OpenMed/multicare-articles huggingface dataset:
Quick and sustained clinical response to MEK inhibitor I in a NF1 patient with neurofibromas
Authors: Honoré Papalia, Frédérique Audic, Gabriel Revon Rivière, Arnauld Verschuur, Nicolas André
Journal: Ecancermedicalscience (2018)
Keywords: mek, children, glioma, neurofibroma, neurofibromatosis
MeSH terms: Case Reports

Neurofibromatosis 1 (NF1) is an autosomal dominant tumour predisposition disorder with a birth incidence of about 1 in 2,700 and prevalence of 1 in 4,560. The NF1 gene codes for an ubiquitous protein: neurofibromin. Neurofibromin interacts with the proto-oncogene RAS to suppress tumour formation. Individuals with germline inactivation of the NF1 gene have a propensity to develop both benign and malignant tumours. We report the case of a 12-year-old child with NF1, diagnosed at the age of 15 months, for whom the clinical course has been marked by the appearance of multiple cutaneous and paraspinal neurofibromas responsible for impaired walking, motor deficiency and pain. A treatment with an MEK inhibitor, trametinib, was initiated and led to a quick and sustained clinical response.
A Unique Case of Metformin-Associated Lactic Acidosis
Authors: Benjamin Gershkovich, Christopher McCudden, Kevin D Burns
Journal: Case Rep Nephrol (2018)
MeSH terms: Case Reports

Metformin-associated lactic acidosis [MALA] is a potentially fatal condition characterized by an elevation in serum lactate in patients with metformin exposure. An 82-year-old man with no prior renal history was brought to hospital after being found by his family in a confused state. He had a history of type 2 diabetes mellitus, and his medications included regular metformin. On arrival to our hospital he was conscious but confused and noted recent decreased oral intake. Initial investigations revealed severe acidemia (pH <6.75, undetectable bicarbonate), with elevated serum lactate, urea, creatinine, and hyperkalemia. He was treated with intravenous dextrose, crystalloids, and bicarbonate and underwent urgent hemodialysis. The patient responded well to supportive therapies and achieved full renal recovery one week after admission. He was discharged feeling well, with a new antihyperglycemic medication regimen. This case highlights the potential for life-threatening acidemia in cases of MALA. The case is further unique in that the patient was conscious and responded to questions on arrival, despite the serious metabolic disturbance, and recovered completely. From a safety standpoint, health care providers should advise and educate their patients about discontinuing metformin and other potentially harmful medications in the context of acute illness with volume contraction.
High altitude-related hypertensive crisis and acute kidney injury in an asymptomatic healthy individual
Authors: Edward Gilbert-Kawai, Daniel Martin, Michael Grocott, Denny Levett
Journal: Extrem Physiol Med (2016)
Keywords: acute kidney injury, high altitude, hypertension
MeSH terms: Case Reports

Background:
High-altitude exposure causes a mild to moderate rise in systolic and diastolic blood pressure. This case report describes the first documented case of a hypertensive crisis at altitude, as well as the first report of the occurrence of acute kidney injury in the context of altitude-related hypertension.
Case presentation:
A healthy, previously normotensive 30-year old, embarked on a trek to Everest Base Camp (5300 m). During his 11-day ascent the subject developed increasingly worsening hypertension. In the absence of symptoms, the individual initially elected to remain at altitude as had previously been the plan. However, an increase in the severity of his hypertension to a peak of 223/119 mmHg resulted in a decision to descend. On descent he was found to have an acute kidney injury that subsequently resolved spontaneously. His blood pressure reverted to normal at sea level and subsequent investigations including a transthoracic echocardiogram, cardiac magnetic resonance imaging, renal ultrasound, and urinary catecholamines were normal.
Conclusion:
This report challenges the view that transient rises in blood pressure at altitude are without immediate risk. We review the evidence that altitude induces hypertension and discuss the implications for the management of hypertension at altitude.
Response of Metastatic Chordoma to the Immune Checkpoint Inhibitor Pembrolizumab: A Case Report
Authors: Xiaoli Wu, Xiangwu Lin, Ying Chen, Wencui Kong, Jinhe Xu, Zongyang Yu
Journal: Front Oncol (2020)
Keywords: pbrm1 gene mutation, pd-1, chordoma, immunotherapy, pembrolizumab
MeSH terms: Case Reports

