OpenMed/multicare-articles huggingface dataset:
Central Pontine Myelinolysis with Minimal Hyponatremia in the Setting of AIDS
Authors: Joseph M Carrington, Galo Sanchez, Jennifer L Berkeley
Journal: Case Rep Neurol Med (2015)

Central pontine myelinolysis (CPM) is classically attributed to overly rapid correction of profound hyponatremia. However, there are case reports of this disease in the setting of normal serum sodium or minimal hyponatremia. These cases have been hypothesized to be secondary to other metabolic disturbances such as hyperglycemia or hypophosphatemia. Eunatremic CPM has also been described in patients with advanced acquired immune deficiency syndrome (AIDS). The mortality risk in this special population is significantly higher than those with hyponatremia-associated CPM, but the mechanisms are unclear. We discuss a case of a man with AIDS who developed CPM with minimal hyponatremia and no other metabolic disturbances. Common variables within this population, such as hypoalbuminemia and lymphoma, are discussed as potential factors contributing to the pathophysiology. Reporting these atypical cases is crucial to our understanding of how to prevent future cases.
Giant Aneurysm of the Left Main Coronary Artery: A Case Report
Authors: Burak Açar, Sefa Ünal, Çağrı Yayla, Ahmet Göktuğ Ertem, Bihter Şentürk, Mustafa Özdemir, Mustafa Mücahit Balcı, Orhan Maden
Journal: J Tehran Heart Cent (2018)
Keywords: coronary aneurysm, coronary vessel anomalies, multidetector computed tomography
MeSH terms: Case Reports

Coronary artery aneurysms are rare findings in patients referred for coronary angiography. Their prevalence ranges between 0.2% and 6% in different case series. We describe a male patient with a huge left main coronary artery aneurysm causing exertional angina, which was diagnosed with coronary angiography. All of the left coronary system arose from the aneurysm. He underwent coronary angiography again, followed by multislice computed tomography with a three-dimensional reconstruction. Although there is no known standard treatment modality for such aneurysms, we planned medical therapy after consultation with the cardiovascular surgery department. The patient's first visit was in March 2013, and he was thereafter followed up until September 2016.
Peripartum Cardiomyopathy-Induced Cardiogenic Shock Causing Hypoxic-Ischemic Encephalopathy in a COVID-19 Patient
Authors: Minh Khoi Le, Thanh Hieu Nguyen
Journal: Case Rep Crit Care (2022)
MeSH terms: Case Reports

Background:
Cardiogenic shock complicating peripartum cardiomyopathy (PPCM) is a rare but lethal syndrome. The etiology of PPCM is not fully elucidated and is probably multifactorial, and viral infection might play some role. It has been documented that the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) directly invades the cardiomyocytes and most commonly damages this vital organ via complex systemic devastating mechanisms. Case presentation. A 28-year-old pregnant female was admitted to a COVID-19 field hospital due to a SARS-CoV-2 infection. She gave birth by spontaneous vaginal delivery at 34 gestational weeks. Six hours after the delivery, she presented signs of hemodynamic collapse and became comatosed, requiring a transfer to the COVID-19 intensive care center. The brain magnetic resonance imaging excluded thromboembolism, intracerebral hemorrhage, and central nervous system infection and revealed a hypoxic-ischemic encephalopathy. Bedside echocardiography documented a dilated left ventricle and severely reduced left ventricular systolic function with an ejection fraction of 24%. The management was aimed at a cardiogenic shock secondary to peripartum cardiomyopathy. The clinical course was favorable: the hemodynamics stabilized, the cognitive function fully recovered, and the patient was extubated on the second day of admission to the intensive care unit. The patient was discharged from the hospital ten days after admission. Neurological and cardiovascular checkups six months after discharge showed full recovery.
Conclusion:
Peripartum cardiomyopathy-induced cardiogenic shock with severe neurological consequences in COVID-19 patients was rare but did exist. A systemic approach and vigorous efforts to pinpoint the accurate diagnosis played important roles in the prompt and appropriate management.
Refractory giardiasis in a child with steroid-resistant nephrotic syndrome
Authors: Jitu Mani Kalita, Kirtika Sharma, Naila Mohammad, Vibhor Tak, Aliza Mittal, Vijaya Lakshmi Nag
Journal: Access Microbiol (2023)
Keywords: giardia intestinalis, corticosteroid, nephrotic syndrome, nitroimidazole
MeSH terms: Case Reports

