OpenMed/multicare-articles huggingface dataset:
Intrauterine Transfusion Complicated by Umbilical Artery Thrombosis
Authors: Roopali V Donepudi, Kenneth J Moise Jr
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

Background:
Fetal anemia results from several conditions; however intrauterine transfusion (IUT) remains the treatment for severe cases. The complications of this procedure are rare and yet can result in preterm delivery or fetal death.
Case:
31 y/o G3P2002 with Rh alloimmunization underwent IUT from 19 to 35 weeks. Umbilical artery thrombosis was noted after her 5th IUT. Further transfusions were performed without any complications and she delivered a full term male infant with APGARS of 8 and 9 at 1 and 5 minutes, respectively.
Conclusion:
The complication of umbilical artery thrombosis is unusual and the optimal management is unclear. We report such a case and propose that the presence of Hyrtl's anastomosis near the placental cord insertion may explain the reassuring fetal status throughout the pregnancy.
Use of Transpulmonary Pressure Monitoring in the Management of Extrapulmonary Pediatric Acute Respiratory Distress Syndrome With multi organ dysfunction syndrome (MODS): Are We Peepophobic?
Authors: Mukul Pandey, Dhiren Gupta, Neeraj Gupta, Anil Sachdev
Journal: Clin Med Insights Case Rep (2019)
Keywords: peep, transpulmonary pressure, pediatric acute respiratory distress syndrome
MeSH terms: Case Reports

Manipulation of positive end-expiratory pressure (PEEP) has been shown to improve the outcome in pediatric acute respiratory distress syndrome (PARDS), but the "ideal" PEEP, in which the compliance and oxygenation are maximized, while overdistension and undesirable hemodynamic effects are minimized, is yet to be determined. Also, for a given level of PEEP, transpulmonary pressure (TPP) may vary unpredictably from patient to patient. Patients with high pleural pressure who are on conventional ventilator settings under inflation may cause hypoxemia. In such patients, raising PEEP to maintain a positive TPP might improve aeration and oxygenation without causing overdistension. We report a case of PARDS, who was managed using real-time esophageal pressure monitoring using the AVEA ventilator and thereby adjusting PEEP to maintain the positive TPP.
Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome
Authors: Qi Yang, Di Gong, Shang Yi, Jingsi Luo, Qinle Zhang
Journal: Front Pediatr (2023)
Keywords: nsd2 gene, rauch-steindl syndrome, de novo, truncating variants, wolf-hirschhorn syndrome
MeSH terms: Case Reports

Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder caused by a heterozygous deletion on chromosome 4p16.3, which is called the WHS critical region (WHSC). The major features of this disorder, including "Greek warrior helmet" facies, delayed growth, intellectual disability, seizures, and skeletal abnormalities, are caused by the combined haploinsufficiency of multiple genes. The WHS candidate 1 (WHSC1) gene, also known as NSD2, is located in the WHSC and has been reported to associate with Rauch-Steindl syndrome (RSS,OMIM 619695). RSS is a highly heterogeneous disease characterized by mild developmental delay, prenatal-onset growth restriction, low body mass index, and characteristic facial features distinct from WHS. In this report, using whole exome sequencing (WES), we identified a novel de novo heterozygous NSD2 truncating variant in a 7-year-old Chinese girl with Rauch-Steindl syndrome, including failure to thrive, facial dysmorphisms, developmental delay, intellectual disability, and hypotonia. These findings further support that haploinsufficiency of NSD2 is necessary for WHS, and molecular genetic testing is more accurate to diagnose these patients. The novel variant uncovered in this study further expands the mutation spectrum of NSD2.
Kimura's Disease in a Caucasian Female: A Very Rare Cause of Lymphadenopathy
Authors: Ewa Osuch-Wójcikiewicz, Antoni Bruzgielewicz, Magdalena Lachowska, Agata Wasilewska, Kazimierz Niemczyk
Journal: Case Rep Otolaryngol (2014)

