymerase chain reaction (rRT-PCR) tests of nasopharyngeal swabs were negative.
Objectives:
This study aimed to share pathological observations of autopsies performed at the 37 Military Hospital's Department of Anatomical Pathology on three presumed COVID-19 cases in Accra, Ghana.
Method:
Complete autopsies with detailed gross and histopathological analysis were conducted between April 2020 and May 2020 on three suspected COVID-19 cases, of which two had initial negative (rRT-PCR) nasopharyngeal tests. Postmortem bronchopulmonary samples of two cases were collected and tested by rRT-PCR for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).
Results:
The two postmortem bronchopulmonary samples tested for SARS-CoV-2 by rRT-PCR were positive. Though no postmortem bronchopulmonary sample was taken from the third case, a close contact tested positive for SARS-CoV-2 in later contact tracing. For all three cases, lung histopathological findings were consistent with Acute Respiratory Distress Syndrome.
Conclusion:
The outcome of COVID-19 testing is dependent on the sample type and accuracy of sampling amongst other factors. Histopathological findings vary and may be dependent on a patient's modifying factors, as well as the duration of infection. More autopsies are required to fully understand the pathogenesis of this disease in Ghanaians.
Spontaneous Passage of Left Ureteral Multiple Calculi from Caliceal Diverticular Calculi: A Case Report
Authors: Kohei Inui, Masaki Murata, Yuki Nakagawa, Yohei Ikeda, Tsutomu Nishiyama, Yoshihiko Tomita
Journal: J Endourol Case Rep (2019)
Keywords: caliceal diverticular calculi, conservative management, spontaneous passage
MeSH terms: Case Reports

Caliceal diverticular calculi are rather fixed and they are rare to be delivered spontaneously. We experienced a case of spontaneous passage of left ureteral multiple calculi from caliceal diverticular calculi. A 65-year-old female suffered from left back pain and was referred to our hospital. She was found to have left ureteral multiple calculi and left caliceal diverticular calculi. After a month observation, all ureteral calculi were delivered spontaneously. Multiple ureteral calculi from caliceal diverticular calculi could be delivered spontaneously and conservative management may be an option for the treatment.
False-Positive Blood Cultures in Acute Leukemia: An Underrecognized Finding
Authors: Stamatis Karakonstantis, Ioanna Manika, Maria Vakonaki, Anna Boula
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

The occurrence of false-positive blood cultures in patients with acute myeloid leukemia has been rarely described in the literature. Awareness of this finding is important to avoid unnecessary delays in initiating appropriate cytoreductive therapy. Here, we present the case of a 70-year-old male with acute leukemia and persistently positive blood cultures despite broad-spectrum antibiotic therapy. No source of infection could be found clinically, and no pathogen could be isolated from blood cultures. Inspection of the CO2 plots of the positive blood cultures showed a steady linear increase in CO2 levels, suggesting false-positive detection by the automated microbial detection system. Cytoreductive therapy was then initiated, and several subsequent blood cultures were negative.
Coexisting DCIS and phyllodes breast tumors in Young Chinese women: Case series
Authors: Luona Sun, Roger Zhu, Paula Ginter, Manmeet Malik, Kap-Jae Sung, J Melissa Hughes, Beth Siegel, Jacqueline Tsai
Journal: Int J Surg Case Rep (2019)

Introduction:
Breast cystosarcoma phyllodes tumors are rare and can be benign or malignant. All sub-divisions of phyllodes tumor-benign, borderline and malignant, can harbor carcinomas, although the incidence is extremely rare.
Methods:
We present two nonconsecutive cases of coexisting ductal carcinoma in situ (DCIS) and phyllodes breast tumors in young patients.
Methods & case presentation:
Retrospective review of two patient's medical record was performed. CASE 1: 30-year-old female underwent excisional biopsy for 3.48 cm mass found on ultrasound. Pathology revealed malignant phyllodes tumor with positive margin. On re-excision, patient was found to have 1.5 cm area of ductal carcinoma in situ (DCIS) with positive margin. Patient then underwent re-reexicision of DCIS with negative margin. Patient underwent chemotherapy and tamoxifen for three years without evidence of disease. CASE 2: 30-year-old female presented with 1.3 cm lesion found on ultrasound which core needle biopsy revealed a fibroepithelial tumor. Patient subsequently underwent excision biopsy which found 1.5 cm benign phyllodes tumor and 3.5 mm DCIS within the phyllodes tumor with negative margins. Patient declined additional chemotherapy or hormonal therapy and is currently considering mastectomy.
Conclusion:
Phyllodes tumors are rare and ones with a coexisting carcinoma are even less frequently encountered. The treatment plan can change upon diagnosis of the carcinoma via the pathology. Treatment should be guided by the type and stage of carcinoma detected which may include additional surgical resection and lymph node sampling.
De Novo Acute Myeloid Leukemia with Combined CBFB-MYH11 and BCR-ABL1 Gene Rearrangements: A Case Report and Review of Literature
Authors: Venkata Rakesh Sethapati, Ra'ed Jabr, Leyla Shune, Wissam El Atrouni, Patrick R Gonzales, Wei Cui, Shivani Golem
Journal: Case Rep Hematol (2020)
MeSH terms: Case Reports

