OpenMed/multicare-articles huggingface dataset:
Basal cell carcinoma of the penis: a case report and review of the literature
Authors: R J Roewe, Matthew A Uhlman, Nathan A Bockholt, Amit Gupta
Journal: Case Rep Urol (2014)

Basal cell carcinoma of the penis is an extremely rare entity, accounting for less than 0.03% of all basal cell carcinomas. Fortunately, wide local excision of such lesions is generally curative. Fewer than 25 cases have been reported in the literature describing penile basal cell carcinoma. Here we report a case of penile basal cell carcinoma cured with wide local excision.
Case report: From monkeypox pharyngitis to myopericarditis and atypical skin lesions
Authors: María Ascensión Sanromán Guerrero, Elena Hernández Sánchez, Belén de Nicolás Ruanes, Pablo Fernández-González, Sonia Antoñana Ugalde, Alejandra González Leal, Marcelo Sanmartín Fernández, Jose Javier Alarcón Rodríguez, Laura Martinez Garcia, Rosa Escudero, Maria Ángeles Fernández Méndez, Jose Luis Zamorano Gómez, Beatriz Montero Llorente, Maria Jesús Vivancos-Gallego
Journal: Front Cardiovasc Med (2023)
Keywords: lake louise criteria, monkeypox, myocarditis, pericarditis, plasma, tecovirimat
MeSH terms: Case Reports

Background:
A global outbreak of the human monkeypox virus (HMPXV), first identified in May 2022, was declared a health emergency of international concern on 23 July 2022. Before the global outbreak, monkeypox cases were mostly confined to central and west African countries, where this virus is prevalent. Close contact, mainly sexual contact, is supposed to be the main route of transmission, and it is remarkable that the incidence is higher in men who have sexual relationships with other men.
Case summary:
A 40-year-old Caucasian man arrived at the emergency department complaining of oppressive epigastric pain extending to the chest after a diagnosis of pharyngitis, which was suspected to be caused by the human monkeypox virus. Based on the clinical symptoms, physical examination, serum cardiac biomarkers, and electrocardiographic findings, he was diagnosed with myopericarditis. The real-time PCR for human monkeypox in skin lesions, urine, plasma, and the oropharyngeal swab was positive. The peak of troponin I was 20.6 ng/ml, and the electrocardiogram showed an upward concavity in the ST segment in diffuse leads, which was in agreement with the previous diagnosis. The presence of edema, subepicardial, and myocardial late gadolinium enhancement, and increased values on T1 mapping in the cardiac MRI were in agreement with the diagnosis of myopericarditis. Antiviral treatment with tecovirimat was started with excellent tolerability. After 6 days, the patient recovered and was discharged.
Discussion:
To our knowledge, this is one of the first reported cases of myopericarditis due to human monkeypox infection, which was confirmed by a cardiac MRI following modified Lake Louise criteria. The short span between the onset of the mucocutaneous symptoms and the myocardial damage suggests a pathogenic association. Furthermore, the active viral replication in plasma samples and the negative results on real-time PCR for other viruses support this clinical association.
Ruptured Spinal Arteriovenous Malformation: A Rare Cause of Paraplegia in Pregnancy
Authors: Clare E Thiele
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Background:
Ruptured spinal arteriovenous malformation (AVM) is a rare cause of paraplegia in pregnancy, with only a few case reports describing complications from spinal AVMs during pregnancy in the literature.
Case:
A 32-year-old woman presented at 37 weeks gestation with back pain and rapidly progressive lower limb neurological symptoms. MRI showed a previously undiagnosed spinal AVM at T8. A healthy girl was delivered by caesarean under general anaesthesia to facilitate further investigation. After spinal angiography, it was concluded the most likely aetiology was acute rupture of an intra- and perimedullary AVM with associated haemorrhage at T8 secondary to venous compression from the enlarged uterus at L5 causing high pressure within the AVM and subsequent rupture. The neurosurgical and interventional radiology teams felt the lesion was not amenable to surgical or endovascular intervention. The patient remained paraplegic with no sign of neurological recovery six months after delivery.
Conclusion:
While new onset paraplegia during pregnancy secondary to ruptured spinal AVM is very rare, it is important to discuss these cases to inform future practice. In contrast to previous case reports, our patient did not spontaneously recover after delivery and was not amenable to surgical or endovascular treatment.
Emergent Antidepressant Discontinuation Syndrome Misdiagnosed as Delirium in the ICU
Authors: Peter White, Carl L Faingold
Journal: Case Rep Crit Care (2019)
MeSH terms: Case Reports

