OpenMed/multicare-articles huggingface dataset:
Cross-fused renal ectopia associated with vesicoureteral reflux; a case report
Authors: Mitra Naseri
Journal: J Renal Inj Prev (2016)
Keywords: complications, cross-fused renal ectopia, renal ectopia, urinary obstruction, vesicoureteral reflux
MeSH terms: Case Reports

Crossed renal ectopia is a rare urinary system anomaly which mostly is asymptomatic and is diagnosed incidentally. Urinary obstruction, infection, and neoplasia of the urinary system and nephrolithiasis are main complications of this anomaly. A 6-year-old boy admitted to the hospital with colicky abdominal pain and nausea. Abdominal examination revealed tenderness in right lower quadrant. Urine analysis and culture were normal. Kidney ultrasonography showed right kidney in pelvis cavity with no kidney tissue in left side. TC 99-DMSA scan demonstrated no radiotracer accumulation in the normal renal area. Radiotracer accumulation was seen in the pelvis area with a deviation to the left. Voiding cystoureterogram revealed right sided grade II vesicoureteral reflux. Severe urological anomalies in children may be asymptomatic or have nonspecific symptoms such as abdominal pain.
A Primary Adrenal Epithelioid Angiomyolipoma (PEComa) in a Patient with Tuberous Sclerosis Complex: Report of a Case and Review of the Literature
Authors: Nancy Torres Luna, Jorge Esteban Mosquera, Isin Yagmur Comba, Mustafa Kinaan, Jorge Otoya
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

Epithelioid angiomyolipomas (EAMLs) are mesenchymal tumors that are part of the family of the perivascular epithelioid cell neoplasms (PEComas). These tumors portray a potential aggressive behavior with metastatic lesions found in around 30% of reported cases. EAMLs might present sporadically or in association with the tuberous sclerosis complex (TSC). They typically involve the kidneys, liver, and lungs. It is extremely rare for these tumors to arise from other organs. The present report describes an unusual case of an adult patient with a history of TSC who developed EAML of the adrenal gland. Moreover, he presented with metastatic disease to the liver, a feature rarely described. The diagnosis of EAMLs can be challenging as they are hard to distinguish from other adrenal or renal tumors without a thorough histopathologic and immunohistochemical evaluation. Due to the potential aggressive behavior of these malignancies, timely diagnosis is extremely important and has significant therapeutic and prognostic implications.
Palliative Radiation Therapy without Chemotherapy for a Patient with Monomorphic Epitheliotropic Intestinal T Cell Lymphoma: A Case Report
Authors: Takeaki Kusada, Takuro Ariga, Kaori Kina, Yohei Okubo, Masaya Kiyuna, Tsutomu Kadekaru, Takeshi Tomiyama, Hisashi Kamiya, Masaki Gibo, Akihiro Nishie
Journal: Palliat Med Rep (2022)
Keywords: eatl, meitl, rt, radiation therapy, radiotherapy
MeSH terms: Case Reports

Monomorphic epitheliotropic intestinal T cell lymphoma (MEITL), which used to be known as type 2 enteropathy-associated T cell lymphoma, is a rare lymphoma and is generally treated with chemotherapy. However, the MEITL prognosis is poor, and intestinal lymphoma including MEITL has the risk of bowel perforation not only at presentation but also during chemotherapy. A 67-year-old man was diagnosed with MEITL after presenting in our emergency room with bowel perforation. He and his family did not opt for the administration of anticancer drugs because of the risk of bowel perforation. However, they wanted the patient to receive palliative radiation therapy without chemotherapy. This treatment shrunk the tumor size without causing severe complications or decline in the quality of life, until he accidentally died due to traumatic intracranial hematoma. Considering the potential efficacy and safety of this treatment, it should be studied in more patients with MEITL.
The Place of Reductive Surgery in the Management of Gestational Ulcerative Gigantomastia: A Case Report at Sourô Sanou Teaching Hospital
Authors: Somé Ollo Roland, Zaré Cyprien, Konkobo Damien, Dembélé Adama, Konségré Valentin, Yabré Nassirou, Bambara Moussa
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Introduction:
Gestational gigantomastia is a rare benign disease of unknown cause. We report a case of bilateral gigantomastia in pregnancy in order to locate the place of reductive surgery in its care which is quite controversial.
Case:
A 25-year-old woman gravida 2 para 1 was referred for an exaggerated bilateral breast enlargement at 32-week gestation. The examination showed bilateral giant breasts with collateral venous circulation and trophic changes marked by the necrosis of the distal third of the mammary skin involving the nipple-areolar complex. She underwent a biopsy of the ulcerative breast tissue, and the histology report did not show a malignant cell. After active foetal lung maturation and induced delivery, a breast reductive surgery with nipple plasty was performed 21 days postpartum. The postoperative course was marked by a period of lymphangitis. The cosmetic and psychological result was satisfactory at 6 months and at 18 months.
Conclusion:
Gestational gigantomastia is a benign disease that can simulate carcinomatous mastitis. The breast reductive plasty keeps its place in our context.
Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up
Authors: Hillevi Lindelöf, Eva Horemuzova, Ulrika Voss, Ann Nordgren, Giedre Grigelioniene, Anna Hammarsjö
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: lmx1b, case report, inversion, nail-patella syndrome, next generation sequencing, skeletal dysplasia
MeSH terms: Nail-Patella Syndrome / diagnosis, Nail-Patella Syndrome / genetics, Case Reports, Research Support, Non-U.S. Gov't, Follow-Up Studies, Humans, LIM-Homeodomain Proteins / genetics, Sweden, Transcription Factors / genetics, LIM-Homeodomain Proteins, Transcription Factors