Giardiasis is an infection of the small intestine caused by the protozoan parasite Giardia intestinalis and one of the most common parasitic intestinal diseases in humans worldwide. It mainly manifests as a self-limited illness in the case of immunocompetent patients and usually does not require treatment. However, immunodeficiency is a risk factor for the onset of severe Giardia infection. In this report, a case of recurrent giardiasis refractory to nitroimidazole therapy is presented. A 7-year-old male patient with steroid-resistant nephrotic syndrome came to our hospital because of chronic diarrhoea. The patient was on long-term immunosuppressive therapy. Microscopic examination of stool showed a significant number of trophozoites and cysts of G. intestinalis. Treatment with metronidazole for longer duration than recommended has failed to clear the parasite in the present case.
Missed Giant Lower Esophageal Leiomyoma in a Young Female Presenting with Refractory Gastroesophageal Reflux Disease
Authors: Duc Trong Quach, Luu Huy Le, Quy-Dung Dang Ho
Journal: Case Rep Med (2021)
MeSH terms: Case Reports

Esophageal leiomyoma is a rare disease commonly reported in middle-aged patients with a male predominance. Many patients are asymptomatic, and a few may present with symptoms such as dysphagia and chest pain. However, heartburn is only reported in patients with accompanying hiatal hernia. We hereby report a giant lower esophageal leiomyoma with concomitant hiatal hernia in a young Vietnamese female, who presented with refractory gastroesophageal reflux symptoms. The diagnosis was challenging as the tumor grew outward. As a consequence, the patient did not experience dysphagia and the tumor was hardly detected under endoscopy. The hiatal hernia in this patient was probably related to the presence of the leiomyoma. It is important to look carefully for submucosal tumor at the lower esophagus and cardia under endoscopy in patients with similar manifestations.
Open abdomen management for massive intestinal infarction due to acute splanchnic venous thrombosis in a patient with protein S deficiency. A case report
Authors: Annamaria Di Bella, Alessandro Bruscino, Giovanni Alemanno, Carlo Bergamini, Paolo Prosperi
Journal: Int J Surg Case Rep (2020)
Keywords: intestinal infarction, open abdomen, portomesenteric, protein s deficiency, splanchnic thrombosis, thrombophilia, thrombosis
MeSH terms: Case Reports

Introduction:
Acute mesenteric ischemia (AMI) refers to the sudden onset of intestinal hypoperfusion that can also result from splanchnic venous occlusion. The portomesenteric venous system (PMVS) is an unusual site of thrombosis in patients with protein S deficiency and its obstruction is a rare cause of AMI. Aim of this report is to illustrate a successful strategy in a case of massive small bowel infarction managed with an open abdomen (OA) approach.
Case presentation:
A 64 year-old woman presented to the emergency department with acute abdominal pain, rectal bleeding, diarrhea and vomiting. Contrast-enhanced computed tomography (CECT) showed small bowel ischemia and the complete occlusion of all the PMVS branches. Surgery was performed with an OA approach and anticoagulation was immediately begun. Further workup revealed isolated protein S deficiency and history of atrophic gastritis. Thromboprophylaxis with warfarin was started on discharge and no recurrence of thrombotic events was recorded during the one-year follow-up.
Discussion:
PMVS thrombosis related to protein S deficiency is a rare condition that can rapidly lead to an acute abdomen. CECT is the gold standard, because it detects splanchnic thrombosis and its possible complications, like bowel ischemia. In case of surgery, a planned second-look operation is the best strategy to assess bowel viability and possible ischemic progression.
Conclusions:
OA management plays a fundamental role in case of resection for bowel ischemia. Patients with thrombosis at an uncommon site should be further investigated for prothrombotic states.
Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay
Authors: Morteza Hemmat, Xiaojing Yang, Patricia Chan, Robert A McGough, Leslie Ross, Loretta W Mahon, Arturo L Anguiano, Wang T Boris, Mohamed M Elnaggar, Jia-Chi J Wang, Charles M Strom, Fatih Z Boyar
Journal: Mol Cytogenet (2014)
Keywords: cma, complex chromosomal rearrangement (ccr), whole chromosome painting (wcp) fish, microarray
MeSH terms: Case Reports

