OpenMed/multicare-articles huggingface dataset:
Bone Marrow-Liver-Spleen Type of Large B-Cell Lymphoma Associated with Hemophagocytic Syndrome: A Rare Aggressive Extranodal Lymphoma
Authors: Kirill A Lyapichev, Jennifer R Chapman, Oleksii Iakymenko, Offiong F Ikpatt, Uygar Teomete, Sandra Patricia Sanchez, Francisco Vega
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

Recently, an unusual subtype of large B-cell lymphoma (LBCL) with distinctive clinicopathologic features has been recognized; it is characterized by involvement of bone marrow with or without liver and/or spleen, but no lymph node or other extranodal sites, usually associated with fever, anemia, and hemophagocytic lymphohistiocytosis (HLH). Because of this distinctive clinical presentation, it has been designated "bone marrow-liver-spleen" (BLS) type of LBCL. To date there is only one series of 11 cases of BLS type of LBCL with detailed clinical, pathologic, and cytogenetic data. Herein, we describe a case of BLS type LBCL presenting with associated HLH in a 73-year-old female. The bone marrow core biopsy showed cytologically atypical large lymphoma cells present in a scattered interstitial distribution and hemophagocytosis and infrequent large lymphoma cells were seen in the bone marrow aspirate smears. Circulating lymphoma cells were not seen in the peripheral blood smears. The patient underwent treatment with chemotherapy (R-CHOP) but unfortunately passed away 2 months after initial presentation. BLS type of LBCL is a very rare and clinically aggressive lymphoma whose identification may be delayed by clinicians and hematopathologists due to its unusual clinical presentation and pathologic features.
Locked lung by looped hernia: a case report
Authors: Abu-Ahmed Z Rahman, Mukta Panda
Journal: Cases J (2009)

Background:
Large pleural effusions are usually symptomatic. We report a patient with asymptomatic massive left sided pleural effusion with left lung collapse secondary to a traumatic diaphragmatic hernia.
Case presentation:
A 44 year old male presented with recurrent pleural effusions over six weeks. His pleural effusion was first diagnosed incidentally on a chest X-ray after a fall. Extensive diagnostic studies were unyielding for the etiology of the effusion. A diagnostic and therapeutic video assisted thoracoscopy revealed a diaphragmatic hernia with inflamed, incarcerated omentum. After hernia repair there was no recurrence.
Conclusion:
This case underscores the obscure presentation of an incarcerated diaphragmatic hernia presenting as massive recurrent pleural effusions.
Inadvertent, Self-Induced Pneumoparotitis Provoking Pneumomediastinum
Authors: Emily R Youner, Robert Cox, Philip Zapanta
Journal: Cureus (2023)
Keywords: parotid gland, pneumomediastinum, pneumoparotid, pneumoparotitis, stensen's duct
MeSH terms: Case Reports

Pneumoparotid refers to the presence of air within the parotid gland and pneumoparotitis indicates overlying inflammation or infection. Several physiologic mechanisms exist to prevent the reflux of air and oral contents into the parotid gland, however, these safeguards can be overcome by high intraoral pressures, thus provoking pneumoparotid. Whereas the relationship between pneumomediastinum and air dissecting up into cervical tissues is well understood, the relationship between pneumoparotitis and free air traveling downwards through contiguous structures within the mediastinum is less defined. We present a case of a gentleman who experienced the sudden onset of facial swelling and crepitus in the context of inflating an air mattress with his mouth, who was ultimately found to have pneumoparotid with consequent pneumomediastinum. Discussion of this unusual presentation is important to facilitate recognition and treatment of this uncommon pathology.
Donor-Derived Smoldering Multiple Myeloma following a Hematopoietic Cell Transplantation for AML
Authors: Bita Fakhri, Mark Fiala, Michael Slade, Peter Westervelt, Armin Ghobadi
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

Posttransplant Lymphoproliferative Disorder (PTLD) is one of the most common malignancies complicating solid organ transplantation. In contrast, PTLD accounts for a minority of secondary cancers following allogeneic hematopoietic cell transplantation (HCT). Here we report on a 61-year-old woman who received an ABO-mismatched, HLA-matched unrelated donor hematopoietic cell transplantation from a presumably healthy donor for a diagnosis of acute myeloid leukemia (AML). Eighteen months following her transplant, she developed a monoclonal gammopathy. Bone marrow studies revealed 10% plasma cells, but the patient lacked clinical defining features of multiple myeloma (MM); thus a diagnosis of smoldering multiple myeloma (SMM) was established. Cytogenetic and molecular studies of the bone marrow confirmed the plasma cells were donor-derived. The donor lacks a diagnosis of monoclonal gammopathy of undetermined significance, SMM, or MM.
Outcome of a penetrating keratoplasty in a 3-month-old child with sclerocornea
Authors: Dominika Pohlmann, Mirjam Rossel, Daniel J Salchow, Eckart Bertelmann
Journal: GMS Ophthalmol Cases (2020)
Keywords: congenital corneal opacity, graft survival, pediatric keratoplasty, sclerocornea
MeSH terms: Case Reports

