OpenMed/multicare-articles huggingface dataset:
Delayed Cardiac Metastasis from Renal Cell Carcinoma Caused by VHL Mutation
Authors: Christopher L Sudduth, Anthony Castagno, Peter Maggs
Journal: J Kidney Cancer VHL (2023)
Keywords: vhl, cardiac, metastatic, mutation, renal cell carcinoma
MeSH terms: Case Reports

Cardiac metastasis caused by renal cell carcinoma (RCC) without vena caval involvement is rare. No mutation has been associated with this unique phenotype. A 77-year-old male presented to our clinic with a symptomatic right ventricular mass after nephrectomy for clear cell RCC (ccRCC). The mass was resected, and metastatic disease was confirmed. Targeted exon sequencing identified a VHL mutation (c.494T > G, p.V165G) in the resected specimen. While more than half of ccRCC cases are associated with VHL mutations, this case is the first to show the association between delayed, isolated cardiac metastasis and VHL V165G mutation. The phenotype presented 12 years after nephrectomy and localized to the right ventricular apex. Further genomic characterization of cases with cardiac metastases may provide clues regarding unique mutations noted. Patients exhibiting delayed spread of RCC to the heart must be screened for this mutation.
Squamous Cell Carcinoma Developing from a Testicular Epidermal Cyst: A Case Report and Literature Review
Authors: Ryo Kasahara, Ryosuke Tajiri, Kota Kobayashi, Masahiro Yao, Kazuo Kitami
Journal: Case Rep Urol (2019)
MeSH terms: Case Reports

A 50-year-old Japanese man with a two-year history of a painless right scrotal mass visited our hospital. Considering laboratory findings and computed tomography, the patient was diagnosed with an uncharacteristic testicular tumor. No metastases were present on radiographic study at the first visit. Emergent high radical orchiectomy was performed, and the tumor was identified as a squamous cell carcinoma (SCC) of a testicular epidermal cyst. He is alive without recurrence or metastasis six months after surgery. Testicular SCC is an extremely rare tumor. This is the third case of testicular SCC associated with an epidermal cyst in English literature.
Gallbladder Tuberculosis Mimicking Gallbladder Carcinoma: A Case Report and Literature Review
Authors: Yao Liu, Kai Wang, Heng Liu
Journal: Case Reports Hepatol (2016)

Gallbladder tuberculosis (GT) is extremely rare, and it is difficult to differentiate from other gallbladder diseases, such as gallbladder carcinoma and Xanthogranulomatous Cholecystitis. A correct preoperative diagnosis of GT is difficult. The final diagnosis is usually made postoperatively according to surgical biopsy. Here, we report a case of a patient who underwent surgery with the preoperative diagnosis of gallbladder carcinoma. We reviewed the literature and present the process of differential diagnosis between two or more conditions that share similar signs or symptoms.
Peutz-Jeghers syndrome with gastric-type mucinous endocervical adenocarcinoma and sex-cord tumor with annular tubules: A case report
Authors: Xuanyan Li, Yue Qi, Wenwen Zhang, Yang Rao, Na Zhang, Pengpeng Qu
Journal: Front Med (Lausanne) (2023)
Keywords: peutz-jeghers syndrome, diagnosis, gastric-type mucinous endocervical adenocarcinoma, sex-cord tumor with annular tubules, treatment
MeSH terms: Case Reports

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant genetic disorder characterized by mucocutaneous pigmentation and multiple hamartomatous polyps in the gastrointestinal tracts. About 11% of female PJS patients are diagnosed with Gastric-type endocervical adenocarcinoma (G-EAC) and about one third have a sex-cord tumor with annular tubules (SCTATs). Gastric-type endocervical adenocarcinoma is a special subtype of cervical adenocarcinoma which accounts for only 1-3%. Here we report a rare case of a 31-year-old woman affected with G-EAC and SCTAT accompanied by PJS. After surgery, we followed up for 5 years without recurrence.
Massive myocardial infarction in a full-term newborn: a case report
Authors: Vlasta Fesslova, Gina Lucci, Jelena Brankovic, Stefania Cordaro, Emilio Caselli, Guido Moro
Journal: Int J Pediatr (2010)
MeSH terms: Case Reports

