OpenMed/multicare-articles huggingface dataset:
Intrahepatic Biliary Cystadenoma With Colonic Adenomatous Polyps in a Patient With Chronic Hepatitis B: A Case Report and Literature Review
Authors: Yan Tang, Chenyu Wang, Shunjun Fu, Ting Li, Guolin He
Journal: Front Med (Lausanne) (2021)
Keywords: biliary cystadenoma, chronic hepatitis b, colon adenomatous polyps, cystic liver disease, intraductal papillary neoplasms of the bile duct, liver
MeSH terms: Case Reports

Background: Biliary cystadenomas are rare cystic tumors of the bile duct system that are mostly benign but also have the possibility of malignant transformation. Biliary cystadenomas mostly occur in the intrahepatic bile ducts and are more common in middle-aged women. Due to non-specific radiology, preoperative diagnosis is difficult and is usually performed by postoperative pathology. Complete resection is the best treatment option, and the postoperative prognosis is good. Case Description: This study reports a case of a patient with biliary cystadenoma who was diagnosed with simultaneous chronic hepatitis B and colon (hepatic flexure) adenomatous polyps. The patient presented to the doctor because of abdominal pain, and a blood test showed hepatitis B. Computed tomography revealed both right liver and colonic lesions. Colonoscopy revealed polyps, and the postoperative pathological diagnosis was adenomatous polyps. Laparoscopic resection of the right liver tumor was performed, and it was diagnosed as hepatobiliary cystadenoma by postoperative pathological analysis combined with immunohistochemistry. Conclusion: In patients with chronic hepatitis, the shape of biliary cystadenoma may not be very typical, and it is necessary to combine this with immunohistochemistry for diagnosis. When multiple lesions are detected in the painful area, the diagnosis of each lesion and its treatment sequence are worthy of consideration. Under normal circumstances, the prognosis of biliary cystadenoma is good; however, in patients with chronic hepatitis B, more cases need to be observed for verification.
Hemophagocytic Lymphohistiocytosis Associated with Salmonella typhi Infection in a Child: A Case Report with Review of Literature
Authors: Juanita Uribe-Londono, Lina Maria Castano-Jaramillo, Laura Penagos-Tascon, Andrea Restrepo-Gouzy, Andres-Felipe Escobar-Gonzalez
Journal: Case Rep Pediatr (2018)
MeSH terms: Case Reports

We present the case of an 8-year-old girl with hemophagocytic lymphohistiocytosis secondary to a Salmonella typhi infection. She received antibiotic treatment and intravenous immunoglobulin with complete resolution of the symptoms. We present a review of previously reported pediatric cases and propose a gradual approach to treatment.
Large choroidal melanoma presenting as neovascular glaucoma
Authors: Sabin Sahu, Tshering Wangchuk Bhutia, Varun Shrestha, Sanjay Kumar Singh, Lila Raj Puri
Journal: GMS Ophthalmol Cases (2019)
Keywords: choroidal melanoma, iris neovascularisation, neovascular glaucoma
MeSH terms: Case Reports

Choroidal melanoma is a relatively rare tumour with a poor prognosis, though it is the most common primary malignancy of the eye among adults. Choroidal melanoma has been reported to present as acute angle closure glaucoma, secondary glaucoma, chronic uveitis, cataract, and staphyloma. We report a case of a28-year-old male presenting with features of neovascular glaucoma in the right eye and having initially been treated with anti-glaucoma medications. However, ultrasonography revealed a mushroom-shaped, elevated, solid lesion with low to moderate internal reflectivity and regular internal structure suggestive of choroidal melanoma. Histopathological examination along with the immunohistochemistry studies of the lesion following enucleation of the eye confirmed the diagnosis of malignant choroidal melanoma. We highlight with this case that large choroidal melanoma may rarely present with features of neovascular glaucoma. The etiology of neovascular glaucoma should be investigated carefully and a potentially life-threatening intraocular tumour should be excluded, although it is a rare presentation.
The Use of 68Ga-DOTATATE PET/CT in the Non-invasive Diagnosis of Optic Nerve Sheath Meningioma: A Case Report
Authors: Karine A Al Feghali, Debra N Yeboa, Beth Chasen, Maria K Gule, Jason M Johnson, Caroline Chung
Journal: Front Oncol (2018)
Keywords: 68ga-dotatate pet/ct, meningioma, optic nerve sheath meningioma, orbital neoplasms, positron-emission tomography and computed tomography, somatostatin (analogs and derivatives)
MeSH terms: Case Reports