Introduction. Kimura's disease is a rare chronic inflammatory disorder characterized by the head and neck lymphadenopathy often accompanied by eosinophilia and elevated serum IgE. It is benign condition with unknown etiology usually affecting young men of Asian race. Affected Caucasians are very rare. Case Presentation. We report a clinically and histopathologically typical case of this disease in a 40-year-old Caucasian female. In differential diagnosis particular attention has been paid to angiolymphoid hyperplasia with eosinophilia and neoplasms. Conclusion. The diagnosis of Kimura's disease can be very difficult and misleading; it is important not to ignore histopathological features. The presented patient has been under follow-up with no more symptoms of the disease for the last 1.5 years.
Liver Abscess due to Streptococcus pneumoniae: A Clinical Rarity
Authors: Srujana Mohanty, Manas Kumar Panigrahi
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

We report a case of pyogenic liver abscess caused by a rare causative agent, Streptococcus pneumoniae. A 45-year-old man with underlying uncontrolled diabetes mellitus who had stopped taking his daily dose of insulin since the last 4 days, presented with pain in the abdominal area of one-day duration. Upon his admission to achieve diabetic control, a routine ultrasound examination of abdomen revealed incidentally, a large abscess in the left lobe of the liver with impending rupture. Culture of the ultrasound-guided liver aspirate pus yielded pure growth of a penicillin-susceptible S. pneumoniae isolate. After 4 weeks of parenteral ceftriaxone therapy along with intensive regimen for diabetic control, the liver abscess became resolved, and the patient improved and was discharged with no residual infection or recurrence at four months and at one-year follow-up. A review of relevant literature related to S. pneumoniae liver abscess revealed a mention of such entity only on 4 previous occasions. The present case highlights an important though rare manifestation of S. pneumoniae infection and emphasizes the need to establish an early diagnosis of S. pneumoniae infection for improved patient survival and favourable outcome.
Zolpidem withdrawal seizure in an Iranian young woman: A case presentation
Authors: Pezhman Hadinezhad, Seyed Hamzeh Hosseini
Journal: Caspian J Intern Med (2021)
Keywords: case report, seizure, withdrawal, zolpidem
MeSH terms: Case Reports

Background:
Zolpidem is a non-benzodiazepine drug, approved by FDA for sleep induction. Zolpidem is thought to be a safer drug than benzodiazepines (BZD) because of no evidence of abuse or dependence potential, but several case reports of zolpidem abuse and dependence have been published along with a small number of cases demonstrating seizures after sudden zolpidem withdrawal.
Case presentation:
A 32-year-old unmarried woman suffering from major depressive disorder had been taking zolpidem for insomnia for more than 1 year. She began to take zolpidem alone without mixing other kinds of hypnotics, and 50 mg of zolpidem used to be initially effective in treating her insomnia. In some days the dose increased up to 100 mg per day. In the end, she had to discontinue zolpidem abruptly because she could not afford it anymore. After 2 days, she suddenly showed facial spasm, mouth opening, tonic-clonic seizure, and loss of consciousness for about 1-2 minutes. Post-ictal confusion with clouded consciousness, psycho-motor retardation, persisted in 1 day. EEG in wakefulness revealed intermittent, generalized, diffused alpha wave and diffused sharp waves, and suggested seizure waves in the patient.
Conclusion:
Our case suggested that the potential of zolpidem dependence and withdrawal seizure are also present in the Iranian population. The female-gender, high dosage and long-term use of zolpidem might be risk factors for the development of adverse effects.
A case of massive hepatic infarction in severe preeclampsia as part of the HELLP syndrome
Authors: Linda El Allani, Said Benlamkaddem, Mohamed Adnane Berdai, Mustapha Harandou
Journal: Pan Afr Med J (2020)
Keywords: hellp syndrome, preeclampsia, hepatic infarction, post-partum
MeSH terms: HELLP Syndrome / physiopathology, Hepatic Infarction / diagnostic imaging, Pre-Eclampsia / physiopathology, Case Reports, Abdominal Pain, Adult, Cesarean Section, Female, HELLP Syndrome / therapy, Hepatic Infarction / etiology, Humans, Pre-Eclampsia / therapy, Pregnancy, Tomography, X-Ray Computed