Complex chromosomal rearrangements (CCRs) are balanced or unbalanced structural rearrangements involving three or more cytogenetic breakpoints on two or more chromosomal pairs. The phenotypic anomalies in such cases are attributed to gene disruption, superimposed cryptic imbalances in the genome, and/or position effects. We report a 14-year-old girl who presented with multiple congenital anomalies and developmental delay. Chromosome and FISH analysis indicated a highly complex chromosomal rearrangement involving three chromosomes (3, 7 and 12), seven breakpoints as a result of one inversion, two insertions, and two translocations forming three derivative chromosomes. Additionally, chromosomal microarray study (CMA) revealed two submicroscopic deletions at 3p12.3 (467 kb) and 12q13.12 (442 kb). We postulate that microdeletion within the ROBO1 gene at 3p12.3 may have played a role in the patient's developmental delay, since it has potential activity-dependent role in neurons. Additionally, factors other than genomic deletions such as loss of function or position effects may also contribute to the abnormal phenotype in our patient.
Safety of Sofosbuvir and Ribavirin Combination Therapy in a Patient Who Developed Anemia due to Ribavirin
Authors: Hirokazu Suii, Itaru Ozeki, Ryoji Tatsumi, Masakatsu Yamaguchi, Mutsuumi Kimura, Tomohiro Arakawa, Tomoaki Nakajima, Yasuaki Kuwata, Takumi Ohmura, Shuhei Hige, Yoshiyasu Karino, Joji Toyota
Journal: Case Reports Hepatol (2017)
MeSH terms: Case Reports

Interferon (IFN) and ribavirin (RBV) combination therapy was previously the standard of care for treatment of hepatitis C virus (HCV) genotype 2 infection. But, it often induced hemolytic anemia. In 2014, sofosbuvir (SOF) was approved for the treatment of chronic HCV genotype 2 in Japan. SOF/RBV therapy is more effective against genotype 2 than IFN/RBV therapy. We report a case of a 74-year-old woman with chronic HCV genotype 2b infection. She received five treatments including RBV and IFN therapy before SOF was approved and all of them were ineffective. Therapies that included RBV induced severe anemia and led to discontinuation of treatment. With pegylated IFN/RBV therapy, the maximum change in hemoglobin (Hb) from baseline was -3.7 g/dL. However, SOF/RBV therapy was effective and she achieved sustained virologic response (SVR) with a maximum change in Hb from baseline of only -1.2 g/dL. We also found reticulocyte count was very low during treatment in this case and speculate it was one of the reasons that she developed hemolytic anemia with RBV. In conclusion, SOF/RBV therapy is effective and allowed the patient to achieve SVR. An SOF/RBV regimen is safe and effective for patients who have or are at risk of anemia induced by RBV.
Renal Interstitial Invasion by Group A Streptococcus: A Rare Presentation
Authors: Francis Lomanta, Shankar Upadhyayula
Journal: Case Rep Infect Dis (2022)
MeSH terms: Case Reports

We report the case of a 5-year-old who had interstitial invasion of his kidneys with group A Streptococcus (GAS). Glomeruli and tubules were relatively preserved. He recovered from this event and was admitted a couple of months later with dilated cardiomyopathy needing a heart transplant. To our knowledge, this is the first reported case of direct invasion of renal interstitium by GAS.
A Pediatric Tumor Found Frequently in the Adult Population: A Case of Anaplastic Astroblastoma in an Elderly Patient and Review of the Literature
Authors: Christopher Payne, Ali Batouli, Kristen Stabingas, Dunbar Alcindor, Khaled Abdel Aziz, Cunfeng Pu, Elizabeth Tyler-Kabara, Robert Williams, Alexander Yu
Journal: Case Rep Neurol Med (2017)
MeSH terms: Case Reports