We hereby report the case of a patient with optic nerve sheath meningioma (ONSM), whose diagnosis and multidisciplinary management was guided by the use of Gallium-68 (68Ga)-labeled dodecanetetraacetic acid-tyrosine-3-octreotate (DOTATATE) positron emission tomography (PET)/computed tomography (CT) scan. We briefly review the diagnosis and management of ONSM, and review the literature on the role and current status of nuclear imaging with somatostatin receptor ligands in the non-invasive diagnosis and management of meningiomas.
Case Report: Reinterpretation and Reclassification of ARSB:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene
Authors: Nahid Al Dhahouri, Amanat Ali, Jozef Hertecant, Fatma Al-Jasmi
Journal: Front Pediatr (2022)
Keywords: cdh23, arylsulfatase b, glycosaminoglycans, non-syndromic hearing loss, whole exome sequencing
MeSH terms: Case Reports

Arylsulfatase B is an enzyme present in the lysosomes that involves in the breakdown of large sugar molecules known as glycosaminoglycans (GAGs). Arylsulfatase B chemically modifies two GAGs, namely, dermatan sulfate and chondroitin sulfate, by removing the sulfate group. Mutations in the gene encoding the arylsulfataseB enzyme causes lysosomal storage disorder, mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome. In this study, we report a case of congenital hearing loss with mild pigmentary changes in the retina, indicative of Usher syndrome, and a missense variant reported as likely pathogenic for MPS VI. Sequencing results identified a pathogenic missense variant p.Arg1746Gln in the CDH23 gene. However, another missense variant ARSB:p.Arg159Cys was reported as likely pathogenic to the treating physician. Mutations in ARSB gene have been associated with MPS VI. Subsequently, ARSB enzyme activity was found low twice in dried blood spot (DBS), suggestive of MPS VI. The patient did not have the clinical features of MPS VI, but considering the wide clinical spectrum, progressive nature of MPS VI, and the fact that a treatment for MPS VI is available to prevent disease progression, further biochemical, enzymatic, and in silico studies were performed to confirm the pathogenicity of this variant. In silico tools predicted this variant to be pathogenic. However, the results of urine and serum GAGs and ARSB enzyme levels measured from patient's fibroblast were found normal. Based on clinical and biochemical findings, ARSB:p.Arg159Cys is likely benign and did not support the diagnosis of MPS VI. However, CDH23:p.Arg1746Gln, a pathogenic variant, supports the underlying cause of hearing loss. This study highlights the importance of a robust correlation between genetic results and clinical presentation, and biochemical and enzymatic studies, to achieve a differential diagnosis.
Achalasia in Pregnancy: Botulinum Toxin A Injection of Lower Esophageal Sphincter
Authors: Nicole Hooft, Emily S Schmidt, Ross M Bremner
Journal: Case Rep Surg (2015)

Background. Achalasia, a rare esophageal motility disorder that may cause malnutrition during pregnancy, can result in fetal and maternal morbidity and mortality. Many medical treatment regimens are contraindicated or not tolerated during pregnancy, and surgery is generally avoided due to potential risks to the fetus. Case Report. Severe, medically refractory achalasia in a 23-year-old pregnant woman that caused malnutrition was successfully managed by administering a botulinum toxin A injection to the lower esophageal sphincter. The injection was performed at approximately 14 weeks' gestation and the patient reported clinically significant relief from dysphagia. She gained weight and ultimately delivered a healthy baby girl at term, but her symptoms returned a few months postpartum. She underwent a second treatment of botulinum toxin A injection, but it offered only one month of relief. Roughly eight months after delivery, the patient underwent a laparoscopic extended Heller myotomy and Dor fundoplication. The patient resumed a normal diet one week postoperatively, and her baby has had no complications. Conclusion. This is only the second reported case of botulinum toxin A injection being used to treat achalasia in pregnancy. This treatment proved to be a safe temporary alternative without the risks of surgery and anesthesia during pregnancy.
COVID-19 and Guillain-Barre Syndrome: a systematic review of case reports
Authors: Rodrigo M Carrillo-Larco, Carlos Altez-Fernandez, Sabrina Ravaglia, Joaquín A Vizcarra
Journal: Wellcome Open Res (2020)
Keywords: covid-19, guillain-barre syndrome, neurological complications, pandemic
MeSH terms: Systematic Review