Hepatic infarction is a rare and fatal complication associated with hemolysis, elevated liver enzymes and low platelets syndrome. It can develop into fulminant liver failure and lead to death in 16% of cases. A 25-year-old woman, with unremarkable prenatal history, was sent to gynecological emergency unit for management of severe preeclampsia at 30 weeks and 4 days of pregnancy. Initial laboratory studies revealed aspartate aminotransferase at 290 U/L, alanine aminotransferase at 193 U/L and a normal value of hemoglobin, platelets and the prothrombin time. Behind the persistence of high blood pressure despite dual therapy, an emergent cesarean section was performed. However, two days after surgery, the patient accused an epigastric pain and was subsequently noted to have developed HELLP syndrome: thrombocytopenia (77000 /ul), anemia (hemoglobin 9.1 g/dL) and worsened liver injury (aspartate aminotransferase 2809 U/L; alanine aminotransferase 2502 U/L). A thoraco-abdominopelvic computed tomography (CT) was performed, which revealed massive hepatic infarction more marked on the right lobe, by showing the existence of diffuse hypodense plaques, poorly limited, not enhanced after injection, interesting all hepatic segments. The vascular permeability of the portal and subhepatic was preserved. During the surveillance, the laboratory tests worsened (hemoglobin = 4,6 g/dl; platelets count = 20000 /ul; WBC = 26000 /ul; CRP = 340 mg/l; albumin = 16 g/l, prothrombin time (PT) = 50%). The patient received antibiotics, she was transfused by red blood cells and platelets concentrates, she also received albumin with the pleural effusion drainage. The damaged hepatic areas stayed stable in control CT and the patient gradually improved here biological test, to become normal at 11 days after delivery. Hepatic infarction is an extraordinarily rare complication of preeclampsia. The diagnosis should be suspected by noting elevated liver enzymes, thrombocytopenia and typical images of hepatic infarction on abdominal CT. Early recognition and multidisciplinary management is necessary to prevent hepatic failure and death.
Incidental biliary adenofibroma with dysplastic features
Authors: M A Jacobs, C Lanciault, S Weinstein
Journal: BJR Case Rep (2015)
MeSH terms: Case Reports

We present a case of an incidentally detected cystic liver mass on CT scan, with histology showing biliary epithelium embedded in fibrous stroma and dysplastic features, consistent with an adenofibroma. This is only the third case described in the literature with malignant histology and the first case with angiographic imaging and subsequent management with preoperative embolization prior to surgical resection. We discuss the differential of the imaging findings and the features of this rare entity. Because of the risk of malignant transformation, consideration of this tumour is important to ensure early detection and ultimately resection for improved survival.
Ischemic Stroke following COVID-19 in a Patient without Comorbidities
Authors: Rizaldy Taslim Pinzon, Maria Devita Kumalasari, Hana Kristina
Journal: Case Rep Med (2021)
MeSH terms: Case Reports

Background:
Stroke is a rare complication of COVID-19. Post-COVID-19 stroke occurs mainly in older patients who have preexisting vascular risk factors. Most strokes are possibly related to hypercoagulability associated with COVID-19 where elevated D-dimer levels were the most common finding. In this case, post-COVID-19 ischemic stroke occurred in a relatively young patient without preexisting cerebrovascular risk factors which were rarely reported before. Case Presentation. A 40-year-old male presented lack of concentration, sluggish mind, and forgetfulness. The patient has a positive COVID-19 history 5 weeks ago. The noncontrast MSCT scan confirmed multifocal lacunar cerebral infarction on the left lateral ventricle. Laboratory tests showed an increase in D-dimer of 1.22 g/ml.
Conclusion:
In COVID-19 patients without comorbidities, ischemic stroke should be considered.
Spontaneous closed zone IV rupture of flexor digitorum profundus tendon to the fifth finger
Authors: Harry Whitehouse, Jeffrey C Y Chan, Matthew James
Journal: Case Reports Plast Surg Hand Surg (2018)
Keywords: flexor digitorum profundus, rupture, spontaneous, zone iv
MeSH terms: Case Reports