Sclerocornea is a rare congenital anomaly with clouding of the peripheral cornea that possibly extends up to the center of the cornea. Characteristically, a clear distinction (limbus) between sclera and cornea is lacking. Early surgical treatment is essential for preventing amblyopia, but penetrating keratoplasty in children carries a relatively high risk of complications. Especially for sclerocornea, penetrating keratoplasty has generally been reported to have a poor surgical outcome and a high risk of complications, including corneoscleral adhesions. Here, we report the 4-year follow-up on a child with sclerocornea, who was successfully operated on at the age of 3 months and had a favorable outcome. Our findings suggest that in some cases, penetrating keratoplasty may be an option to treat sclerocornea in young children.
Bilateral Tubal Pregnancy without Known Risk Factor
Authors: Hyacinthe Zamané, Barnabé Yameogo, Paul Dantola Kain, François Gueswendé Xavier Kaboré, Yobi Alexis Sawadogo, Sibraogo Kiemtoré, Sidbewenné Yacinthe Kaboré, Blandine Bonané Thiéba
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Spontaneous bilateral ectopic gestation is very rare. The authors report a case diagnosed and taken care of at Yalgado Ouedraogo Teaching Hospital, Ouagadougou. It was a 30-year-old patient with no known pathological history. She had presented at the obstetric emergencies with a state of hypovolemic shock by haemoperitoneum with digestive disorders, pelvic pain, vaginal bleeding, and a mention of delayed menstruation. The ultrasound coupled with the urinary immunological pregnancy test confirmed the diagnosis of ruptured ectopic pregnancy and a bilateral form was suspected. A laparotomy in emergency confirmed the diagnosis of bilateral ectopic gestation with a right ampullary unruptured pregnancy and a left isthmic ruptured gestation. A bilateral salpingectomy was performed and counseling was made for the use of medical help of procreation in case of future need of pregnancy.
Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene
Authors: Min Chen, Yixi Sun, Yeqing Qian, Na Chen, Hongge Li, Liya Wang, Minyue Dong
Journal: Front Genet (2022)
Keywords: foxp1 syndrome, rna analysis, wes, global developmental delay, intellectual disability, splicing variant
MeSH terms: Case Reports

FOXP1 syndrome is a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, and language delay, with or without autistic features. Several splicing variants have been reported for this condition, but most of them lack functional evidence, and the actual effects of the sequence changes are still unknown. In this study, a de novo splicing variant (c.1652 + 5 G>A) of the FOXP1 gene was identified in a patient with global developmental delay, mild intellectual disability, speech delay, and autistic features. Assessed by TA-cloning, the variant promoted the skipping of exon 18 and a premature stop codon (p.Asn511*), resulting in a predicted truncated protein. This variant, that is lacking the forkhead-box DNA-binding domain and nuclear localization signal 2, may disrupt the protein function and thus cause FOXP1 syndrome-related symptoms. Our study extends the phenotypic and allelic spectra of the FOXP1 syndrome.
Syphilitic coronary artery ostial stenosis resulting in acute myocardial infarction treated by percutaneous coronary intervention
Authors: Marcelo A Nakazone, Maurício N Machado, Raphael B Barbosa, Márcio A Santos, Lilia N Maia
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Cardiovascular abnormalities are well-known manifestations of tertiary syphilis infections which although not frequent, are still causes of morbidity and mortality. A less common manifestation of syphilitic aortitis is coronary artery ostial narrowing related to aortic wall thickening. We report a case of a 46-year-old male admitted due to acute anterior ST elevation myocardial infarction submitted to primary percutaneous coronary intervention successfully. Coronary angiography showed a suboccluded ostial lesion of left main coronary artery. VDRL was titrated to 1/512. The patient was discharged with treatment including benzathine penicillin. Previous case reports of acute myocardial infarction in association with syphilitic coronary artery ostial stenosis have been reported, but the fact that the patient was treated by percutaneous coronary intervention is unique in this case.
Residual foreign body in the neck after trauma results in the delayed rupture of the common carotid and internal jugular vein: a case report
Authors: Yan Luo, Hui Yuan, Zhong Sheng Cao
Journal: J Med Case Rep (2013)