Chordoma is a rare primary bone tumor that exhibits insensitivity to radiotherapy and chemotherapy and has a poor prognosis. Currently, resection is the primary treatment for affected patients, but the subsequent rate of recurrence is high, and both overall survival (OS) and progression-free survival (PFS) are consequentially relatively short. This case report describes a patient who was diagnosed with metastatic chordoma that was found to possess the A1209fs mutation of the PBRM1 gene, which may be associated with beneficial responses to immunotherapies. The patient received pembrolizumab, an immune checkpoint inhibitor (ICI) that targets the PD-1 receptor of lymphocytes, as second-line therapy, which he tolerated well (the most frequent adverse events were abnormal liver function and hyperglycemia, both of which were only grades 1-2), and achieved a PFS duration of 9.3 months. We hope these results will promote further research that will clarify the mechanisms underlying this beneficial response and that will further explore the use of immunotherapies in this population.
Testicular-Epididymal Dissociation: Vas and Vessels May "Lead up the Garden Path"
Authors: Eleni Papageorgiou, Alberto Mantovani, Elena Monti, Caroline Brain, Naima Smeulders, Abraham Cherian
Journal: European J Pediatr Surg Rep (2019)
Keywords: embryological descent, intra-abdominal testis, laparoscopy
MeSH terms: Case Reports

The vas deferens and spermatic vessels entering the inguinal canal through the internal inguinal ring is thought to exclude an intra-abdominal testis. We present a case of high bilateral intra-abdominal testes on a 46,XY boy despite the vas deferens and good-sized vessels passing through the deep rings. Data were collected from clinical records, radiology (ultrasound, magnetic resonance imaging [MRI]), and endocrine blood tests. This case underlines the importance of following the pathway of embryological descent of the testis cranially as well as caudally during diagnostic laparoscopy, to avoid missing this rare anatomical variant.
Nd:YAG membranotomy for sub-inner limiting membrane hemorrhage: a case report
Authors: Larrea Jaime, Lacorzana Javier, Rivera-Valdivia Nicolás, Bueso Diego, Abdala-Caballero Carlos
Journal: Rom J Ophthalmol (2021)
Keywords: nd
MeSH terms: Basement Membrane / surgery, Laser Therapy / methods, Lasers, Solid-State / therapeutic use, Retinal Hemorrhage / surgery, Visual Acuity, Case Reports, Adolescent, Fluorescein Angiography, Fundus Oculi, Humans, Male, Retinal Hemorrhage / diagnosis

Case Description: A 16-year-old male patient presented with a 12-days sudden painless loss of vision in his left eye after diving in a lake. Best corrected visual acuity (BCVA) in the left eye was counting fingers. Anterior segment was unremarkable. Fundoscopy in the left eye revealed a pre-retinal hemorrhage in the macular region and swept-source ocular coherence tomography (SS-OCT) confirmed the location in the sub-inner limiting membrane (ILM) space. An Neodymium:YAG (Nd:YAG) laser membranotomy was performed the next day in order to drain the hemorrhage into the vitreous cavity. A couple of days after, the BCVA in the left eye improved to 20/ 25, at fundoscopy the blood being almost reabsorbed and the SS-OCT showing a resolution of the sub-ILM hemorrhage. Discussion: Due to Valsalva retinopathy, sub-ILM hemorrhage may lead to a sudden painless vision loss. Spontaneous resolution of the hemorrhage is possible but absorption may take a long time. During this period, intraretinal tissue migration and proliferation may lead to permanent structural damage. Posterior vitrectomy is a treatment option but the fact that it is an invasive procedure fuels the search for less invasive treatment methods and Nd:YAG laser membranotomy fits this place. Conclusion: Given the excellent results and low complication rates, Nd:YAG laser membranotomy is highly recommended to treat this condition as it offers a simple, relatively safe and a non-invasive treatment option for drainage of sub-ILM hemorrhages.
Cervical myelopathy due to a solitary osteochondroma: a case report
Authors: Toru Asari, Naoki Echigoya, Norihiro Sasaki, Gentaro Kumagai, Kazumasa Ueyama
Journal: Springerplus (2016)
Keywords: cervical myelopathy, exostoses, osteochondroma, surgical treatment