We present a case of spontaneous closed flexor digitorum profundus (FDP) tendon rupture of the fifth finger occurring in the carpal tunnel region (Zone IV) of the hand. A review of literature illustrates that spontaneous rupture of FDP in Zone IV is extremely rare and we wish to highlight this.
Diffuse benign inflammatory gastric polyps: A rare case in a young female: Case report and review of the literature
Authors: ZongYao Zhang, ZhengChang Guo, JiaJia Zhang, Xin Yu
Journal: Front Surg (2023)
Keywords: case report, diagnosis, diffuse gastric polyps, inflammatory polyps, surgical intervention
MeSH terms: Case Reports

Background:
Gastric polyps are one of the most common clinical diseases arising from the mucosal surface of the stomach. The benign nature of the gastric polyp and its absence of symptoms have been widely accepted. Diffuse benign inflammatory polyps spanning the entire gastric mucosa are relatively rare in young people.
Case presentation:
Our objective was to report a 20-year-old woman who presented with epigastric pain and vomiting; upper gastrointestinal barium contrast roentgenography demonstrated a huge defect in the filling of the stomach. Upper endoscopy also showed the presence of dense inflammatory polyps in the stomach that were the cause of the severe pylorus obstruction. The diffuse benign gastric polyps were diagnosed as inflammatory gastric polyps on the basis of findings on the histopathological examination. She was delivered as a result of the operating procedure of total gastrectomy and Roux-en-Y anastomosis of the esophagus and jejunum. Postoperative nutritional support therapy was also implemented. Postoperative pathological examination revealed inflammatory papillary and villous polyps distributed over the stomach, and eosinophilic infiltration was found in the local area of the polyp. Polyps move like tufts of coral. During the 16-month follow-up, patients with symptoms of malnutrition and anemia recovered.
Conclusion:
Nutritional support and a total gastrectomy were used to improve this patient's symptoms of malnutrition and anemia. Surgical intervention with appropriate nutritional support should be actively performed in these patients while strengthening the differential diagnosis of hereditary disease.
An Unusual Initial Presentation of Diffuse Large B-Cell Lymphoma as Recurrent Syncope
Authors: Kunhwa Kim, Harpreet Kaur, Matthew Chan, Manju Balasubramanian, Sorab Gupta, Vinicius M Jorge
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

We describe a rare presentation of diffuse large B-cell Lymphoma (DLBCL) with recurrent episodes of syncope. During the workup for syncope, the patient was incidentally found to have an extensive mass in the left thorax, which was later diagnosed as stage 2 bulky disease DLBCL. This is the rare case of lymphoma presenting as recurrent syncope without cardiac involvement. The patient did not have any further episodes of syncope after her successful treatment of DLBCL.
Identification of a likely pathogenic structural variation in the LAMA1 gene by Bionano optical mapping
Authors: Min Chen, Min Zhang, Yeqing Qian, Yanmei Yang, Yixi Sun, Bei Liu, Liya Wang, Minyue Dong
Journal: NPJ Genom Med (2020)
Keywords: diagnosis, genetics research
MeSH terms: Case Reports

Recent advances in Bionano optical mapping (BOM) provide a great insight into the determination of structural variants (SVs), but its utility in identification of clinical likely pathogenic variants needs to be further demonstrated and proved. In a family with two consecutive pregnancies affected with ventriculomegaly, a splicing likely pathogenic variant at the LAMA1 locus (NM_005559: c. 4663 + 1 G > C) inherited from the father was identified in the proband by whole-exome sequencing, and no other pathogenic variant associated with the clinical phenotypes was detected. SV analysis by BOM revealed an ~48 kb duplication at the LAMA1 locus in the maternal sample. Real-time quantitative PCR and Sanger sequencing further confirmed the duplication as c.859-153_4806 + 910dup. Based on these variants, we hypothesize that the fetuses have Poretti-Boltshauser syndrome (PBS) presenting with ventriculomegaly. With the ability to determine single nucleotide variants and SVs, the strategy adopted here might be useful to detect cases missed by current routine screening methods. In addition, our study may broaden the phenotypic spectrum of fetuses with PBS.