Background: Guillain-Barre Syndrome (GBS) is a neurological autoimmune disease that can lead to respiratory failure and death. Whether COVID-19 patients are at high risk of GBS is unknown. Through a systematic review of case reports, we aimed to summarize the main features of patients with GBS and COVID-19. Methods: Without any restrictions, we searched MEDLINE, Embase, Global Health, Scopus, Web of Science and MedXriv (April 23 rd, 2020). Two reviewers screened and studied titles, abstracts and reports. We extracted information to characterize sociodemographic variables, clinical presentation, laboratory results, treatments and outcomes. Results: Eight reports (n=12 patients) of GBS and COVID-19 were identified; one was a Miller Fisher case. The age ranged between 23 and 77 years, and there were more men (9/102). GBS symptoms started between 5 and 24 days after those of COVID-19. The protein levels in cerebrospinal fluid samples ranged between 40 and 193 mg/dl. None of the cerebrospinal fluid samples tested positive for COVID-19. Six patients debuted with ascendant weakness and three with facial weakness. Five patients had favourable evolution, four remained with relevant symptoms or required critical care and one died; the Miller Fisher case had successful resolution. Conclusions: GBS is emerging as a disease that may appear in COVID-19 patients. Although limited, preliminary evidence appears to suggest that GBS occurs after COVID-19 onset. Practitioners and investigators should have GBS in mind as they look after COVID-19 patients and conduct research on novel aspects of COVID-19. Comparison with GBS patients in the context of another viral outbreak (Zika), revealed similarities and differences that deserves further scrutiny and epidemiological studies.
Refractory Ileal Perforations in a Cytomegalovirus-Infected Premature Neonate Resolved After Ganciclovir Therapy
Authors: Mari Morimoto, Hirofumi Sawada, Noriko Yodoya, Hiroyuki Ohashi, Kuniaki Toriyabe, Ryo Hanaki, Katsumi Sugiura, Hidemi Toyoda, Kohei Matsushita, Yuhki Koike, Kohei Otake, Mikihiro Inoue, Keiichi Uchida, Hiroshi Imai, Yoshihide Mitani, Kazuo Maruyama, Yoshihiro Komada, Tomoaki Ikeda, Masahiro Hirayama
Journal: Front Pediatr (2020)
Keywords: congenital viral infection, cytomegalovirus, ganciclovir, gastrointestinal perforation, necrotizing enterocolitis, pathological examination, premature neonate, spontaneous intestinal perforation
MeSH terms: Case Reports

Severe neonatal gastrointestinal diseases such as necrotizing enterocolitis or spontaneous intestinal perforation are potentially lethal conditions which predominantly occur in preterm infants. Cytomegalovirus (CMV), which is known to cause congenital and acquired infections in the newborns, has also been implicated in such severe gastrointestinal diseases in premature infants. However, the pathogenic role of CMV and effect of antiviral therapy in severe gastrointestinal disease in premature neonates is currently unclear. We present an infant, born at 26-weeks' gestation, presented with progressive dyspepsia and abdominal distention after the closure of the symptomatic patent ductus arteriosus at the day of life (DOL) 4, requiring the emergent surgery for ileal perforation at the DOL8. After the surgery, abdominal symptoms persisted and the second emergent surgery was performed for the recurrent ileal perforation at DOL17. Even then the abdominal symptoms prolonged and pathological examination in the affected intestine at the second surgery showed CMV inclusion body. Immunoreactivity for CMV antigen was detected in the specimen at the first surgery on DOL8. Blood and urinary CMV-DNA were detected at DOL28. CMV-DNA was also detected in the dried umbilical cord which was obtained within a week from birth. A 6-week course of intravenous ganciclovir (12 mg/kg/day) was started at DOL34 and then symptoms resolved along with decreasing blood CMV-DNA. Pathological findings characteristic of CMV were not detected in the resection specimen at the ileostomy closure at DOL94. These observations indicate that anti-CMV therapy may be beneficial for some premature infants with severe CMV-associated gastrointestinal diseases and warrants further studies focusing on pathogenic role, diagnosis, treatment and prevention of this underrecognized etiology of severe gastrointestinal diseases particularly in premature neonates.
Hematoma of the psoas muscle, in prostatic cancer patient: a case report
Authors: Ziyad Almushayti
Journal: Pan Afr Med J (2015)
Keywords: hematoma, ascites, prostatic cancer
MeSH terms: Hematoma / pathology, Prostatic Neoplasms / complications, Psoas Muscles / pathology, Case Reports, Blood Coagulation Disorders / etiology, Blood Coagulation Disorders / pathology, Hematoma / etiology, Humans, Male, Middle Aged, Tomography, X-Ray Computed