Introduction:
Osteochondroma is the most common benign bone tumor. However, the incidence of osteochondroma in the spine is reported to be very rare.
Case description:
This report presents the case of a 57-year-old man who suffered from osteochondroma of the cervical spine. He had bilateral lower extremity pain for 3 years, developing pain of right upper extremity and gait disturbance. Plain radiographic images and computed tomography scans showed bony lesion in right C6/7 foramen and C6 lamina. Magnetic resonance images of whole spine showed severe compression of spinal cord at the C6/7 and spinal canal stenosis at the L3/4 level. First, we performed a surgery of the cervical spine, and removed the tumor covered with the cartilaginous cap. The pathological diagnosis of the tumor was osteochodroma. After the surgery, the symptoms on his right upper extremity improved smoothly. Because the bilateral lower extremity pain remained, a L3/4 partial laminectomy was performed 1 month later, and the symptom improved. At 1 year after his primary operation, we could not find a recurrence of the tumor.
Conclusions:
It is very important to perform a complete en bloc resection of the tumor (especially cartilaginous cap) to prevent the recurrence.
Heterotopic Pregnancy: Case Series and Review of Diagnosis and Management
Authors: Somaia Elsayed, Nadine Farah, Mary Anglim
Journal: Case Rep Obstet Gynecol (2023)
MeSH terms: Case Reports

Introduction:
Heterotopic pregnancy (HP) refers to the simultaneous presence of intrauterine pregnancy (IUP) and ectopic pregnancy, which is very rare but potentially life-threatening. The spontaneous incidence of HP in the general population is 1/30,000. With the widespread use of assisted reproductive technology (ART), the incidence rises to 1/1,000. Aims and Methods. This is a prospective case series looking at the cases of heterotopic pregnancies presenting to the early pregnancy unit (EPU) in a tertiary maternity hospital, from November 2015 to November 2016. The clinical presentation, ultrasound findings, and laparoscopy findings were all documented. The incidence of HP was calculated and compared with the quoted incidence in the literature. Outcomes. Five women with HP presented to the EPU over the course of a year. The first case describes a spontaneous HP with a previous salpingostomy. The second case describes an HP following ovulation induction. The third case describes a spontaneous HP with no known risk factors. The fourth and fifth cases describe heterotopic pregnancies following in vitro fertilisation with more than one embryo. All five cases of HP underwent laparoscopy and salpingectomy with uneventful recovery. The three women who had a viable IUP had no further complications in their pregnancies.
Conclusion:
Early and accurate diagnosis of HP can be challenging. An early transvaginal ultrasound plays an important role in making the diagnosis in women with risk factors and following ART. A high index of suspicion is required for timely diagnosis and appropriate intervention, especially in spontaneous HP.
Post-traumatic Stress Disorder With Flashbacks of an Old Childhood Memory Triggered by Right Temporal Lobe Epilepsy Surgery in Adulthood
Authors: Antoine Yrondi, Luc Valton, Viviane Bouilleret, Nozar Aghakhani, Jonathan Curot, Philippe Jean Birmes
Journal: Front Psychiatry (2020)
Keywords: ctq, ptsd (post traumatic stress disorder), childhood trauma, epilepsy, hospital, surgery
MeSH terms: Case Reports

Background:
A plethora of data show that the hippocampus and the amygdala are involved in post-traumatic stress disorder (PTSD). Neural dysfunctions leading to PTSD (e.g. how the amygdala and the hippocampus are altered) are only partially known. The unusual case of a patient presenting with refractory epilepsy and developing PTSD immediately after surgery is described. Such symptoms in epileptic patients may help to explore PTSD mechanisms.
Case report:
A 41-year-old male suffering from partial refractory temporal lobe epilepsy was operated in May 2017. A right amygdala, hippocampus, and temporal pole selective resection was performed. He experienced intense PTSD symptoms 1 month after surgery. He complained about repetitive intrusive memories of abuse. The PTSD checklist score was equal to 62/80. He reported a history of childhood abuse: physical and emotional abuse as well as emotional negligence, assessed with the Childhood Trauma Questionnaire. No other medical history was recorded. He never complained about PTSD or any other psychiatric symptoms before surgery.
Conclusion:
this case indicates that PTSD may occur after temporal lobe epilepsy surgery and may specifically stem, as in this context, from the excision of part of the medial temporal lobe structures. Although rarely reported, PTSD may be undiagnosed when not selectively detected via multi-disciplinary neurological and psychiatric management, in the preoperative period and the immediate and delayed postoperative period.
Mycobacterium peregrinum Pacemaker Pocket Infection: A Case Report and Review of the Literature
Authors: A F Lazo-Vasquez, J A Gonzales-Zamora
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

Mycobacterium peregrinum is a rapidly growing mycobacterium (RGM), subspecies of Mycobacterium fortuitum complex, which can cause infections in the skin, surgical sites, and central lines. It has also been associated with implantable devices such as cardiac devices. Our objective is to present an atypical clinical case of M. peregrinum infection associated with a cardiac device, review the published literature, and highlight the importance of this type of RGM infection to enhance their therapeutic success. Only two other cases have been reported of M. peregrinum infection associated with cardiac devices. Diagnosis and treatment of Mycobacterium peregrinum infection can be challenging, and the literature is scarce. Better understanding and further research should be conducted regarding this infection.
A Giant Right Heart Thrombus-in-Transit: The Challenge of Anticoagulation in Factor V Leiden Thrombophilia
Authors: Andrew Chu, Thu Thu Aung, Minni Shreya Arumugam, Mauricio Danckers, Mohi Mitiek, Jonathan Leslie
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

