OpenMed/multicare-articles huggingface dataset:
CMV enteritis causing massive intestinal hemorrhage in an elderly patient
Authors: Mihaiela Morunglav, Ivan Theate, Gilles Bertin, Philippe Hantson
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Background. Cytomegalovirus (CMV) disease is rare in previously immunocompetent patients. We report a case of CMV enteritis complicated by massive intestinal bleeding. Case History. A 72-year-old immunocompetent patient was admitted for diarrhea and abdominal pain. Aspecific pattern of duodenitis was found at abdomen computed tomography and on biopsies during endoscopy. A diagnosis of vasculitis was suspected on the basis of the clinical and biological course (skin lesions, arthralgias, proteinuria, low complement C3 and C4 fractions, etc.) and pulse steroid therapy was prescribed. The patient developed multiple episodes of intestinal bleeding with shock and required urgent laparotomy. Jejunitis due to CMV vasculitis was proven by histological examination of the operative specimen. Treatment with ganciclovir was initiated. No bleeding recurrence was noted. No other lesions from CMV infection were observed. The patient died from unrelated complications. Discussion. CMV enteritis is a rare cause of intestinal bleeding particularly in previously immunocompetent patients. Aging could be accompanied by a relative immune weakness and specific antiviral therapy seems to be indicated.
De novo heterozygous pathogenic FBN1 variant in an autopsy case of multiple aneurysms and right renal artery dissection: a case report
Authors: Taylor MacGowan, Taylor McClinchey, Vibhu Parcha, Matteo Vatta, Silvio Litovsky, Pankaj Arora, Paul V Benson
Journal: Front Cardiovasc Med (2023)
Keywords: fbn1, marfan, aneurysm, case report, dissection
MeSH terms: Case Reports

Background:
Marfan syndrome is a potentially fatal inherited autosomal dominant condition impacting the cardiovascular and the skeletal system with an estimated 25% cases caused by sporadic genetic variations. Given the genetic inheritance pattern, an autopsy of probands with Marfan syndrome-associated mortality is critical to establish the phenotypic expression and clinical implications of the particular genetic variant, especially for first-degree relatives. We present the findings of a Marfan syndrome proband decedent presenting with sudden onset abdominal pain and unexplained retroperitoneal abdominal hemorrhage.
Methods:
An autopsy was performed to inform the blood relatives of the phenotypic expression and penetrance of the potentially heritable condition. A clinical laboratory improvement amendment (CLIA)-certified clinical grade genetic sequencing was performed to identify pathogenic variants in genes associated with aortopathy.
Results:
The autopsy showed intra-abdominal and retroperitoneal hemorrhage due to infarction of the right kidney caused by dissection of the right renal artery. Genetic testing identified a heterozygous pathogenic FBN1 gene variant. The specific variant is FBN1 NM_000138.4 c.2953G > A p.(Gly985Arg).
Conclusions:
We report a case of a previously undiagnosed Marfan syndrome death due to a de novo FBN1 variant, c.2953G > A.
Biallelic Mismatch Repair Deficiency in an Adolescent Female
Authors: Amber Hildreth, Mark A Valasek, Irene Thung, Thomas Savides, Mamata Sivagnanam, Sonia Ramamoorthy, Sherry C Huang
Journal: Case Rep Genet (2018)
MeSH terms: Case Reports

Constitutional (Biallelic) Mismatch Repair Deficiency is a rare autosomal recessive disorder characterized by numerous cancers presenting as early as the first decade of life. Biallelic germline variants in one of four mismatch repair genes (MLH1, MSH2, MSH6, or PMS2) cause this devastating disease. Given the rarity of the syndrome, often-asymptomatic tumors, and overlap with neurofibromatosis-1, diagnosis is frequently unrecognized or delayed. We present a unique case of a 14-year-old female with minimal gastrointestinal symptoms diagnosed with invasive adenocarcinoma secondary to biallelic PMS2 variants.
Necessity of Distinguishing Verrucous Carcinoma From Verrucous Skin Lesion Overlaying Residual Skin Staples in an Area of Sensory Loss: A Case Report
Authors: Shunsuke Sakakibara, Takahiro Tokiyoshi, Kazunobu Hashikawa, Hiroto Terashi
Journal: Eplasty (2015)
Keywords: vsldn, diabetic foot, diabetic neuropathy, verrucous carcinoma, verrucous skin lesion
MeSH terms: Case Reports