Nail-patella syndrome (NPS, OMIM #161200) is a rare autosomal dominant disorder with symptoms from many different parts of the body, including nails, knees, elbows, pelvis, kidneys and eyes. It is caused by truncating variants in the LMX1B gene, which encodes a transcription factor with important roles during embryonic development, including dorsoventral patterning of the limbs. To our knowledge, inversions disrupting the LMX1B gene have not been reported. Here, we report a family with an inversion disrupting the LMX1B gene in five affected family members with mild but variable clinical features of NPS. Our finding demonstrates that genomic rearrangements must be considered a possible cause of NPS.
Right gastroepiploic artery as an alternative for arterial reconstruction in living donor liver transplantation
Authors: Klaus Steinbrück, Reinaldo Fernandes, Marcelo Enne, Rafael Vasconcelos, Giuliano Bento, Gustavo Stoduto, Thomas Auel, Lúcio Filgueiras Pacheco-Moreira
Journal: Case Reports Hepatol (2014)

Background. An adequate blood flow is directly related to graft survival in living donor liver transplantation. However, in some cases, unfavorable conditions prevent the use of the hepatic artery for arterial reconstruction. Herein, we report a case in which the recipient right gastroepiploic artery was used as an option for arterial reconstruction in adult-to-adult living donor liver transplantation. Case Report. A 62-year-old woman, with cirrhosis due to hepatitis B associated with hepatocellular carcinoma, was submitted to living donor liver transplantation. During surgery, thrombosis of the hepatic artery with intimal dissection until the celiac trunk was observed, which precluded its use in arterial reconstruction. We decided to use the right gastroepiploic artery for arterial revascularization of the liver graft. Despite the discrepancy in size between donor hepatic artery and recipient right gastroepiploic artery, anastomosis was performed successfully. Conclusions. The use of the right gastroepiploic artery as an alternative for arterial revascularization of the liver graft in living donor liver transplantation should always be considered when the hepatic artery of the recipient cannot be used. For performing this type of procedure, familiarity with microsurgical techniques by the surgical team is necessary.
Psychogenic polydipsia: the result, or cause of, deteriorating psychotic symptoms? A case report of the consequences of water intoxication
Authors: Melissa Gill, MacDara McCauley
Journal: Case Rep Psychiatry (2015)

Water intoxication is a rare condition characterised by overconsumption of water. It can occur in athletes engaging in endurance sports, users of MDMA (ecstasy), and patients receiving total parenteral nutrition. This case outlines water intoxication in a patient with psychogenic polydipsia. When the kidney's capacity to compensate for exaggerated water intake is exceeded, hypotonic hyperhydration results. Consequences can involve headaches, behavioural changes, muscular weakness, twitching, vomiting, confusion, irritability, drowsiness, and seizures. Cerebral oedema can lead to brain damage and eventual death. In this case, psychogenic polydipsia led to significant hyponatraemia, cerebral oedema, and tonic-clonic seizures. Differential diagnoses for hyponatraemia are outlined. The aetiology of psychogenic polydipsia is uncertain, but postulated hypotheses are explored. Psychogenic polydipsia occurs in up 20% of psychiatric patients and this case serves to remind us to be cognizant of water overconsumption.
Prolonged Response of a Patient with Relapsed Acute Myeloid Leukemia to a Novel Oral Bromodomain Extraterminal Inhibitor (BETi)
Authors: Meilen Chang Muñoz, Jennifer A Murphy, Johannes E Wolff, Brian A Jonas
Journal: Case Rep Hematol (2020)
MeSH terms: Case Reports