We present a case of serious antidepressant discontinuation syndrome (ADDS) in a 72- year-old woman in the intensive care unit (ICU). Although this syndrome may be mild under ambulatory conditions, ICU patients can experience serious neurocognitive symptoms that are difficult to differentiate from delirium. We report delayed recognition of the ADDS in a patient in the ICU who was initially diagnosed with severe hyperactive delirium. Subsequent to hiatal hernia surgery, the patient was admitted to the ICU for aspiration and was intubated. Due to increasing agitation the patient received high doses of dexmedetomidine, fentanyl, midazolam, and propofol. The patient was treated with high doses of a serotonin norepinephrine reuptake inhibitor (SNRI) antidepressant, duloxetine, for 2 years. However, the antidepressant was not effectively administered postsurgically due to gastroparesis. The signs and symptoms of ADDS can occur cryptogenically if they are partially masked by sedating agents. Due to concern for the discontinuation syndrome and the inability to administer duloxetine via a nasogastric tube, another SNRI, venlafaxine, was administered. Venlafaxine administration allowed unexpectedly prompt dose reduction and then total discontinuation of all sedating agents, allowing liberation from mechanical ventilation and ICU discharge. This case illustrates the importance of avoiding antidepressant discontinuation in the ICU.
A Rare SPRY4 Gene Mutation Is Associated With Anosmia and Adult-Onset Isolated Hypogonadotropic Hypogonadism
Authors: Rita Indirli, Biagio Cangiano, Eriselda Profka, Giovanna Mantovani, Luca Persani, Maura Arosio, Marco Bonomi, Emanuele Ferrante
Journal: Front Endocrinol (Lausanne) (2019)
Keywords: kallmann syndrome, spry4, anosmia, central hypogonadism, isolated hypogonadotropic hypogonadism
MeSH terms: Case Reports

Background: Isolated hypogonadotropic hypogonadism (IHH) is a rare, clinically heterogeneous condition, caused by the deficient secretion or action of gonadotropin releasing hormone (GnRH). It can manifest with absent or incomplete sexual maturation, or as infertility at adult-age; in a half of cases, IHH is associated with hypo/anosmia (Kallmann syndrome). Although a growing number of genes are being related to this disease, genetic mutations are currently found only in 40% of IHH patients. Case description: Severe congenital hyposmia was diagnosed in a 25-year-old Caucasian man referred to the Ear-Nose-Throat department of our clinic. The patient had no cryptorchidism or micropenis and experienced a physiological puberty; past medical history and physical examination were unremarkable. Olfactory structures appeared hypoplasic, while hypothalamus, pituitary gland, and stalk were normal on MRI (neuroradiological imaging); testosterone levels, as well as pulsatile gonadotropin secretion and other pituitary hormones were unaffected at the time of first referral. At the age of 48, the patient returned to our clinic for sexual complaints, and the finding of low testosterone levels (6.8 and 5.8 nmol/L on two consecutive assessments) with inappropriately normal gonadotropin levels led to the diagnosis of hypogonadotropic hypogonadism. GnRH test was consistent with hypothalamic origin of the defect. Next generation sequencing was then performed revealing a rare heterozygous allelic variant in SPRY4 gene (c.158G>A, p.R53Q). The biological and clinical effects of this gene variant had never been reported before. A diagnosis of Kallmann syndrome was finally established, and the patient was started on testosterone replacement therapy. Conclusion: This case describes the clinical phenotype associated with a rare SPRY4 gene allelic variant, consisting in congenital severe smell defect and adult-onset IHH; in patients with apparently isolated congenital anosmia genetic analysis can be valuable to guide follow up, since IHH can manifest later in adulthood. Characterization of other modifying genes and acquired environmental factors is needed for a better understanding of the physiopathology and clinical manifestations of this disease.
Pyogenic Spondylodiscitis due to Streptococcus constellatus in an Immunocompromised Male Patient: A Case Report and Review of the Literature
Authors: Charalampos Potsios, Panagiota Xaplanteri, Vasileios Zoitopoulos, Panagiotis Patrinos, Iro Ioanna Giannakopoulou, Ilektra Tzivaki, Theodora Kafentzi, Konstantina Samanta, Konstantina Filioti, Panagiotis Sideris, Konstantinos Letsas, Konstantinos Koukios
Journal: Case Rep Infect Dis (2019)
MeSH terms: Case Reports