We report a case of 64-year-old male with prostate cancer and coagulation disorder presented with abdominal distension. He underwent abdomen and pelvis ultrasound for assessment of ascites, which showed localized fluid collections identified at the left and right iliac fossa. After that, non enhanced abdomen and pelvis CT scan was performed and showed heterogeneous organized collections identified along the psoas muscles bilaterally, causing focal contour bulge representing haematoma.
Rare involvement of paranasal sinuses in sarcoidosis: case report and literature review
Authors: Afnan Rajeh, Andreas Albers, Annett Pudszuhn, Veit Maria Hofmann
Journal: Pan Afr Med J (2019)
Keywords: sarcoidosis, paranasal sarcoidosis, sinonasal involvement, treatment of sarcoidosis
MeSH terms: Paranasal Sinus Diseases / diagnostic imaging, Sarcoidosis / diagnostic imaging, Sinusitis / diagnostic imaging, Case Reports, Review, Adult, Chronic Disease, Endoscopy / methods, Female, Follow-Up Studies, Humans, Paranasal Sinus Diseases / surgery, Sarcoidosis / surgery, Tomography, X-Ray Computed

Sarcoidosis is a non-caseating inflammatory chronic systemic disease of unknown etiology, which may affect one or more organs. Paranasal sinuses involvement occurs sporadic in sarcoidosis. We report a patient with a medical history of sarcoidosis involving her lungs, liver, and lymphatic system for four years who now presented with nasal and sinuses symptoms. The primary treatment with local cortisone showed no improvement. Computed tomography (CT) scan of the paranasal sinuses (PNS) revealed signs of chronic pansinusitis. She was successfully treated with endoscopic sinonasal surgery. Subsequent histological analysis confirmed the involvement of the PNS with sarcoidosis. Her follow-up during the last 6 months was without recurrence.
Septic Shock Immediately following Percutaneous Suprapubic Catheterization
Authors: Cale E Leeson, Brianna-Lee Beaudry, Geoffrey R Wignall
Journal: Case Rep Urol (2021)
MeSH terms: Case Reports

Suprapubic catheterization (SPC) is considered a safe and effective procedure for long-term bladder decompression. With proper technique and appropriate patient selection, significant complications of SPC are rare. Immediate postoperative septic shock (i.e., within the first 24 hours of surgery) is rarely reported. We report a case of an 83-year-old patient who developed septic shock within one hour of suprapubic catheterization for a chronic hypotonic bladder, highlighting the importance of early recognition of complications from SPC and prompt management to ensure positive outcomes.
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population
Authors: Menglin Wang, Hao Wang, Haiying Zhao, Ling Li, Min Liu, Fujia Liu, Fansen Meng, Caini Fan
Journal: Clin Hypertens (2019)
Keywords: 17α-hydroxylase deficiency, cyp17a1, congenital adrenal hyperplasia, gene mutation, hypertension
MeSH terms: Case Reports