Astroblastomas are rare, potentially curable primary brain tumors which can be difficult to diagnose. We present the case of astroblastoma in a 73-year-old male, an atypical age for this tumor, more classically found in pediatric and young adult populations. Through our case and review of the literature, we note that this tumor is frequently reported in adult populations and the presentation of this tumor in the elderly is well described. This tumor is an important consideration in the differential diagnosis when managing both pediatric and adult patients of any age who present with the imaging findings characteristic of this rare tumor.
Minimally invasive CT guided treatment of intraspinal synovial cyst
Authors: Sergeja Kozar, Miran Jeromel
Journal: Radiol Oncol (2014)
Keywords: intraspinal synovial cyst, pain, percutaneous ct guided treatment, polymorbid patient, radiculopathy

Background:
Intraspinal synovial cysts of vertebral facet joints are uncommon cause of radicular pain as well as neurological deficits. They can be managed both conservatively and surgically.
Case report:
A 77-year old polymorbid patient presented with bilateral low back pain which worsened during the course of time and did not respond to the conservative treatment. A diagnosis of intraspinal synovial cyst was made using the magnetic resonance imaging (MRI). Percutaneous computed tomography (CT) guided injection with installation of local anesthetic together with corticosteroid and rupture of the cyst was successfully used. A month after the procedure his pain improved, the usage of analgesics diminished and his over-all quality of life improved.
Conclusions:
Percutaneous CT guided lumbar synovial cyst treatment is safe and reliable alternative to the surgical treatment in polymorbid patients with radiculopathy who are not able to tolerate general anesthesia and operation.
Acute Myocardial Infarction (AMI) Treated with Snake Antivenom
Authors: Waleed Salem, Mohamed Gafar Abdelrahim, Layth Al Majmaie, Mohammed Dahdaha, Faten Al-Bakri, Amr Elmoheen
Journal: Case Rep Emerg Med (2021)
MeSH terms: Case Reports

Cardiac complications following snakebites are uncommon but fatal. Here, we discuss a case of a snakebite that led to acute myocardial infarction (AMI). Forty-five-year-old male presented to the emergency room with snakebite on the right middle finger. He was given symptomatic treatment and admitted for observation. His vital signs and initial investigations were normal except for the white blood count that was high. During observation, he developed vomiting and bradycardia. He was diagnosed with a right bundle branch block on ECG. The patient developed chest pain after a few hours and was diagnosed with AMI on ECG. The toxicology team started antivenom therapy. His troponin kept rising initially but later started coming down without percutaneous intervention (PCI). He was treated successfully with antivenom therapy and discharged.
Primary immature teratoma of the uterus relapsing as malignant neuroepithelioma: case report and review of the literature
Authors: Meryam Ben Ameur El Youbi, Amina Mohtaram, Jinane Kharmoum, Imane Aaribi, Saoussane Kharmoum, Abdelilah Bouzoubaa, Hind M'rabti, Saber Boutayeb, Basma El Khannoussi, Hassan Errihani
Journal: Case Rep Oncol Med (2013)

Background. Although some mature cases of teratomas have recently been described in the cervix, they are not commonly found in the uterus, especially in immature forms. An immature uterine teratoma relapsing after surgery as malignant neuroepithelioma has never been reported in the literature. Case Presentation. We describe a case of immature teratoma which occurred primarily in the uterus in a 56-year-old female. Treatment consisted of total simple hysterectomy. Three months after surgery, the patient relapsed with voluminous pelvic mass and was treated with bleomycin, etoposide, and cisplatin-containing chemotherapy regimen. Conclusion. In this report and according to the pertinent literature, clinical and pathological features and management of uterine immature teratomas are discussed. The mainstay of treatment is surgery. The prognosis of this unusual disease remains uncertain.
An Unusual Case of a Large Extraovarian Endometrioma in an Adolescent
Authors: Wei-Guo Nicholas Loh, Nira Borok, Lyndal Anderson, Tanushree Rao
Journal: Case Rep Obstet Gynecol (2022)
MeSH terms: Case Reports