Acute myeloid leukemia (AML) is an aggressive clonal bone marrow cancer characterized by high rates of relapse and mortality. A middle-aged woman with AML relapsed twice after achieving complete remission with induction therapy and subsequent salvage therapy. She was then enrolled in a clinical trial with the bromodomain extraterminal inhibitor (BETi) mivebresib and achieved complete remission with incomplete count recovery (CRi) with monotherapy. Subsequently, she relapsed and was transitioned to combination therapy with mivebresib plus venetoclax and achieved CR again. The patient required eltrombopag to decrease platelet dependence in both arms of the trial and exhibited less myelosuppression with the combination therapy. The exceptional response to mivebresib demonstrated by this patient underscores the therapeutic potential of mivebresib.
Multimodal magnetic resonance imaging analysis in the characteristics of Wilson's disease: A case report and literature review
Authors: Yun Wang, Zejin Jia, Yuelei Lyu, Qian Dong, Shujuan Li, Wenli Hu
Journal: Open Life Sci (2021)
Keywords: wilson’s disease, arterial spin labeling, copper, multimodal mri, susceptibility-weighted imaging
MeSH terms: Case Reports

Wilson's disease (WD) is an inherited disorder of copper metabolism. Multimodal magnetic resonance imaging (MRI) has been reported to provide evidence of the extent and severity of brain lesions. However, there are few studies related to the diagnosis of WD with multimodal MRI. Here, we reported a WD patient who was subjected to Sanger sequencing, conventional MRI, and multimodal MRI examinations, including susceptibility-weighted imaging (SWI) and arterial spin labeling (ASL). Sanger sequencing demonstrated two pathogenic mutations in exon 8 of the ATP7B gene. Slit-lamp examination revealed the presence of Kayser-Fleischer rings in both eyes, as well as low serum ceruloplasmin and high 24-h urinary copper excretion on admission. Although the substantia nigra, red nucleus, and lenticular nucleus on T1-weighted imaging and T2-weighted imaging were normal, SWI and ASL showed hypointensities in these regions. Besides, decreased cerebral blood flow was found in the lenticular nucleus and the head of caudate nucleus. The patient recovered well after 1 year and 9 months of follow-up, with only a Unified Wilson Disease Rating Scale score of 1 for neurological symptom. Brain multimodal MRI provided a thorough insight into the WD, which might make up for the deficiency of conventional MRI.
Posterior interosseous nerve palsy caused by parosteal lipoma: a case report
Authors: Hatem Salama, Pradeep Kumar, Salah Bastawrous
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

An 83-year-old woman presented with weakness in her right-hand and wrist extensors and swelling in the proximal part of the right forearm. Electromyography (EMG) confirmed involvement of posterior interosseous nerve at the level of proximal forearm. MR imaging demonstrated the characteristics of lipoma which extended on the anterolateral aspect of the right forearm and at the level of the radius neck. The lesion was parosteal lipoma causing compression and paralysis of the posterior interosseous nerve without sensory deficit. In this paper, posterior interosseous nerve palsy due to compression of a parosteal lipoma recovered after excision of the lipoma followed by intensive rehabilitation for six month. Surgical excision should be performed to ensure optimal recovery from the nerve paralysis.
Isolated fetal ascites secondary to persistent urogenital sinus
Authors: D Camanni, A Zaccara, M L Capitanucci, G Mosiello, I Capolupo, B D Iacobelli, M De Gennaro
Journal: Obstet Gynecol Int (2009)
MeSH terms: Case Reports

Objective. To present a case of isolated ascites secondary due to urogenital abnormalities (urogenital sinus) without any other prenatal ultrasound marker. Method. A 36-year-old woman with prenatal isolated ascites delivered a female baby, weighing 2.285 g; ascites was drained at birth and the baby underwent several episodes of urinary retention prior to undergoing X-ray investigations. Results. A voiding cystourethrogram revealed a short urogenital sinus: a vesicostomy was performed. A vaginoscopy revealed double vagina with a large posterior vagina. A posterior sagittal anorectal pull-through with genitoplasty was performed at 2 years old with 1-year follow-up. Conclusions. Though rare, a urogenital abnormality is to be suspected in fetal ascites cases with negative viral tests and no cardiac anomalies. The most common ultrasound marker of such abnormalities (fluid filled cavity) may be missing because of complete drainage of urine through the tubes into peritoneum.
Case report: Reversible encephalopathy caused by dyskinesia-hyperpyrexia syndrome
Authors: Bohan Luo, Hainan Zhang, Lixia Qin
Journal: Front Neurol (2023)
Keywords: mri findings, parkinson's disease, dyskinesia-hyperpyrexia syndrome, emergency, reversible encephalopathy
MeSH terms: Case Reports