Pyogenic spondylodiscitis is a primary infection of the intervertebral disc and is a rare entity. Here, we describe the case of a 64-year-old male patient, a professional breeder, who attended the Emergency Department with sciatica and back pain that was worsening for a week. The patient had no history of surgery or trauma. The patient had poor oral hygiene. Magnetic resonance imaging (MRI) scan showed lumbar spondylodiscitis, and blood cultures revealed Streptococcus constellatus. The patient was initially treated with vancomycin but due to renal failure deterioration, the treatment was changed to daptomycin for 8 weeks. During hospitalization, he endured renal injury and nosocomial respiratory tract infection. The patient was discharged with no further complications. Follow-up revealed improvement of neurological signs. In our case, it seems that poor oral hygiene was the cause of bacteremia, which underlies the importance of a good oral health status in immunocompromised patients not only to prevent but also to successfully eliminate any dental source of infection. S. constellatus is an extremely rare pathogen and to our knowledge only two other cases of pyogenic spondylodiscitis are reported in the literature. Early diagnosis is very important for the prognosis of these patients.
Case report: Hypoadrenocorticism crisis complicated by non-cardiogenic pulmonary edema in a dog
Authors: Mathieu V Paulin, Elisabeth C Snead
Journal: Front Vet Sci (2022)
Keywords: acute lung injury, acute respiratory distress syndrome (ards), addison crisis, adrenal insufficiency, case report, neurogenic pulmonary edema
MeSH terms: Case Reports

A 6-year-old castrated male Labradoodle was referred in uncompensated hypovolemic shock, with a 72-h history of lethargy, vomiting and diarrhea that had acutely worsened with subsequent development of profuse hemorrhagic diarrhea in the last 24 h after a visit to the groomer. In most respects this case was classic for a patient with a primary hypoadrenocortical crisis. After initial attempts to address hypovolemia and refractory hypotension, no clinical improvement was seen, and the respiratory rate had increased acutely to 80 bpm with crackles detected on thoracic auscultation and serosanguineous fluid began draining from the nose and mouth. An arterial blood gas sample while breathing room air revealed moderate hypoxemia (PaO2 59.9: RI 95-100 mmHg), an elevated alveolar-arterial (A-a) gradient at 54.7 (RI < 15 mmHg) and a PaO2:FiO2 ratio of 285 mmHg. Thoracic radiographs revealed severe bilateral alveolar lung pattern largely limited to the perihilar and caudodorsal lung fields. The radiographic findings, along with signs of ongoing hypovolemia, the lack of evidence of typical long-standing acquired cardiac disease, and the rapid resolution of the pulmonary edema without the need for diuretics or long-term cardiac medications supported non-cardiogenic pulmonary edema. The proposed cause of the non-cardiogenic pulmonary edema was speculated to be neurogenically mediated. Oxygen supplementation along with mineralocorticoid and glucocorticoid replacement therapy was sufficient for the management of the non-cardiogenic pulmonary edema in this case.
Rifampicin in Nontuberculous Mycobacterial Infections: Acute Kidney Injury with Hemoglobin Casts
Authors: Rishi Kora, Sergey V Brodsky, Tibor Nadasdy, Dean Agra, Anjali A Satoskar
Journal: Case Rep Nephrol (2018)
MeSH terms: Case Reports

Rifampicin is a key component of multidrug regimens not only for tuberculosis, but also nontuberculous mycobacterial infections (NTM) which are on the rise worldwide. Knowledge of the toxicity profile is important. Hepatotoxicity is a well-known side effect of Rifampicin necessitating regular liver function monitoring during therapy. Acute kidney injury (AKI) is a relatively rare complication, usually resulting from allergic interstitial nephritis (AIN). Rifampicin-induced intravascular hemolysis resulting in hemoglobinuria and AKI is even more uncommon, especially in Western countries with low prevalence of mycobacterial infections. Rifampicin-induced antibodies are implicated and this complication preferentially occurs during intermittent drug treatment protocols or when Rifampicin is restarted after a long drug-free interval. Awareness of this drug complication and its unique timing is important especially among emergency room physicians where patients with AKI may first present. It is equally important for nephrologists and pathologists. We describe one such case with detailed clinical course of the patient and interesting biopsy findings of ATN with intratubular hemoglobin casts.
Extraskeletal Myxoid Chondrosarcoma of the Vulva: A Case Report
Authors: Maya Omote, Hiroshi Tsubamoto, Yoshihiro Ide, Kenichiro Kawai, Hiroyuki Futani, Hiroaki Shibahara
Journal: Cureus (2023)
Keywords: case report, extraskeletal myxoid chondrosarcoma, pazopanib, radiation therapy, vulva
MeSH terms: Case Reports