Objective:
Verrucous skin lesions on the feet in diabetic neuropathy is a condition usually induced by chronic mechanical stimulation of the feet of patients with diabetic neuropathy and usually occurs at weight-bearing sites. We here present a rare case involving a man with verrucous skin lesions on the feet in diabetic neuropathy at an unusual, non-weight-bearing site.
Methods:
A 58-year-old man with diabetic neuropathy presented with a verrucous skin lesion overlaying residual skin staples and an amputation stump of the second metatarsal bone on the dorsal foot.
Results:
The biopsy findings were inconclusive and suggested the necessity of distinguishing the lesion from verrucous carcinoma. The lesion was resected, and the residual skin staples were simultaneously removed. Investigation of the excisional biopsy confirmed our diagnosis of verrucous skin lesions on the feet in diabetic neuropathy.
Conclusions:
Verrucous skin lesions on the feet in diabetic neuropathy is often difficult to distinguish from verrucous carcinoma; in this case, the unusual location of the lesion could be attributed not only to sensory loss but also to the presence of an amputation stump and the persistence of the residual skin staples.
Case Report: Successful Cerebral Revascularization and Cardiac Transplant in a 16-Year-Old Male With Syndromic BRCC3-Related Moyamoya Angiopathy
Authors: Pierrick Pyra, Jean Darcourt, Marion Aubert-Mucca, Pierre Brandicourt, Olivier Patat, Emmanuel Cheuret, Karine Brochard, Annick Sevely, Lionel Calviere, Clément Karsenty
Journal: Front Neurol (2021)
Keywords: brcc3, cardiac transplant, moyamoya angiopathy, revascularization, stroke
MeSH terms: Case Reports

Background: BRCC3/MTCP1 deletions are associated with a rare familial moyamoya angiopathy with extracranial manifestations. Case: We report the case of an adolescent male presenting with progressive and symptomatic moyamoya angiopathy and severe dilated cardiomyopathy caused by a hemizygous deletion of BRCC3/MTCP1. He was treated for renovascular hypertension by left kidney homograft and right nephrectomy in infancy and had other syndromic features, including cryptorchidism, growth hormone deficiency, and facial dysmorphism. Due to worsening of the neurological and cardiac condition, he was treated by a direct superficial temporal artery to middle cerebral artery bypass to enable successful cardiac transplant without cerebral damage. Conclusions: BRCC3-related moyamoya is a devastating disease with severe heart and brain complications. This case shows that aggressive management with cerebral revascularization to allow cardiac transplant is feasible and efficient despite end-stage heart failure.
A Neglected Case of Multifocal Liposarcoma Presented in Five Different Sites in a Syrian Woman: A case report
Authors: Ieman Alawad, Ahmad Al-Haj, Ahmad Ghazal, Amna Ibrahim, Ruqaya Masri
Journal: Int J Surg Case Rep (2019)
Keywords: case report, liposarcoma, multifocal, round cell

Introduction:
Multifocal soft tissue sarcoma is a rare clinical entity occurring in 1 % of patients with extremity soft tissue sarcoma and in 4.5 % of patients with liposarcoma. Multifocal disease may arise either synchronously or metachronously and has been associated with poor prognosis.
Case presentation:
Herein, we report a rare case of a Syrian woman patient with six different foci of liposarcoma in five sites at the time of diagnosis.
Discussion:
Liposarcomas are currently classified into four different subtypes based on histologic or genetic analysis according to the World Health Organization (WHO), including cell-differentiated, dedifferentiated, myxoid, and pleomorphic. In the present work, we report a neglected patient with a multicentric round cell liposarcoma in five different sites.
Conclusion:
Medicine cannot provide much care for these advanced cases of multicentric liposarcoma so far. Therefore, more research should be conducted to improve the ability to manage these entities and to identify potential novel therapies.
Papilliferous keratoameloblastoma: an extremely rare case report
Authors: Neeta Mohanty, Varun Rastogi, Satya Ranjan Misra, Susant Mohanty
Journal: Case Rep Dent (2013)