Parkinson's disease (PD) is a common neurodegenerative disorder. Some patients with advanced-stage disease are accompanied by emergencies and critical issues such as dyskinesia-hyperpyrexia syndrome (DHS), parkinsonism-hyperpyrexia syndrome (PHS), and serotonin syndrome (SS). In this study, we report a patient with reversible encephalopathy caused by DHS who presented with an acute onset of fidgetiness, dyskinesia, and hyperpyrexia after antiparkinsonian drug abuse. In the present case, brain magnetic resonance imaging (MRI) showed multiple abnormal signals in the cortex and subcortex of the bilateral parietal and occipital lobes that resolved within weeks, which coincided with the characteristic MRI findings in posterior reversible encephalopathy (PRES). Our report expands on the neuroimaging features of DHS and highlights the importance of early identification, diagnosis, and treatment to improve patient prognosis.
Case report: An unusual case of phrenic nerve stimulation in a patient with single chamber implantable cardioverter defibrillator
Authors: Carlo De Innocentiis, Pasquale Astore, Angela Buonpane, Antonia Pia Santamaria, Francesco Patragnoni, Matteo Santamaria
Journal: Front Cardiovasc Med (2023)
Keywords: cardiac implantable electronic devices, cardiac resynchronization therapy, case report, implantable cardioverter defibrillator, phrenic nerve stimulation
MeSH terms: Case Reports

Background:
Phrenic nerve stimulation is a well-recognized complication related to cardiac implantable electronic devices, in particular with left ventricular coronary sinus pacing leads for cardiac resynchronization therapy.
Case presentation:
We report an unusual case of symptomatic phrenic nerve stimulation due to inadvertent placement of a right ventricular defibrillation lead in coronary sinus posterior branch in a patient with heart failure with reduced ejection fraction with a recently implanted single-chamber cardioverter defibrillator.
Discussion:
Phrenic nerve stimulation is a relatively common complication of left ventricular pacing. Inadvertent placement of a right ventricular lead in a coronary sinus branch is a rare but possible cause of phrenic nerve stimulation. Careful evaluation of intraprocedural fluoroscopic and electrocardiographic appearance of pacing and defibrillation leads during implantation may prevent inadvertent placement of a right ventricular lead in the coronary sinus.
Nodular fasciitis of the orbit: a case report and brief review of the literature
Authors: John E Riffle, Andrea H Prosser, Jeffery R Lee, Julie J Lynn
Journal: Case Rep Ophthalmol Med (2011)
MeSH terms: Case Reports

Nodular fasciitis is a benign, reactive, fibroblastic proliferation in which nodules most commonly develop in the subcutaneous or superficial fascia of the extremities. The occurrence of these growths in the orbital region is relatively rare. Our intent is to report another orbital case of this benign fibroproliferative tumor and to provide a brief review of the pertinent medical literature. The salient pathologic features of nodular fasciitis are summarized. The potential for the misdiagnosis of these benign mesenchymal tumors as a malignant sarcomatous neoplasm is discussed. It is important for ophthalmologists to be aware of this pathologic entity and its pseudosarcomatous appearance.
A giant jejunal gastrointestinal stromal tumor misconceived as pancreatic cystic neoplasm: A case report
Authors: Kitti Wongta, Vorapatu Tangsirapat, Vichack Chakrapan Na Ayudhya, Papot Charutragulchai, Singha Sripreechapattana, Kobkool Chakrapan Na Ayudhya, Rapol Poolsavatkitikool, Paiboon Sookpotarom, Paisarn Vejchapipat
Journal: Int J Surg Case Rep (2019)
Keywords: case report, gists, jejunum, pancreatic tumor