Introduction:
Trauma and foreign body residue occurring in different settings are common in the neck. Some small injuries go unrecognized, and vascular injuries caused by the sharp penetrating trauma of a foreign body are very dangerous. Without early diagnosis and treatment, foreign body residue remains a major cause of mortality.
Case presentation:
A six-cm piece of wooden chopstick was not initially detected in the neck of a 24-year-old Chinese man presenting with a slight bleeding wound after a brawl accident. Three days later, the patient had an expanding neck hematoma and shortness of breath. Computed tomography revealed a dense shadow in the soft tissue of the left side of the patient's neck, and surgical exploration found that a residual broken chopstick had resulted in a delayed rupture of the common carotid artery and internal jugular vein.
Conclusion:
A residual foreign body should be seriously considered after neck trauma because it can result in a lethal hemorrhage originating from a delayed rupture of blood vessels.
Diplopia and Optic Disc Edema as the Ocular Manifestations of COVID-19 in a Seven-Year-Old Child
Authors: Anna Rzeszotarska, Marta Pawlak, Chmielarz-Czarnocińska Anna, Justyna Szczapa-Jagustyn, Jarosław Kocięcki, Joanna Siwiec-Siwiec-Prościńska, Anna Gotz-Więckowska
Journal: Case Rep Pediatr (2022)
MeSH terms: Case Reports

Serious ocular complications due to SARS-CoV-2 disease in children are rare. Herein, we present a case report of a seven-year-old patient, who was diagnosed with pediatric inflammatory multisystem syndrome (PIMS) due to COVID-19 and developed the ocular manifestations comprising diplopia and binocular optic disc edema. The patient condition improved within few weeks without any ocular sequels so far.
Combined cardiac anomalies in Noonan syndrome: A case report
Authors: Natraj Setty H S, Shankar S, Rahul Patil, Santosh Jadhav, Yeriswamy M C, Babu Reddy, Jayashree Kharge, T R Raghu, Sandeep Shankar, Sathwik Raj, Chethan N, Nithin M, C N Manjunath
Journal: Int J Surg Case Rep (2020)
Keywords: 2d-echocardiography, asd, biventricular hypertrophy, case report, noonan syndrome
MeSH terms: Case Reports

Introduction:
Noonan syndrome is the second most common syndromic cause of congenital heart disease. Most patients have an autosomal dominant inheritance, but some cases may be sporadic. Pulmonary stenosis is the most common cardiac manifestation in Noonan syndrome, associated with the atrial septal defect and hypertrophic cardiomyopathy. A combination of these three is present only in 5% of patients.
Presentation of case:
We report a case of a 21-year-old female who presented to our hospital concomitant cardiac lesions associated with pulmonary stenosis, atrial septal defect, and hypertrophic cardiomyopathy. This combination of cardiac defects is an infrequent manifestation of Noonan syndrome. The patient presented with complaints of exertion syncope over the past two years. 2D-Echocardiography showed biventricular hypertrophy, dysplastic pulmonary valve, severe pulmonary stenosis, asymmetric septal hypertrophy and large atrial septal defect. The genetic analysis report showed autosomal dominant inheritance with Ras/MAPK (mitogen-activated protein kinase) Positive.
Discussion:
Due to the wide spectrum of symptoms and presentations in Noonan cases, accurate clinical and genetic diagnosis, and comprehensive management of the disorder are strongly recommended.
Conclusion:
We have described a case of rare combination of cardiovascular defects in Noonan Syndrome with a view to achieve better insight into the disease course and advantages of timely treatment and follow up. Our patient is currently in follow-up after treatment with percutaneous balloon pulmonary valvuloplasty, has improved symptoms, and is awaiting heart transplant.
Paraneoplastic limbic encephalitis resembling acute herpetic encephalitis
Authors: Ioannis Markakis, Athanasios Papathanasiou, Ermioni Papageorgiou, Kostantinos Siarkos, Georgios Gkekas
Journal: Case Rep Neurol Med (2013)