Acute myeloid leukemia (AML) with inv(16)(p13.1q22) resulting in CBFB-MYH11 fusion is associated with a favorable prognosis. The presence of a KIT mutation modifies it to an intermediate prognosis. Additionally, inv(16) can cooperate with other genetic aberrations to further increase cell proliferation. Coexistence of inv(16) and t(9;22) is extremely rare (20 cases). We present a case of a 55-year-old male with elevated white blood cell count. Bone marrow evaluation and flow cytometry analysis were compatible with AML with monocytic features. Cytogenetic studies revealed two-related clones, a minor clone with inv(16) and a major clone with concurrent inv(16) and t(9;22) rearrangements. Fluorescent in situ hybridization studies confirmed these rearrangements. Molecular analysis detected a p190 BCR-ABL1 transcript protein. KIT mutations were negative. The patient was initially treated with standard induction regimen; 7 daily doses of cytarabine from day 1-day 7, 3 daily doses of daunorubicin from day 1-day 3, and 1 dose of Mylotarg (gemtuzumab ozogamicin) on day 1. The detection of t(9;22) led to the addition of daily doses of dasatinib (tyrosine kinase inhibitor) from day 7 onwards. The patient achieved complete remission on day 45. During his treatment course, he acquired disseminated Fusarium infection. Day 180 bone marrow evaluation revealed florid relapse with 64% blasts. Cytogenetic study showed clonal evolution of the inv(16) clone with no evidence of the t(9;22) subclone. Eventually, bone marrow transplantation was contraindicated, and the patient was transferred to palliative care. Literature review revealed that AML with co-occurrence of CBFB-MYH11 and BCR-ABL1 gene rearrangements was involved by only a small number of cases with de novo and therapy-related AML. Most cases were in myeloid blast crisis of chronic myeloid leukemia (CML). Treatment and prognosis among the de novo AML cases varied and majority of them achieved clinical remission. In contrast, these cytogenetic abnormalities in the blast phase of CML had a poor prognosis. As the prognosis and management of AML is dependent upon the underlying genetic characteristics of the neoplasm, it is imperative to include clinical outcome with such rare combinations of genetic alterations.
Agitation and Sugar Craving Related to Epilepsy Seizure
Authors: Rania Adel Hameed, Mohammad Reza F Aghdam
Journal: Case Rep Psychiatry (2021)
MeSH terms: Case Reports

Introduction:
Epilepsy is a chronic central nervous system disorder characterized by the recurrence of unprovoked seizures and can affect people of all ages. Seizure symptoms can vary widely in patients. Many papers have been published about agitation and epileptic seizures, but almost nothing about sugar cravings and agitation related to epilepsy. The purpose of this case report is to shed light on possibly a hidden symptom within the epilepsy field, in fact sugar cravings. Case presentation. A 12-year-old boy was referred to the children and adolescent psychiatric outpatient clinic with suspicion of ADHD. The boy has struggled with anxiety, concentration, and impulsivity. Because of intense agitation and sugar cravings, the patient was referred to EEG. The EEG shows pathological activity with bilatero-temporal to central epileptiform activity, not synchronized. After pathological EEG findings, the patient started treatment with Lamotrigine. Great improvement when it comes to agitation, moodiness, and reduction of sugar craving after starting with Lamotrigine.
Conclusion:
We consider inexplicable behavior or symptoms such as agitation and sugar craving may be related to epilepsy seizure. Therefore, it is important that these patients should be examined more closely with EEG to confirm or deny epilepsy.