Background:
17α-hydroxylase deficiency is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene. The major clinical presentation includes hypertension, hypokalemia, male pseudohermaphroditism and female gonadal dysplasia. Hundreds of pathogenic variants have been reported in this disorder, and some common mutations were found to be race-specific.
Case presentation:
In this study, we reported 5 Chinese girls with 17α-hydroxylase deficiency from Henan Province. The patients all came to the hospital for hypertension, and they also presented with sexual infantilism. The average age of the patients was 14 years old, ranging from 12 to 17 years old. They all had reduced blood cortisol, estradiol (E2), and testosterone (TESTO) and increased adrenocorticotropic hormone (ACTH), follicle-stimulating hormone (FSH), and luteinizing hormone (LH). They all had the appearance of females; however, three of the chromosome karyotypes were 46XX, and two were 46XY.
Conclusions:
All of the patients carried a mutation on the 329 amino acid of CYP17A1 exon 6. By summarizing the currently known pathogenic mutations of 17α-hydroxylase deficiency, we demonstrated the prevalence of these gene mutations in Chinese Han and non-Chinese populations.
The hazards of lack of co-registration of ictal brain SPECT with MRI: A case report of sinusitis mimicking a brainstem seizure focus
Authors: Tracy Butler, Lawrence J Hirsch, Jan Claassen
Journal: BMC Nucl Med (2004)

BACKGROUND: Single photon emission computed tomography (SPECT) following injection of radiotracer during a seizure is known as ictal SPECT. Comparison of an ictal SPECT study to a baseline or interictal study can aid identification of a seizure focus. CASE PRESENTATION: A young woman with encephalitis and refractory seizures underwent brain SPECT during a period of frequent seizure-like episodes, and during a seizure-free period. A focal area of increased radiotracer uptake present only when she was experiencing frequent seizure-like episodes was originally localized to the brainstem, but with later computerized co-registration of SPECT to MRI, was found to lie outside the brain, in the region of the sphenoid sinus. CONCLUSION: Low-resolution SPECT images present difficulties in interpretation, which can be overcome through co-registration to higher-resolution structural images.
Cervical, Thoracic, and Lumbar Spine Epidural Abscess: Case Report and Literature Review
Authors: Bohdan Baralo, Mrunal Kulkarni, Rithikaa Ellangovan, Robert Selko, Ajinkya Kulkarni, Shambo Guha Roy, Mark Gilbert
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

We report a case of a spinal epidural abscess (SEA) in a patient without significant risk factors. The patient was treated in an outpatient setting for one week for worsening back pain and subsequently admitted to the hospital for the treatment of sepsis and suspected SEA. An MRI obtained on admission showed an epidural abscess extending from the lower cervical to the upper lumbar region and accompanying paraspinal cervical and psoas abscesses. The patient was successfully treated with antibiotics based on the sensitivity of the surgical cultures received from a needle aspiration of the abscess. SEA has a low incidence; however, the number of cases is consistently rising over the last two decades. The outcome of SEA treatment is related to the duration of the process prior to intuition of the treatment. Patients with no neurological symptoms, or with symptoms lasting less than 36 h, have the best recovery rate. As the typical symptoms of SEA are seen in only 13% of cases, physicians should have a low threshold to order MRI in patients with back pain that is new or changed from the baseline. With the help of CT-guided aspiration for culture analysis, patients can be successfully treated conservatively using antibiotics in cases where neurological signs are absent.
Development of Arthritis as the Initial Involvement in Adult-Onset Cutaneous Polyarteritis Nodosa: Two Cases and Literature Review
Authors: Ryota Takamatsu, Yasuhiro Shimojima, Dai Kishida, Yasufumi Kondo, Ken-Ichi Ueno, Yoshiki Sekijima
Journal: Case Rep Rheumatol (2020)
MeSH terms: Case Reports

Articular symptoms are commonly present in polyarteritis nodosa (PAN). Meanwhile, they may occur as the initial and main involvement of PAN, raising a concern of a delay in a definitive diagnosis of disease unless the histological evidence is obtained. Herein, we report two cases of cutaneous PAN (c-PAN) in which arthritis developed as the initial clinical episode of disease and we argued, through a review of the literature, the clinical feature of patients presenting with arthritis as the initial symptom of PAN. To our knowledge, only six cases have been reported in the English literature, and all six patients were categorized as having c-PAN. Of those patients, four had arthritis with indicating destructive changes. A median of 9 years elapsed prior to the induction of immunosuppressive treatment despite the fact that the other reviewed cases as well as our two patients, who received treatment significantly earlier, showed no evidence of joint destruction. Taken together, this report suggests that the early induction of therapy based on the definitive diagnosis of PAN may be required for preventing joint disruption even though it is not easy to make a diagnosis of PAN unless biopsied tissue can provide the evidence of necrotizing vasculitis.