Extraskeletal myxoid chondrosarcoma (EMC) of the vulva is extremely rare. We report our experience with a case of disease control by radiation therapy to a localized lesion of EMC. A 41-year-old woman presented to our clinic with a vulvar mass. Magnetic resonance imaging showed a 15 cm mass between the perineum and the medial thigh muscle. It was the "adductor magnus muscle." After the needle biopsy, a histopathological diagnosis of EMC was made. Tissue genomic analysis detected the EWSR1-NR4A3 fusion gene. A joint operation by the Department of Orthopedics, Gynecology, and Plastic Surgery was performed, which included a wide excision of the perineum, partial excision of the medial thigh muscle, and rectus abdominis valvuloplasty. Intraoperatively, pubic infiltration was detected. Postoperative pelvic radiotherapy was administered as adjuvant therapy. Recurrent common iliac lymph node metastases outside the irradiation field and multiple lung metastases were observed. Pazopanib was administered as adjuvant therapy. Pulmonary metastases were controlled, but the pelvic tumor had spread, so the patient underwent radiation therapy. After second-line chemotherapy with doxorubicin, left pleural effusion and mediastinal lymph node metastasis appeared, and third-line chemotherapy with eribulin mesylate was administered. The pleural effusion improved, but the patient developed cough again, and trabectedin was administered as the fourth chemotherapy. In this case, there was no local recurrence for three years after radiotherapy, suggesting the effectiveness of radiotherapy in local control.
Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report
Authors: Elizabeth R Kerr, Gary M Stuhlmiller, George C Maha, Mark A Ladd, Fady M Mikhail, Ruth P Koester, Anna C E Hurst
Journal: Mol Cytogenet (2018)
Keywords: chromosome 6, isodisomy, maternal uniparental disomy, paternity testing
MeSH terms: Case Reports

Background:
Uniparental disomy (UPD) is a rare condition in which a child inherits both copies of a chromosome or chromosome segment from one parent. Medical consequences of UPD may include abnormal imprinting, unmasking of genetic disease, and somatic mosaicism; alternatively, the condition may be clinically silent. We present a case of maternal UPD for chromosome 6, a rare condition previously reported less than 20 times. In our patient with a normal phenotype, the condition was discovered through abnormal paternity testing results. Uniparental isodisomy is a rare cause of discordant parentage testing results, but it is an important phenomenon to recognize.
Case presentation:
We present a female born at 32 weeks gestational age with birth weight 10-25%ile when corrected for prematurity. Paternity testing was obtained for legal reasons, and initial results appeared to exclude the alleged father. However, the lab performed additional testing which indicated that the patient was homozygous for maternal alleles for all three tested loci located on chromosome 6. Based on these results, the patient was referred for a medical genetics evaluation for possible maternal uniparental disomy. She presented for her consultation at 10 months of age and appeared to be developing appropriately. Her age-adjusted weight, length, and head circumference were <3%ile, 10%ile, and 25%ile respectively. Chromosomal microarray testing confirmed maternal UPD6. The patient was seen again at 14 months of age, and her weight and length were 10-25%ile. She had not developed concerning symptoms or physical exam findings.
Conclusions:
The presence of UPD, especially in asymptomatic patients, has implications for paternity testing, as standard methods may miss cases of both isodisomy and heterodisomy. This rare inheritance pattern should be considered when discordant paternity results come under suspicion. It is unusual for a parentage testing lab to perform the amount of testing done for this case, but the initial inconsistencies necessitated further investigation. UPD6 has uncertain effects and variable phenotypes, so this patient's genetic abnormality likely would have gone undiscovered if not for the non-medical indication for the laboratory analysis. Her asymptomatic presentation raises the possibility that UPD may be more common than previously estimated.
Type 1 Achilles tendon rupture caused by grooming trauma in a young dog
Authors: M Isaka, M Befu, N Matsubara, M Ishikawa, H Aono, S Namba
Journal: Open Vet J (2014)
Keywords: achilles tendon, dog, rupture
MeSH terms: Case Reports