A full-term female newborn with neonatal asphyxia and severe anemia (Hb 2.5 g/dL) with normal heart developed a massive myocardial infarction. No examinations were performed during pregnancy for parental nomadism. The baby had immediate external cardiac massage, ventilatory assistance, and blood transfusion. Cardiomegaly was evident at chest X-ray and marked signs of ischemia-lesion at ECG. Echocardiography showed dilated, hypertrophic, and hypocontractile left ventricle (LV), mitral and tricuspid regurgitation, and moderate pericardial effusion. Rh isoimmunization and infective agents were excluded at laboratory tests. Despite the treatment with inotropes, hydrocortisone, and furosemide, the baby worsened and died at 45 hours of life. Postmortem examination showed diffuse subendocardial infarction of LV and diffuse parenchymal hemorrhages and myocardial hypertrophy, increase of eosinophilia, and polymorphonucleated cells at histology. Our patient suffered apparently from longstanding fetal anemia of unknown etiology that led to perinatal distress, severe hypoxia, and massive myocardial infarction, unresponsive to the therapy.
Simultaneous treatment of a pubovesical fistula and lymph node metastasis secondary to multimodal treatment for prostate cancer: Case report and review of the literature
Authors: Giovanni Cochetti, Alessio Paladini, Graziano Felici, Angelica Tancredi, Valerio Cellini, Michele Del Zingaro, Ettore Mearini
Journal: Open Med (Wars) (2022)
Keywords: lymphadenectomy, prostate cancer, pubovesical fistula, radical cystectomy
MeSH terms: Case Reports

Pubovesical fistula (PVF) is a rare complication of radical treatments for prostate cancer (PCa), especially when a multimodal approach is performed. We present a case of PVF with extensive communication between the bladder and the pubic bones, and lymph node metastases of PCa treated by cystectomy and salvage lymphadenectomy. We describe a case of a 65-year old male patient who, after radical prostatectomy and adjuvant radiation therapy, suffered from suprapubic and perineal pain, ambulation difficulties and recurrent urinary tract infections. Cystoscopy, cystography and contrast-enhanced magnetic resonance imaging diagnosed a PVF. Choline positron emission tomography/computed tomography scan demonstrated PCa lymph node metastases. After the failure of conservative treatment, open radical cystectomy with ureterocutaneostomy diversion and salvage lymphadenectomy were performed with resolution of symptoms. At 3-month follow-up, the pelvic and perineal pain was completely regressed and 1-year later the patient was still asymptomatic. This clinical case shows efficacy and safety of combined salvage lymphadenectomy and cystectomy with urinary diversion for the treatment of late PCa node metastasis and PVF.
Severe SARS-CoV-2 Infection in a Pediatric Patient Requiring Extracorporeal Membrane Oxygenation
Authors: Shannon M Flood, Christina M Osborne, Blake Martin, S Christopher Derderian, Erin Stenson, Joseph A Grubenhoff
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

The overwhelming majority of pediatric cases of SARS-CoV-2 infection are mild or asymptomatic with only a handful of pediatric deaths reported. We present a case of severe COVID-19 infection in a pediatric patient with signs of hyperinflammation and consumptive coagulopathy requiring intubation and extracorporeal membrane oxygenation (ECMO) and eventual death due to ECMO complications.
Case Report: Campylobacter fetus caused pyogenic spondylodiscitis with a presentation of cauda equina syndrome after instrumented lumbar fusion surgery
Authors: Matevž Topolovec, Nataša Faganeli, Peter Brumat
Journal: Front Surg (2022)
Keywords: ces, campylobacter fetus, cauda equina syndrome, decompression, instrumented lumbar fusion, spondylodiscitis
MeSH terms: Case Reports

Spondylodiscitis with/without neurologic impairment is a serious infection, predominantly occurring in high-risk patients. Campylobacter fetus caused spondylodiscitis is very rare. Evidence-based therapeutic concepts for lumbar spondylodiscitis are lacking. A 64-year-old high-risk woman underwent decompression with instrumented lumbar fusion. Six months after index surgery, she developed pyelonephritis, which deteriorated to sepsis and presentation of cauda equina syndrome. She underwent urgent revision with decompression, debridement, and instrumentation removal, and received long-term antibiotics. Culture grew Campylobacter fetus, previously not reported as a cause of spondylodiscitis after elective instrumented lumbar fusion. Emergent debridement and removal of instrumentation, with 2 months of targeted intravenous antibiotics followed by 6 weeks of oral antibiotics led to complete spondylodiscitis resolution. Prompt diagnostics and targeted antibiotic treatment are paramount when dealing with spinal infections, particularly in patients with rare causative pathogens like Campylobacter fetus. Concomitant neurological complications may require emergent surgical management in the case of cauda equina syndrome.
Case Report: Novel splicing mutations in RFX5 causing MHC class II deficiency
Authors: Shan Chen, Yuqing Xu, Yeqing Qian, Zhaohui Li, Minyue Dong
Journal: Front Genet (2022)
Keywords: dna-binding domain, mhc-ii deficiency, rfx5, splicing mutation, whole exome sequencing
MeSH terms: Case Reports