Odontogenic tumors develop in the jaw bones from the odontogenic tissue-oral epithelium in tooth germ, enamel organ, dental papilla, reduced enamel epithelium, remnants of Hertwig's root sheath or dental lamina, and so forth. Hence, a bewildering variety of tumors are encountered in the maxilla and mandible. Ameloblastoma is the second most common odontogenic neoplasm after odontomes, and it has numerous clinical and histologic variants. We report a very rare histologic variant: the papilliferous keratoameloblastoma which is the fifth reported case in the English literature.
Effect of prolonged discontinuation of L-thyroxine replacement in a child with congenital hypothyroidism
Authors: Rita Ann Kubicky, Evan Weiner, Bronwyn Carlson, Francesco De Luca
Journal: Case Rep Endocrinol (2012)
MeSH terms: Case Reports

When diagnosed through neonatal screening and treated promptly and adequately, infants with congenital hypothyroidism (CH) experience normal physical growth and neurological development. Here we present a 3-year-old boy diagnosed with CH as a newborn, who was subsequently left untreated and experienced significant growth failure and developmental delay. This case emphasizes the importance of a consistent adherence to treatment in preventing such complications, especially in infancy and early childhood.
Portal Vein Thrombosis: A Rare Finding in a Noncirrhotic Patient
Authors: Aswini Kumar Sahoo, Sudhasmita Rauta, Subash Chandra Mohapatra
Journal: Euroasian J Hepatogastroenterol (2014)
Keywords: abdominal pain, hyperhomocysteinemia, portal vein thrombosis
MeSH terms: Case Reports

Portal vein thrombosis (PVT) is a rare cause of abdominal pain, typically associated with cirrhosis or thrombophilia. A 18-year-old female presented with abdominal pain for 10 weeks. The diagnosis was confirmed with contrast-enhanced computed tomography (CECT) abdomen after an ultrasound showed dilated and obstructed portal vein. This unexpected finding prompted investigation for intrinsic hepatic disease and potential hypercoagulable disorders. Laboratory analysis revealed an elevated serum homocysteine level, an identified risk factor for venous thrombosis. Current literature describes the following factors as indications for anticoagulation: acute thrombus, lack of cavernous transformation, absence of esophageal varices and mesenteric venous thrombosis. PVT is an uncommon cause of abdominal pain, and in the absence of hepatic disease should raise the index of suspicion for an underlying thrombophilia. How to cite this article: Sahoo AK, Rauta S, Mohapatra SC. Portal Vein Thrombosis: A Rare Finding in a Noncirrhotic Patient. Euroasian J Hepato-Gastroenterol 2014;4(1):55-57.
Case report: A case of perinodal atrial tachycardia and review of the relevant clinical anatomy surrounding the retroaortic node
Authors: Anvi Raina, Nicholas Y Tan, Olubadewa A Fatunde, Samuel J Asirvatham, Christopher V DeSimone
Journal: Front Cardiovasc Med (2023)
Keywords: catheter ablation, electrophysiology study, perinodal atrial tachycardia, retroaortic node, supraventricular tachycardia (svt)
MeSH terms: Case Reports

A 70-year-old female presented with incessant supraventricular tachycardia that was refractory to metoprolol and sotalol. ECG revealed a narrow complex tachycardia with a rate of 163 beats per minute with a short RP relationship. She had salvos of atrial tachycardia which led to a severe reduction in ejection fraction as noted on echocardiography and hemodynamic instability. An electrophysiological study was performed, and findings suggested this to be an atrial tachycardia with earliest activation in the perinodal area. Radiofrequency ablation was carried out along the septum and associated structures to surround this region including the right atrium, non-coronary sinus of Valsalva, and the left atrium (anterior wall outside of the right superior pulmonary vein) to isolate this area and surround the focus with ablation lesions. The patient has done well post-procedure and continues to do well without any recurrence on low-dose flecainide at 8 months.
Fractal analysis of elastographic images for automatic detection of diffuse diseases of salivary glands: preliminary results
Authors: Alexandru Florin Badea, Monica Lupsor Platon, Maria Crisan, Carlo Cattani, Iulia Badea, Gaetano Pierro, Gianpaolo Sannino, Grigore Baciut
Journal: Comput Math Methods Med (2013)
MeSH terms: Diagnosis, Computer-Assisted / methods, Elasticity Imaging Techniques / methods, Image Interpretation, Computer-Assisted / methods, Salivary Gland Diseases / diagnostic imaging, Case Reports, Computational Biology, Diagnosis, Computer-Assisted / statistics & numerical data, Elasticity Imaging Techniques / statistics & numerical data, Female, Fractals, Humans, Middle Aged, Sialadenitis / diagnostic imaging, Submandibular Gland Diseases / diagnostic imaging