Achilles tendon rupture is uncommon in small animal practice. A 9-month-old, female, mixed breed dog (weighing 2.2kg) was referred to our hospital with a primary complaint of right hind limb lameness. Complete right Achilles tendon rupture was diagnosed by physical examination and radiography. The tendon was surgically repaired the next day by using a three-loop and single near-far-far-near suture methods. Complete healing was achieved by 97 days post-surgery. This report describes the surgical technique used for complete Achilles tendon rupture repair in a young dog.
Adenosquamous Carcinoma of the Stomach: Report of Two Cases
Authors: Tadashi Terada
Journal: Gastroenterology Res (2009)
Keywords: adenosquamous carcinoma, histopathology, stomach
MeSH terms: Case Reports

The author reports two cases of adenosquamous carcinoma of stomach. The first case is an 87-year-old woman who was admitted to our hospital because of nausea and vomiting. Endoscopy revealed a large type 4 tumor in the stomach, and biopsy showed squamous cell carcinoma. Total gastrectomy, cholecystectomy, splenectomy and lymph node dissection were performed. Pathologically, the gastric tumor consisted of a mixture of adenocarcinoma (30% in area) and squamous cell carcinoma (70% in areas). The adenocarcinoma consisted of signet ring cell carcinoma, poorly differentiated carcinoma, and tubular adenocarcinoma. Carcinoma cells invaded into the serosa. The gall bladder, lymph nodes and peritoneum showed metastases of adenocarcinoma. The patient died of five months after operation. The second case is a granulocyte-colony stimulating factor producing carcinoma. A 77-year-old woman was admitted to our hospital because of epigastralgia. Marked leukocytosis was present without inflammation. Endoscopic examination revealed a large type 3 tumor, and biopsy showed squamous cell carcinoma. Gastrectomy and lymph node dissection was performed. Pathologically the gastric tumor was composed of a mixture of adenocarcinoma (10%) and squamous cell carcinoma (90%). The carcinoma invaded into subserosa. Lymphovascular permeation is present. The adenocarcinoma element consisted of signet ring cell carcinoma. Tumor cells were immunohistochemically positive for granulocyte-colony stimulating factor. The lymph nodes showed metastases of signet ring cell carcinoma. The patient showed systemic metastasis, and died eight months after the operation.
Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report
Authors: Mei Guo, Qinqin Xu, Xuefeng Yu, Qin Yang, Shiying Shao
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: agenesis of the dorsal pancreas, case report, diabetes, diabetes ketoacidosis, hepatocyte nuclear factor 1b
MeSH terms: Congenital Abnormalities / pathology, Hepatocyte Nuclear Factor 1-beta / genetics, Hyperuricemia / pathology, Ketosis / pathology, Kidney Diseases, Cystic / pathology, Liver Diseases / pathology, Mutation, Pancreas / abnormalities, Case Reports, Research Support, Non-U.S. Gov't, Adult, Congenital Abnormalities / genetics, Heterozygote, Humans, Hyperuricemia / complications, Hyperuricemia / genetics, Ketosis / complications, Ketosis / genetics, Kidney Diseases, Cystic / complications, Kidney Diseases, Cystic / genetics, Liver Diseases / complications, Liver Diseases / genetics, Male, Pancreas / pathology, Prognosis, Young Adult, HNF1B protein, human, Hepatocyte Nuclear Factor 1-beta, Pancreas agenesis, dorsal

Background:
Agenesis of the dorsal pancreas (ADP) is a rare disease, the pathogenic mechanism of which is partially related to variants of hepatocyte nuclear factor 1B (HNF1B) gene.
Case presentation:
We report a case of ADP, which presented with acute ketoacidosis, hyperuricemia, and liver dysfunction. In this case, the HNF1B score was estimated as 16 and a heterozygous variant of HNF1B in exon 2 (c.513G>A-p.W171X) was identified through gene sequencing.
Conclusions:
A good understanding of the clinical comorbidities of ADP is essential for avoiding missed diagnosis to a great extent. Moreover, estimation of HNF1B score is recommended before genetic testing.
Management of fetal bronchogenic lung cysts: a case report and short review of literature
Authors: Ulkü Ozmen Bayar, Varîm Numanoğlu, Sibel Bektaş, Hakan Sade, Duygu Tatlî
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Congenital malformations of the lung (CML) are rare with similar embryological and clinical spectra and could result in mortality if left untreated. Bronchogenic cysts are formed during the budding of the tracheal diverticula and ventral foregut in the embryological period. In this paper we want to present a case of bronchogenic cyst with continuous intrauterine cyst aspiration follow-up. After the baby birth was operated and the postoperative period was uneventful. The pathological examination revealed a bronchogenic cyst.