Introduction:
Gastrointestinal stromal tumors (GISTs), although not common in gastrointestinal (GI) tumors, constitute the most frequent mesenchymal tumors of the GI tract. This report describes a patient with a large sporadic GIST at proximal jejunum that mimicked the pancreatic cystic neoplasm.
Case presentation:
We report a 59-year-old female patient with unexplained weight loss and palpable left upper quadrant abdominal mass for 6 months. Computed tomography (CT) scan demonstrated a heterogeneously mass measuring 10 cm in a maximal diameter at pancreatic body and tail. Laparotomy was done, and the tumor was found at proximal jejunum closed to the ligament of Treitz, so en bloc resection of the tumor was done. The pathological and immunohistochemical study confirmed GISTs.
Discussion:
Although most GISTs are originated from the intestine, they frequently arise from the stomach, the duodenum and rarely from the jejunum. And jejunal GISTs are usually asymptomatic. The misdiagnosis as mucinous cystadenoma of this case might be due to the proximity of the tumor to the body and tail of pancreas, and compressing the adjacent organ due to its large size.
Conclusion:
GISTs are most frequently small and arising from the stomach. GISTs are rarely present as a large tumor of the jejunum, and particularly mimicked a pancreatic tumor.
Hematologic manifestations of coronavirus disease 2019 in children: Case-series report and a review
Authors: Grace Onimoe, Juan Alvarado, Anita Boakye
Journal: Front Pediatr (2022)
Keywords: covid-19, case series, children, hematologic, manifestations
MeSH terms: Case Reports

On 11 March 2020, coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus (SARS-CoV-2) was declared as a pandemic by the World Health Organization (WHO). As the COVID-19 pandemic has ravaged worldwide, children have not been unaffected. Information gleaned from adult experience with the disease has aided in disease detection and treatment strategies in children. Numerous cases have been described in adult literature about hematologic manifestations of COVID-19. This case series aims to report several hematologic presentations in patients with COVID-19 and multisystem inflammatory syndrome in children (MIS-C, an immune-mediated reaction leading to severe COVID-19 illness) with and without a primary hematologic disorder.
Urgent splenectomy after partial splenic embolization in liver-transplanted patient: a case report
Authors: Jorge Herrador Benito, M G Zunzarren, T Pozancos de Simón, L Tortolero, R Latorre Fragua, J Nuño, E Lobo
Journal: Case Rep Transplant (2012)

We describe a 51-year-old-male. Three months after liver transplantation due to hepatitis C virus (HCV) hepatopathy, an HCV relapse was detected, and partial splenic embolization (PSE) was performed prior to antiviral treatment. Eleven days after PSE emergency splenectomy was performed due to the development of a splenic abscess, which is a rare but severe complication of PSE. Between May 2002 and March 2012, 18 PSEs have been performed in transplant patients in our centre. The patient presented here is the only case of splenic abscess and the only one who has needed surgery after complications of PSE.
Vascular changes on fluorescein angiography of premature infants with low risk of retinopathy of prematurity after high oxygen exposure
Authors: Maria Ana Martinez-Castellanos, Raul Velez-Montoya, Kenneth Price, Andree Henaine-Berra, Gerardo García-Aguirre, Virgilio Morales-Canton, Linda Alejandra Cernichiaro-Espinosa
Journal: Int J Retina Vitreous (2017)
Keywords: angiography, oxygen, retinopathy of prematurity, toxicity, vasculogenesis

Purpose:
To describe a wide array of peripheral vascular changes using fluorescein angiography in preterm neonates, without high risk characteristics for developing retinopathy of prematurity, that were exposed to high oxygen concentration.
Methods:
Retrospective, two center, case series. Newborns at two different hospitals with ≥1500 g or gestational age of ≥32 weeks, fluorescein angiography performed, and with high oxygen exposure without adequate control were included.
Results:
294 infants diagnosed with ROP were analyzed. Only 28 eyes from 14 patients with peripheral vascular abnormalities in older and heavier babies were included. Two distinct type of peripheral vascular changes were observed: group 1 or non-proliferative: areas of capillary non-perfusion along with widespread arteriovenous shunting between adjacent primary vessels, tortuosity of primary vessels, abnormal budding of tertiary vessels and capillaries, abnormal capillary tufts and absence of foveal avascular zone; group 2 or proliferative: all of the characteristics of group 1 plus leakage of dye from the boundary between perfused and non-perfused retina and/or optic disc.
Conclusion:
Peripheral vascular abnormalities different from retinopathy of prematurity are observed in older than 32 weeks of gestational age, and heavier than 1500 g babies. This makes the authors classify these patients as having a disease caused solely by oxygen dysregulation at the neonatal intensive care unit similarly to the oxygen induced retinopathy in experimental studies.