The geometry of some medical images of tissues, obtained by elastography and ultrasonography, is characterized in terms of complexity parameters such as the fractal dimension (FD). It is well known that in any image there are very subtle details that are not easily detectable by the human eye. However, in many cases like medical imaging diagnosis, these details are very important since they might contain some hidden information about the possible existence of certain pathological lesions like tissue degeneration, inflammation, or tumors. Therefore, an automatic method of analysis could be an expedient tool for physicians to give a faultless diagnosis. The fractal analysis is of great importance in relation to a quantitative evaluation of "real-time" elastography, a procedure considered to be operator dependent in the current clinical practice. Mathematical analysis reveals significant discrepancies among normal and pathological image patterns. The main objective of our work is to demonstrate the clinical utility of this procedure on an ultrasound image corresponding to a submandibular diffuse pathology.
Synchronously diagnosed eosinophilic granuloma and Hodgkin's disease in a 12-year-old boy: a case report
Authors: Soheila Sarmadi, Amir B Heidari, Amir H Sina, Mohammad A Ehsani
Journal: J Med Case Rep (2009)

Introduction:
Synchronous composite tumors are uncommon. Simultaneous, rather than metachronous or consecutive, occurrences of eosinophilic granuloma and Hodgkin's lymphoma in children are very rare. This is the first report of this kind in the medical literature.
Case presentation:
We report the case of a 12-year-old Iranian boy with eosinophilic granuloma localized in his leg around the knee and Hodgkin's lymphoma in a cervical lymph node. The two tumours occurred synchronously before the patient had received any treatment.
Conclusion:
Several cases of an association between eosinophilic granuloma and lymphoproliferative disorder have been reported. Some of these cases involve Hodgkin's lymphoma and Langerhans cell histiocytosis occurring in the same patient. Genetic or environmental etiologies have been postulated for eosinophilic granulomas which occur following Hodgkin's lymphomas, but have as yet not been proven. To our knowledge, synchronous occurrence of these two malignant processes in a patient who has not received any prior treatment is rare in children.
Tracheoesophageal Fistula in a COVID-19 Ventilated Patient: A Challenging Therapeutic Decision
Authors: Riccardo Rosati, Paola De Nardi, Antonio Dell'Acqua, Maria Rosa Calvi, Ugo Elmore, Elena Scarparo, Luigi Beretta
Journal: Case Rep Surg (2021)
MeSH terms: Case Reports

COVID-19 associated severe respiratory failure frequently requires admission to an intensive care unit, tracheal intubation, and mechanical ventilation. Among the risks of prolonged mechanical ventilation under these conditions, there is the development of tracheoesophageal fistula. We describe a case of a severe COVID-19 associated respiratory failure, who developed a tracheoesophageal fistula. We hypothesized that one of the mechanisms for tracheoesophageal fistula, along with other local and general risk factors, is the local infection due to the location of the virus itself in the tracheobronchial tree. The patient was managed successfully with surgical intervention. This case highlights the increased risk of this potentially life-threatening complication among the COVID-19 patient cohort and suggests a management strategy.
Failure to diagnose phaeochromocytoma preoperatively: a case report and review of diagnostic criteria
Authors: Ileana Antonopoulou, Mark Heining
Journal: Case Rep Anesthesiol (2011)
MeSH terms: Case Reports

We present a case in which phaeochromocytoma was not diagnosed preoperatively despite extensive investigation. There was significant haemodynamic instability during surgery. We review current diagnostic criteria with a view to reducing such a risk in future.
Avulsion Fracture of the Anterior Superior Iliac Spine in a Young Athlete Detected by Point-Of-Care Ultrasound
Authors: Takaaki Mori, Takateru Ihara, Osamu Nomura
Journal: POCUS J (2022)
Keywords: avulsion fracture, child, pelvic fracture, ultrasonography
MeSH terms: Case Reports