Factor V Leiden (FVL) is an autosomal dominant condition resulting in thrombophilia. Factor V normally acts as a cofactor for prothrombinase, helping cleave prothrombin to thrombin. A single point mutation in it disrupts factor V, making it unreceptive to protein C and increasing the risk of thrombosis. FVL mutation associated with right heart thrombus is a rare entity. Right heart thrombus or right heart thrombus-in-transit is associated with high mortality. We present a 51-year-old male with a past medical history of FVL homozygous mutation and recurrent blood clots, who has failed multiple different oral anticoagulants. He presented to the hospital with symptoms of shortness of breath and subsequently found to have a giant right heart thrombus. He was treated with surgical embolectomy. This case underscores the challenges faced by patients with FVL and recurrent blood clots.
Hyperinsulinemic Hypoglycemia and Growth Hormone Deficiency Secondary to 20p11 Deletion
Authors: Erica Wee, John Herriges, Kavitha Dileepan, Sarah L Tsai, Joseph T Alaimo, Emily Paprocki
Journal: Case Rep Endocrinol (2023)
MeSH terms: Case Reports

Hypoglycemia is concerning for neurological complications in infants and children. Determining the cause of hypoglycemia is essential in providing appropriate treatment. Hyperinsulinism and growth hormone deficiency are known causes of hypoglycemia but are not commonly found together. We report a 4-month-old boy who presented with severe hypoglycemia and was found to have both hyperinsulinism and growth hormone deficiency. Treatment with both recombinant human growth hormone and diazoxide led to blood glucose normalization. Subsequently, he was found to have a genetic diagnosis of 20p11.22p11.21 deletion. 20p11 deletions have been associated with hypopituitarism, most commonly seen in growth hormone deficiency causing hypoglycemia. This case is one of a few to report hyperinsulinism as a manifestation of this deletion.
Case report: Goiter and overt hypothyroidism in an iodine-deficient toddler on soy milk and hypoallergenic diet
Authors: Angela Maria Caprio, Giuseppina Rosaria Umano, Caterina Luongo, Francesca Aiello, Iride Dello Iacono, Stefania Palumbo, Emanuele Miraglia Del Giudice, Anna Grandone
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: case report, children, cow’s milk allergy, goiter, hypothyroidism, soybean
MeSH terms: Goiter, Hypothyroidism, Iodine, Soy Milk, Case Reports, Review, Research Support, Non-U.S. Gov't, Diet, Humans, Iodine

Soy-based infant formulas (SFs) are often consumed by cow's milk allergic children. However, some concerns have risen since soy intake may adversely affect thyroid function in iodine-deficient or subclinical hypothyroid individuals. We report the first Italian case of SF induced goiter and hypothyroidism registered in our country since National Iodine program has been instituted. Finally, we review cases previously reported in literature. A 22-month-old toddler with a previous diagnosis of cow's milk protein allergy came to clinical attention for important goiter and overt hypothyroidism. Detailed dietary anamnesis revealed that he was on a restrictive dietary regimen based on soymilk since 12 months of age. A temporary levothyroxine substitution was instituted to avoid hypothyroidism complications. Adequate iodine supplementation and diet diversification completely reversed SF-induced hypothyroidism and goiter, confirming the diagnostic suspicion of soymilk-induced thyroid dysfunction in a iodine-deficient toddler. This case report demonstrates the importance of careful dietary habits investigation and adequate micronutrients supplementation in children on a restrictive diet due to multiple food allergies in order to prevent nutritional deficits.
Rhinosinusitis in a patient with Behçet's syndrome
Authors: Lauro João Lobo Alcântara, Alcides Trentin Júnior, Marcos Mocellin, João Gilberto S Mira, Fábio Robert, Ordival Augusto Rosa
Journal: Braz J Otorhinolaryngol (2005)
MeSH terms: Behcet Syndrome / complications, Rhinitis / etiology, Sinusitis / etiology, Case Reports, Child, Female, Humans, Rhinitis / diagnostic imaging, Rhinitis / surgery, Sinusitis / diagnostic imaging, Sinusitis / surgery, Tomography, X-Ray Computed