Mutations of the Regulatory Factor X5 (RFX5) have been associated with the autosomal recessive major histocompatibility class II (MHC-II) deficiency, which is a severe immunodeficiency characterized by constitutive and interferon-gamma induced MHC II expression disorder and leads to the absence of cellular and humoral T-cell response to antigen challenge. The compound heterozygous splicing mutations of RFX5: c.353 + 6T>G (maternally inherited) and c.757 + 1G>A (paternally inherited) were identified in an infant diagnosed severe immunodeficiency. The mutation c.757 + 1G>A was classified as likely pathogenic while c.353 + 6T>G was classified as the variant of uncertain significance according to American College of Medical Genetics and Genomics (ACMG). To investigate the pathogenicity of RFX5: c.353 + 6T>G, reverse transcription PCR (RT-PCR) was conducted with the mother's peripheral blood. An insertion of 191-bp intronic sequence (intron 6) was found in the transcripts, and this resulted in a frameshift and premature truncation of the protein, especially reduced the DNA-binding domain (DBD) of the RFX5 protein. Our data expanded the spectrum of pathogenic mutations in MHC-II deficiency and put new insights into the genetic counseling, prenatal diagnosis and preimplantation genetic testing (PGT) for the disease.
Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures
Authors: Raffaele Falsaperla, Xena Giada Pappalardo, Catia Romano, Simona Domenica Marino, Giovanni Corsello, Martino Ruggieri, Enrico Parano, Piero Pavone
Journal: Front Pediatr (2020)
Keywords: cntnap2 gene, conduct disorder (cd), epilepsy, intellectual disability (id), intronic copy number variant

Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CNTNAP2 gene has also been suggested to have a causative role in individuals with a wide phenotypic spectrum, including Pitt-Hopkins syndrome, cortical dysplasia-focal epilepsy syndrome, Tourette syndrome, language dysfunction, and abnormal behavioral manifestations. Case presentation: A 10-years-old boy was referred to the hospital with mild intellectual disability and language impairment. Moreover, the child exhibited minor facial features, epileptic seizures, and notable behavioral abnormalities including impulsivity, aggressivity, and hyperactivity suggestive of the diagnosis of disruptive, impulse-control and conduct disorder (CD). Array comparative genomic hybridization (CGH) revealed a copy number variant (CNV) deletion in the first intron of CNTNAP2 gene inherited from a healthy father. Conclusions: A comprehensive description of the phenotypic features of the child is provided, revealing a distinct and remarkable alteration of social behavior not previously reported in individuals affected by disorders related to CNTNAP2 gene disruptions. A possible causative link between the deletion of a non-coding regulatory region and the symptoms presented by the boy has been advanced.
Case report: Rare epithelioid hemangioendothelioma occurs in both main bronchus and lung
Authors: Jiuyu Gong, Fangfang Tian, Qin Wang, Mi Mu, Sijia Geng, Pengfei Hao, Pengfei Zhong, Rui Zhang, Lin Jiang, Rentao Wang, Pengtao Bao
Journal: Front Med (Lausanne) (2022)
Keywords: pole (p286r) mutation, bronchoscopic, case report, genetic analysis, pulmonary epithelioid hemangioendothelioma
MeSH terms: Case Reports

Pulmonary epithelioid hemangioendothelioma (PEH) is a rare vascular tumor of endothelial origin with low- to intermediate-grade malignant potentials. Since there is no characteristic clinical or biological marker available for PEH, most cases require a surgical lung biopsy for diagnosis. To date, although some patients with PEH reported in the literature were diagnosed through bronchoscopic biopsy, most of the patients still underwent surgical lung biopsy for confirmation. In this case report, we present a rare case diagnosed as PEH through endobronchial biopsies due to the presence of an intraluminal mass that blocked the trachea and caused atelectasis in the right upper lobe. Moreover, since surgery was not appropriate for this patient with unresectable bilateral multiple nodules, we adopted genetic analysis using NGS to provide a guide for personalized treatment. Then, based on the NGS results, the patient was treated with anti-PD-1 mAb and sirolimus for 1 year and has been stable in a 1-year follow-up examination.
A Case Report of Severe Coagulopathy in Antenatal COVID-19
Authors: Anna Sand, Roza Chaireti, Maria Sennström, Karin Pettersson, Maria Magnusson
Journal: Case Rep Obstet Gynecol (2022)
MeSH terms: Case Reports