Pelvic avulsion fractures (PAFs) are common in adolescents. X-ray is commonly used to diagnose PAF, but the use of point-of-care ultrasound (POCUS) for this purpose in pediatric emergency departments has yet to be published. We reported herein a pediatric case of anterior superior iliac spine (ASIS) avulsion fracture detected by POCUS. A 14-year-old male patient visited our emergency department for groin pain he experienced during a game of baseball. POCUS of the right ilium demonstrated a hyperechoic structure anterolaterally displaced towards the ASIS, suggesting an ASIS avulsion fracture. X-ray of the pelvis confirmed the findings and led to the diagnosis of ASIS avulsion fracture.
A case of Brunner's gland adenoma mimicking tumors induced from head of the pancreas
Authors: Hasan Bostanci, Kursat Dikmen, Ozgur Ekinci, Cagrι Buyukkasap, Mustafa Kerem
Journal: Pan Afr Med J (2018)
Keywords: brunner gland adenoma, mimicing, pancreatic head tumour
MeSH terms: Adenoma / diagnosis, Brunner Glands / pathology, Duodenal Neoplasms / diagnosis, Pancreatic Neoplasms / diagnosis, Case Reports, Adenoma / pathology, Adenoma / surgery, Brunner Glands / surgery, Duodenal Neoplasms / pathology, Duodenal Neoplasms / surgery, Humans, Male, Middle Aged, Pancreaticoduodenectomy / methods, Tomography, X-Ray Computed

Brunner's Gland Adenoma is a very rarely seen benign tumor of duodenum. While it generally leads to obstruction and bleeding complaints, it may very rarely occur by mimicking a pancreatic tumor. A 48 years old male patient admitted to the gastroenterology clinic due to the epigastric pain spreading dorsally. No significant feature is present in his clinical history. A lesion containing cystic solid components in the size of 30x40 mm was detected in the head of pancreas as a result of the abdominal tomography. In the light of these findings, pancreaticoduodenectomy is applied to the patient. It is observed that tumor is in submucosal location and widely invaded the pancreatic head. In the histopathological examination, Brunner's Gland Adenoma is reported in pancreatic head localization. In this manuscript a case of Brunner's gland adenoma diagnosed by performing pancreaticoduodenectomy due to the mass in the head of the pancreas is presented.
Epithelioid sarcoma of the forearm arising from perineural sheath of median nerve mimicking carpal tunnel syndrome
Authors: Hiromasa Fujii, Kanya Honoki, Hiroshi Yajima, Akira Kido, Yasunori Kobata, Daisuke Kaji, Yoshinori Takakura
Journal: Sarcoma (2009)
MeSH terms: Case Reports

We report here a case of epithelioid sarcoma in the forearm of a 33-year-old male presenting with symptoms and signs of carpal tunnel syndrome originating from the direct involvement of the median nerve. Due to the slow growing of the tumor, the patient noticed the presence of tumor mass in his forearm after several months from the initial onset of the symptoms. Magnetic resonance imaging showed an 8 x 4 cm mass involving the median nerve in the middle part of the forearm, and histological analysis of the biopsy specimen revealed the diagnosis of epithelioid sarcoma. Radical surgical resection was performed in conjunction with adjuvant chemotherapy. The function of the flexors were restored by the multiple tendon transfers (EIP --> FDS; ECRL --> FDP; BrR --> FPL; EDM --> opponens) with superficial cutaneous branch of radial nerve transfer to the resected median nerve. The function of the affected hand showed excellent with the DASH disability/symptom score of 22.5, and both the grasp power and sensory of the median nerve area has recovered up to 50% of the normal side. The patient returned to his original vocation and alive with continuous disease free at 3.5-year follow-up since initial treatment.
A case series of emphysematous pyelonephritis
Authors: Camelia Arsene, Abhijit Saste, Shankar Arul, Janee Mestrovich, Revark Kammo, Mohammed Elbashir, Gregory Berger
Journal: Case Rep Med (2014)

Introduction. Emphysematous pyelonephritis (EPN) is an uncommon infection characterized by gas in the renal parenchyma and surrounding tissues. It is rapidly progressive, requiring appropriate therapy to salvage the infected kidney. Case Description. The case series presents 5 patients with a clinical and radiologic diagnosis of EPN. Each patient had a unique predisposing factor for developing EPN. Early goal directed therapy with intravenous fluids and antibiotics was given. This was followed by less invasive urologic interventions in an attempt to avoid nephrectomy and thereby salvage the infected kidney. All five patients were discharged in clinically stable conditions. Discussion and Conclusion. This case series provides added practice based support to available literature for managing EPN. Early goal directed medical therapy for sepsis coupled with interventional urologic procedures is a valuable alternative to circumvent an upfront emergent nephrectomy, except in cases where a fulminant infection may be present at the time of admission or develop later on in the course of the patients illness despite conservative line of therapy. It also highlights the importance of considering a diagnosis of EPN in patients with urinary infections, who have certain common predisposing factors listed in our case series.