The condition known as Behçet's syndrome was first described by H. Behçet, a dermatologist from Turkey. Its major component is recurrent aphthous-like lesions of the oral mucosa. Some groups of people such as the Japanese are more prone to develop the condition. Behçet's syndrome is relatively rare in the American continent. In addition to oral lesions, these patients may develop recurrent genital ulcerations, uveitis, and pustular vasculitis of the skin, synovitis, and meningoencephalitis. The diagnosis is based on occurrence of internationally proposed major or/and minor criteria and on their combinations. Treatment is challenging and must be tailored to each patient according to the pattern of organ involvement, often requiring use of combined therapies. The clinical picture of the patients in this study confirmed Behçet's Syndrome diagnosis. Vasculitis was evidenced by the absence of bleeding during the handling of some very bloody potential areas. In the present case, not only the triggering but also the complications of rhinosinusitis (periorbitary abscess) were attributed to Behçet's vasculitis, specially the effects on bloody perfusion and draining. Rhinosinusitis is a potential symptom of Behçet's Syndrome. Physicians must pay attention to it in order to achieve satisfactory outcomes.
Rare appearance of an odontogenic myxoma in cone-beam computed tomography: a case report
Authors: Arash Dabbaghi, Nafiseh Nikkerdar, Soheyla Bayati, Amin Golshah
Journal: J Dent Res Dent Clin Dent Prospects (2016)
Keywords: cone-beam computed tomography, myxoma, odontogenic tumor
MeSH terms: Case Reports

Odontogenic myxoma (OM) is an infiltrative benign bone tumor that occurs almost exclusively in the facial skeleton. The radiographic characteristics of odontogenic myxoma may produce several patterns, making diagnosis difficult. Cone-beam computed tomography (CBCT) may prove extremely useful in clarifying the intraosseous extent of the tumor and its effects on surrounding structures. Here, we report a case of odontogenic myxoma of the mandible in a 27-year-old female. The patient exhibited a slight swelling in the left mandible. Surgical resection was performed. No recurrence was noted. In the CBCT sections, we observed perforation of the cortical plate and radiopaque line that extended from the periosteum, resembling "sunray" appearance-a rare feature of OM-which could not be assessed by panoramic radiography.
Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome
Authors: Raneem Habib, Heidemarie Neitzel, Aurelie Ernst, John K L Wong, Bozenna Goryluk-Kozakiewicz, Antje Gerlach, Ilja Demuth, Karl Sperling, Krystyna Chrzanowska
Journal: Mol Cytogenet (2018)
Keywords: cell line, nijmegen breakage syndrome, proliferative advantage, unbalanced translocation
MeSH terms: Case Reports

Background:
Nijmegen breakage syndrome is an autosomal recessive disorder characterized by microcephaly, immunodeficiency, hypersensitivity to X-irradiation, and a high predisposition to cancer. Nibrin, the product of the NBN gene, is part of the MRE11/RAD50 (MRN) complex that is involved in the repair of DNA double strand breaks (DSBs), and plays a critical role in the processing of DSBs in immune gene rearrangements, telomere maintenance, and meiotic recombination. NBS skin fibroblasts grow slowly in culture and enter early into senescence.
Case presentation:
Here we present an incidental finding. Skin fibroblasts, derived from a 9 year old NBS patient, showed a mosaic of normal diploid cells (46,XY) and those with a complex, unbalanced translocation. The aberrant karyotype was analysed by G-banding, comparative genomic hybridization, and whole chromosome painting. The exact breakpoints of the derivative chromosome were mapped by whole genome sequencing: 45,XY,der(6)(6pter → 6q11.1::13q11 → 13q21.33::20q11.22 → 20qter),-13. The deleted region of chromosomes 6 harbors almost 1.400 and that of chromosome 13 more than 500 genes, the duplicated region of chromosome 20 contains about 700 genes. Such unbalanced translocations are regularly incompatible with cellular survival, except in malignant cells. The aberrant cells, however, showed a high proliferation potential and could even be clonally expanded. Telomere length was significantly reduced, hTERT was not expressed. The cells underwent about 50 population doublings until they entered into senescence. The chromosomal preparation performed shortly before senescence showed telomere fusions, premature centromere divisions, endoreduplications and tetraploid cells, isochromatid breaks and a variety of marker chromosomes. Inspection of the site of skin biopsy 18 years later, presented no evidence for abnormal growth.
Conclusions:
The aberrant cells had a significant selective advantage in vitro. It is therefore tempting to speculate that this highly unbalanced translocation could be a primary driver of cancer cell growth.