Introduction. Paraneoplastic limbic encephalitis (PLE) is a rare disorder that typically follows a chronic or subacute course of personality changes, memory loss, seizures, and hallucinations. Early diagnosis is difficult and characteristic symptoms can be mimicked by a variety of conditions. We present a case of PLE, initially presenting as acute herpetic encephalitis. Case Presentation. A 56-year-old male was admitted for evaluation of acute onset headache, fever, and confusion. On neurological examination he was confused with MMSE score of 15/30. CSF analysis revealed marked lymphocytic pleocytosis. A possible diagnosis of acute herpetic encephalitis was rendered and patient was treated with acyclovir. CSF PCR was negative. Cranial MRI revealed bilateral hyperintense lesions in medial temporal lobes with contrast enhancement. Despite treatment with acyclovir patient was deteriorated; thus, a paraneoplastic syndrome was suspected. Chest CT showed a right paratracheal lymph node mass, while a biopsy revealed neuroendocrine lung cancer. Auto antibodies to Hu were also detected. The patient was treated with steroids and chemotherapy. Six months later, he had complete tumour remission and marked neurological improvement. Discussion. PLE can rarely invade acutely, being indistinguishable from herpetic encephalitis. Inclusion of PLE in the differential diagnosis of acute encephalitis is of great clinical significance.
Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion
Authors: Liang-Liang Fan, Yue Sheng, Chen-Yu Wang, Ya-Li Li, Ji-Shi Liu
Journal: Front Genet (2021)
Keywords: 7q terminal deletion syndrome, 7q35-7q363 deletion, snp array, cerebellar sulcus widening, congenital brain dysplasia, developmental delay
MeSH terms: Case Reports

7q terminal deletion syndrome is a rare condition presenting with multiple congenital malformations, including abnormal brain and facial structures, developmental delay, intellectual disability, abnormal limbs, and sacral anomalies. At least 40 OMIM genes located in the 7q34-7q36.3 region act as candidate genes for these phenotypes, of which SHH, EN2, KCNH2, RHEB, HLXB9, EZH2, MNX1 and LIMR1 may be the most important. In this study, we discuss the case of a 2.5-year-old male patient with multiple malformations, congenital brain dysplasia, developmental delay, and intellectual disability. A high-resolution genome-wide single nucleotide polymorphism array and real-time polymerase chain reaction were performed to detect genetic lesions. A de novo 9.4 Mb deletion in chromosome region 7q35-7q36.3 (chr7:147,493,985-156,774,460) was found. This chromosome region contains 68 genes, some of which are candidate genes for each phenotype. To the best of our knowledge, this is a rare case report of 7q terminal deletion syndrome in a Chinese patient. Our study identifies a rare phenotype in terms of brain structure abnormalities and cerebellar sulcus widening in patients with deletion in 7q35-7q36.3.
CO2 Laser-Assisted Sclerectomy vs. Microcatheter-Assisted Trabeculotomy in the Management of a Bilateral Congenital Ectropion Uveae With Glaucoma: A Case Report and Literature Review
Authors: Min Chen, Yuhang Li, Bo Cheng, Qi Zhang, Xin Liu, Kaijun Wang
Journal: Front Med (Lausanne) (2022)
Keywords: co2 laser-assisted sclerectomy surgery, congenital ectropion uveae, glaucoma, intraocular pressure, microcatheter-assisted trabeculotomy
MeSH terms: Case Reports

Introduction:
Bilateral congenital ectropion uveae (CEU) is rare syndrome, usually accompanied by refractory glaucoma. Proper and timely treatment was very important for the prognosis. The report aims to compare the long-term outcomes and complications between the two eyes after different approaches of surgery in a case of bilateral CEU with advanced glaucoma.
Case presentation:
The patient was a 20-year-old male with bilateral CEU and glaucoma. The intraocular pressure (IOP) was 48 mm Hg in the right eye (OD) and 52 mm Hg in the left eye (OS). The vertical cup-to-disc (C/D) ratio was nearly 1.0 in both eyes. Despite maximum medical therapy, the target IOP could not be achieved. Therefore, CO2 laser-assisted sclerectomy surgery (CLASS) was performed in OS, and the IOP was remarkably decreased. 1 month after the surgery, the IOP rebounded slightly and was controlled with a fixed-combination anti-glaucoma medicine. 3-month postoperatively, a YAG laser goniopuncture (LGP) was performed to enhance the IOP-lowing effect and the anti-glaucoma agent was discontinued. An ab externo microcatheter-assisted trabeculotomy (MAT) was performed in OD, and the IOP was also significantly decreased. During the follow-up period, the IOP was well controlled for both eyes without any medication. Shallow anterior chamber and complicated cataract developed in OS after CLASS, and there was no obvious late complication in OD after MAT.
Conclusions:
To our knowledge, this was the first attempt to perform two different surgeries, CLASS and MAT, in both eyes of a single patient presented with bilateral CEU with glaucoma. Our results showed that the IOP was lower after CLASS, but there were potential complications such as shallow anterior chamber and complicated cataract. MAT could achieve a moderate IOP-lowing effect but had a higher safety. CLASS and MAT may be considered effective surgical options for the management of such patients.
Case report: Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney
Authors: He Biwei, Su Min, Wang Yanlin, Zhao Xinrong, Gao Li, Hua Renyi, Sun Jinling, Wang Shan, Wu Yi, Cheng Weiwei
Journal: Front Genet (2022)
Keywords: eec, genitourinary anomalies, p63, prenatal phenotypic spectrum, whole-exome sequencing
MeSH terms: Case Reports

Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefting. Reduced penetrance is manifested in these core features and additional under-recognized features, especially in prenatal cases. Here, we present a fetus with EEC syndrome at 22 weeks gestation, in which the cleft lip and palate and the right polycystic kidney are shown by prenatal ultrasound. A de novo missense mutation of R304W in the TP63 gene is confirmed by whole-exome sequencing associated with EEC syndrome. We further investigate the reported TP63-related prenatal cases and provide a more complete picture of the prenatal phenotypic spectrum about EEC. It illustrates the potential severity of genitourinary anomalies in TP63-related disorders and highlights the need to counsel for the possibility of EEC syndrome, given the occurrence of genitourinary anomalies with orofacial cleft or limb deformities.
Case Report: Let Us Not Forget the Treatment That Some Patients Have Received-The Brief 50-Year History of a Kidney Transplant Survivor
Authors: Espen Nordheim, Melinda Raki, Karsten Midtvedt
Journal: Front Med (Lausanne) (2022)
Keywords: biopsy, history, immunosuppressants, kidney, transplantation - kidney
MeSH terms: Case Reports

Background:
There has been a considerable improvement in post-transplant care since the early 1960s. Some patients we meet in the clinic have personally experienced this progress and have histories to tell that one must not forget. This is the brief history of a long-time "transplant survivor."
Case presentation:
In 1970, a young woman developed acute oedema, proteinuria, hypertension and oliguria during pregnancy. Labor was induced, but neither the child nor the kidney function could be saved. Our patient started dialysis, and 4 years later received a kidney transplant donated by her father (then 55 years of age). Maintenance immunosuppression consisted of prednisolone and azathioprine until 2011, when azathioprine was switched to everolimus due to skin cancer. Before this, our patient was highly satisfied with prednisolone/azathioprine, despite discussions regarding newer immunosuppressive drugs, and always reminded the treating physician that one should "never change a winning team." Retrospectively, the avoidance of calcineurin inhibitors might have been beneficial for this patient who still has preserved an excellent renal function with s-creatinine levels around 100 μmol/L and just had sparse fibrosis detected in a recently performed transplant biopsy. The transplanted kidney is now 101 years old and is still working 24/7.
Conclusions:
Our patient received a kidney transplant for 46 years ago and still has a remarkably stable transplant function with s-creatinine levels around 100 μmol/L. This case report illustrates the potential endurance of the kidneys and is a reminder to keep taking individualized treatment decisions even though new treatment alternatives promise superiority.
Refractory Scedosporium apiospermum Keratitis Successfully Treated with Combination of Amphotericin B and Voriconazole
Authors: Mohd-Tahir Fadzillah, Siti-Raihan Ishak, Mohtar Ibrahim
Journal: Case Rep Ophthalmol Med (2013)

Aim. To report a case of refractory fungal keratitis caused by Scedosporium apiospermum. Methods. Interventional case report. Results. A 47-year-old Malay housewife presented with left eye cornea ulcer as her first presentation of diabetes mellitus. There was no history of ocular trauma, contact lens used, or cornea foreign body. Scedosporium apiospermum was isolated from the cornea scrapping. Her cornea ulcer initially responded well to topical Amphotericin B within 3 days but subsequently worsened. Repeat cornea scrapping also yields Scedosporium apiospermum. This refractory keratitis was successfully treated with a combination of topical Amphotericin B and Voriconazole over 6 weeks. Conclusion. Scedosporium apiospermum keratitis is an opportunistic infection, which is difficult to treat despite tight control of diabetes mellitus and intensive antifungal treatment. The infection appeared to have very quick onset but needed long duration of treatment to completely heal. Surgical debridement always plays an important role as a therapeutic procedure as well as establishes the diagnosis through repeat scrapping.