Pregnancy is a naturally occurring hypercoagulable state, and COVID-19 can cause profound changes in the coagulation system associated with thromboinflammation. We report a case of a pregnant woman with moderate symptoms of COVID-19 and a severe coagulopathy with unexpected low levels of fibrinogen and factor VIII as well as atypical thrombelastometry results. She developed a severe placental dysfunction with intrauterine fetal distress and perinatal death. The case did not fulfil the criteria for preeclampsia or sepsis, and the adverse outcome was assessed as a direct effect of the COVID-19 infection with placental insufficiency, despite absence of serious maternal pulmonary symptoms. Atypical persistent coagulopathy may serve as an important marker of a serious obstetrical situation in COVID-19.
Gouty tophi in the penis: a case report and review of the literature
Authors: José Francisco Flores Martín, Fernando Vázquez Alonso, Ignacio Puche Sanz, Raquel Berrio Campos, Miguel Angel Campaña Gutierrez, José Manuel Cózar Olmo
Journal: Case Rep Urol (2012)

Gout is a metabolic disease characterized by hyperuricemia and the deposition of monosodium urate crystals in different anatomical locations. We report the case of a 61-year-old man who received consultation for gouty tophi in the penis, which is an unusual location for this type of pathology, that was resolved with the surgical removal of the tophi. We provide a review on gout and its treatment as well as other locations where atypical gouty tophi have been described.
A Case of Large Perianal Mucinous Adenocarcinoma Arising from Recurrent Abscess and Complex Fistulae
Authors: Fahmi Pramaditto Azmi, Nur Afdzillah Abdul Rahman, Luqman Mazlan, Normala Basiron, Farrah-Hani Imran
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Mucinous adenocarcinoma of the perianal region is an oncologic rarity posing a diagnostic and therapeutic dilemma for treating oncologists. This is due to the low number of reported cases, compounded by the lack of definitive therapeutic guidelines. It accounts for 2% to 3% of all gastrointestinal malignancies and is historically known to arise from chronic anal fistulas and ischiorectal or perianal abscesses. We hereby report an interesting case of perianal mucinous adenocarcinoma in a 66-year-old male initially treated for a horseshoe abscess with complex fistulae. He presented with a 6-month history of a discharging growth in perianal region and painful defecation associated with occasional blood mixed stools. An incisional biopsy from the ulcer revealed mucinous adenocarcinoma. Contrast-enhanced computed tomography (CT) scan and magnetic resonance imaging (MRI) scan showed a localized perianal growth which involves the internal and external sphincter as well as suspicious involvement in the posterior aspect of the levator ani/puborectalis sling, which was further confirmed with colonoscopy (see figures). With no preset treatment protocol for this rare entity, he was managed with an abdominoperineal resection (APR) and vertical rectus abdominis myocutaneous flap (VRAM) tissue reconstruction. He had a turbulent postoperative period including intestinal obstruction secondary to internal herniation of bowel resulting in flap failure. The subsequent perineal wound was managed conservatively with advanced wound care and has since completely healed.
Case report: primary osteonecrosis associated with thrombophilia-hypofibrinolysis and worsened by testosterone therapy
Authors: Michael Ian Jarman, Kevin Lee, Ariel Kanevsky, Sarah Min, Ilana Schlam, Chris Mahida, Ali Huda, Alexander Milgrom, Naila Goldenberg, Charles J Glueck, Ping Wang
Journal: BMC Hematol (2017)
Keywords: anticoagulation, hypofibrinolysis, osteonecrosis, testosterone, thrombophilia
MeSH terms: Case Reports

Background:
Familial and acquired thrombophilia are often etiologic for idiopathic hip and jaw osteonecrosis (ON), and testosterone therapy (TT) can interact with thrombophilia, worsening ON.
Case presentation:
Case 1: A 62-year-old Caucasian male (previous deep venous thrombosis), on warfarin 1 year for atrial fibrillation (AF), had non-specific right hip-abdominal pain for 2 years. CT scan revealed bilateral femoral head ON without collapse. Coagulation studies revealed Factor V Leiden (FVL) heterozygosity, 4G/4G plasminogen activator inhibitor (PAI) homozygosity, high anti-cardiolipin (ACLA) IgM antibodies, and endothelial nitric oxide (NO) synthase (eNOS) T786C homozygosity (reduced conversion of L-arginine to NO, required for bone health). Apixaban 5 mg twice daily was substituted for warfarin; and L-arginine 9 g/day was started to increase NO. On Apixaban for 8 months, he became asymptomatic. Case 2: A 32-year-old hypogonadal Caucasian male had 10 years of unexplained tooth loss, progressing to primary jaw ON with cavitation 8 months after starting TT gel 50 mg/day. Coagulation studies revealed FVL heterozygosity, PAI 4G/4G homozygosity, and the lupus anticoagulant. TT was discontinued. Jaw pain was sharply reduced within 2 months.
Conclusions:
Idiopathic ON, often caused by thrombophilia-hypofibrinolysis, is worsened by TT, and its progression may be slowed or stopped by discontinuation of TT and, thereafter, anticoagulation. Recognition of thrombophilia-hypofibrinolysis before joint collapse facilitates anticoagulation which may stop ON, preserving joints.
Cyclic Cushing's Disease in the Prepubertal Period-A Case Report and Review of Literature
Authors: Anna Wȩdrychowicz, Barbara Hull, Anna Kalicka-Kasperczyk, Grzegorz Zieliński, Jerzy B Starzyk
Journal: Front Endocrinol (Lausanne) (2019)
Keywords: cushing's disease, cushing's syndrome, cyclicity, hypercortisolemia, prepubertal age
MeSH terms: Case Reports