Endometriosis in adolescents is often underrecognized and is a contributing factor to significant delays in its diagnosis and management. Extraovarian endometrioma is uncommon, especially in the adolescent age range. We report on a rare case of a large extraovarian endometrioma involving the terminal ileum in an adolescent who presented with abdominal pain and a pelvic mass and its subsequent surgical management. It emphasizes the importance of having a broad differential diagnosis and considers endometriosis in any adolescent with pelvic pain and mass, especially in an atypical context. Increased awareness, education, and research on endometriosis in this young population are essential in order to overcome existing challenges in the early diagnosis and optimal management of this chronic gynaecological condition and avoid morbidity associated with advanced disease.
INVERSE KLIPPEL-TRENAUNAY SYNDROME
Authors: Mariana Franco Ferraz Santino, Maria João Paiva Lopes
Journal: Rev Paul Pediatr (2020)
MeSH terms: Klippel-Trenaunay-Weber Syndrome / diagnosis, Skin Abnormalities / pathology, Subcutaneous Tissue / pathology, Vascular Malformations / diagnostic imaging, Case Reports, Adolescent, Female, Humans, Magnetic Resonance Angiography / methods, Subcutaneous Tissue / blood supply, Vascular Malformations / pathology

Objective:
To report a rare case of inverse Kipplel-Trenaunay.
Case description:
A 16-year-old girl with a grayish-depressed plaque on her left thigh. Angioresonance showed a vascular malformation affecting the skin and subcutaneous tissue.
Comments:
Inverse Klippel-Trenaunay is a Klippel-Trenaunay syndrome variation in which there are capillary and venous malformations associated to hypotrophy or shortening of the affected limb. Modifications on the limb's length or width result from alterations in bones, muscles, or subcutaneous tissues. It has few described cases. Further clinical and molecular studies must be performed for a proper understanding.
Radiological findings in pelvic solitary fibrous tumour
Authors: Paul Johannet, Aya Kamaya, Gabriela Gayer
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Solitary fibrous tumour (SFT) is an uncommon, usually benign mesenchymal neoplasm. SFT was first described in the pleura, but has subsequently been reported to occur in numerous anatomic locations including the abdomen and pelvis. Abdominopelvic SFTs are typically an indolent process, in spite of reaching a large size by the time of diagnosis. The preferred treatment is complete resection followed by extended follow-up surveillance. The risk of local recurrence and metastasis correlates with tumour size and the histological status of surgical margins. We present the imaging findings of a large pelvic SFT in a 61-year-old female, including ultrasound, CT and MRI.
Case report: Novel homozygous HPGD variant leads to primary hypertrophic osteoarthropathy with intussusception and acro-osteolysis in a Chinese family
Authors: Yi Liu, Yinghui Wu, Hongxia Tang, Fan Liu, Yali Wu, Shasha Wang, Yan Ding, Wei Yin
Journal: Front Pediatr (2023)
Keywords: hpgd, acro-osteolysis, intussusception, primary hypertrophic osteoarthropathy (pho), vitamin d deficiency (vdd)

Objective:
To perform molecular genetic analysis of a patient diagnosed with primary hypertrophic osteoarthropathy (PHO) with malnourishment, intussusception, and acro-osteolysis.
Case presentation:
At the age of 7 years, a boy born to a consanguineous couple was diagnosed with PHO attributed to delayed closure of the cranial suture, eczema, clubbing of fingers, and swelling of the knee and ankle. Clinical characteristics and follow-up data for 3 years were collected and analyzed. Trio whole-exome sequencing (WES) and copy number variant sequencing were used to screen for causative genetic variants. Candidate variants of the patient and his parents were confirmed by Sanger sequencing. When he was 7 years old, trio WES found that he had biallelic novel variants c.498 + 1G > A, inherited from his parents, in the HPGD gene. The patient was markedly malnourished. Ultrasonography and computed tomography showed intussusception with a gradual expansion of the duodenum, localized intestinal wall thickening, and acro-osteolysis. Cross-sectional blood tests showed that the patient had continuously decreased levels of serum 25-hydroxy vitamin D and serum ferritin at the age of 7and 10 years.
Conclusion:
PHO due to HPGD defects is rare in pediatric patients, and finding homozygous novel c.498 + 1G > A has expanded the spectrum of causative variants of HPGD and provided a clue for genotype-phenotype correlation analysis. Similar to mouse model results, human HPGD deficiency may also cause abnormal digestive tract development, and related secondary vitamin D deficiency and acro-osteolysis should be considered in HPGD-related PHO.