Background: Cyclic Cushing's disease (CD) has been described in about 15% of adult patients with CD. In the pediatric population, diagnosis of CD is rare and cyclic presentations of the disease are not adequately understood or described. Moreover, prepubertal patients usually do not present with the typical signs and symptoms of CD, which can obscure or delay diagnosis. In this paper, we report a case of cyclic CD in a prepubertal age girls whose etiology was a pituitary corticotropinoma. Case presentation: A Caucasian 7.8 year old girl was admitted to pediatric endocrinology for the evaluation of short stature and prior obesity. The patient remained overweight despite significant lifestyle modifications, resulting in 6 kg weight loss during the prior 6 months. The physical exam was notable for precocious adrenarche and thelarche, but difficult to differentiate from steatomastia. Hypothalamo-pituitary-adrenal axis diagnostics, including single diurnal excretion of urinary cortisol, morning ACTH, and serum cortisol levels, were all within normal limits, and MRI of the pituitary gland showed no deviations at this time. Because of the clinical suspicion of cyclic hypercortisolemia, she was referred to our outpatient clinic for follow-up. After 6 months, the patient returned with rapid weight gain, accompanied by nocturnal anxiety, exacerbation of depressive behavior, insomnia and excessive sweating, and was readmitted to the ward for testing. Standard diagnostics confirmed CD and repeat MRI at 8.6 years old showed a microadenoma of 3 × 4 mm in the right side of the anterior pituitary gland. Histopathologic examination described an atypical, densely-granulated pituitary corticotroph adenoma with Ki-67 expression above 3%. Conclusion: Cyclic presentations of CD in the prepubescent age group could cause difficulties in diagnosis because of atypical signs and symptoms, which can be absent in the remission phase. Decreases in height percentiles and velocities obtained from the growth chart, as well as fluctuations in weight, and signs of androgenization can allow the clinician to suspect cycling CD in prepubertal patients. Confirmation of cyclic CD diagnosis is only possible during periods of relapse (hypercortisolemic state) and should be investigated according to the current diagnostic standard.
Community-acquired urinary tract infections caused by Burkholderiacepacia complex in patients with no underlying risk factor
Authors: Laila Nimri, Mamuno Sulaiman, Osama Bani Hani
Journal: JMM Case Rep (2017)
Keywords: burkholderia cepacia, antimicrobial susceptibility pattern, community-acquired, urinary tract infections
MeSH terms: Case Reports

Introduction. Urinary tract infections (UTIs) remain common infections diagnosed in outpatients as well as hospitalized patients. Community-acquired UTIs are generally caused by Escherichia coli and other members of the family Enterobacteriaceae.Burkholderiacepacia is an opportunistic pathogen mainly affecting immunocompromised and hospitalized patients, particularly those who have received prior broad-spectrum antibacterial therapy. Case presentation. Urine samples were collected from 157 outpatients clinically diagnosed with UTI and from 100 healthy control subjects. Samples were cultured on differential media and non-motile lactose-non-fermentors were identified via the Remel RapID ONE system. The isolates were tested by the disc diffusion method against 17 antimicrobial agents. Burkholderia was isolated as a single organism from four patients having uncomplicated infections, and one from recurrent infection. None of these patients had an underlying risk factor for this pathogen. Identification of these isolates by the Remel-RapID ONE system was confirmed by recA gene amplification. The four isolates were resistant to lincomycin, nalidixic acid, oxacillin and penicillin G. These cases received monotherapy of oral co-trimoxazole. Conclusions. Our findings alert urologists and diagnostic laboratories to the potential of B.cepacia complex infections in similar cases, and that this bacterium should not be ruled out.