OpenMed/multicare-articles huggingface dataset:
Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?
Authors: Linda Gaillard, Anne Goverde, Quincy C C van den Bosch, Fernanda S Jehee, Erwin Brosens, Danielle Veenma, Frank Magielsen, Annelies de Klein, Irene M J Mathijssen, Marieke F van Dooren
Journal: Front Pediatr (2021)
Keywords: bcl11b, case report, congenital diaphragmatic hernia (cdh), craniosynostosis, craniosynostosis syndromes
MeSH terms: Case Reports

Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect that presents as either an isolated diaphragm defect or as part of a complex disorder with a wide array of anomalies (complex CDH). Some patients with complex CDH display distinct craniofacial anomalies such as craniofrontonasal dysplasia or craniosynostosis, defined by the premature closure of cranial sutures. Using clinical whole exome sequencing (WES), we found a BCL11B missense variant in a patient with a left-sided congenital diaphragmatic hernia as well as sagittal suture craniosynostosis. We applied targeted sequencing of BCL11B in patients with craniosynostosis or with a combination of craniosynostosis and CDH. This resulted in three additional BCL11B missense mutations in patients with craniosynostosis. The phenotype of the patient with both CDH as well as craniosynostosis was similar to the phenotype of previously reported patients with BCL11B missense mutations. Although these findings imply that both craniosynostosis as well as CDH may be associated with BCL11B mutations, further studies are required to establish whether BCL11B variants are causative mutations for both conditions or if our finding was coincidental.
Swimming as Treatment of Scapular Dyskinesis
Authors: Max Rogerio Freitas Ramos, Yonder Archanjo Ching San Junior, Leonardo Antunes Bellot de Souza
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Scapular dyskinesis is quite frequent and can lead to shoulder pain. The diagnosis is essentially clinical. The main cause is muscle imbalance, between the trapezius, rhomboids, and pectoralis minor. In these cases, rehabilitation is the best treatment. We present a case of a young male patient with dyskinesis due to axonal involvement of the long thoracic nerve and paresis of the anterior serratus muscle. After a swimming program to increase muscular strength and imbalance, he experienced pain reduction and functional recovery of the upper limb, with reduction of the winged scapula.
Case report: Paravalvular regurgitation post transcatheter aortic valve replacement: When in doubt choose cardiac magnetic resonance
Authors: Michael B Hadley, Francesca Romana Prandi, Francesco Barillà, Samin Sharma, Annapoorna Kini, Stamatios Lerakis
Journal: Front Cardiovasc Med (2022)
Keywords: cardiac magnetic resonance (cmr), case report, multimodality imaging, paravalvular leak (pvl), structural heart disease, transcatheter aortic valve replacement (tavr)
MeSH terms: Case Reports

Paravalvular leak (PVL) is a common complication following transcatheter aortic valve replacement (TAVR). Significant PVL is associated with adverse prognosis, but may be challenging to assess accurately. We report the case of an 81-year-old man with shortness of breath 5 months post TAVR. Echocardiography classified PVL as either moderate or severe depending on the parameter utilized, while angiography found only mild PVL. Cardiac magnetic resonance allowed an exact quantification of regurgitant flow volume, classified as clinically and hemodynamically significant. This case highlights the role of multimodality imaging assessment including cardiac magnetic resonance for a more accurate assessment of PVL severity, especially when other imaging modalities show discordant results.
Giant colonic lipoma causing intussusception: CT scan and clinical findings
Authors: Ozkan Ozen, Yilmaz Guler, Yavuz Yuksel
Journal: Pan Afr Med J (2019)
Keywords: colon, computerized tomography, intussusception, lipoma, liposarcoma
MeSH terms: Colonic Neoplasms / complications, Intussusception / etiology, Lipoma / complications, Tomography, X-Ray Computed / methods, Case Reports, Abdominal Pain / etiology, Adult, Colonic Diseases / diagnostic imaging, Colonic Diseases / etiology, Colonic Neoplasms / diagnostic imaging, Colonic Neoplasms / surgery, Female, Humans, Intussusception / diagnostic imaging, Lipoma / diagnostic imaging, Lipoma / surgery

Colonic lipomas are uncommon and usually asymptomatic tumors. A 30-year-old woman with abdominal pain lasting 10 days was admitted to the surgical clinic. Her physical examination revealed sensitivity on the right upper quadrant and her bowel sounds were normal. A lesion and invagination findings in the colon were found in the ultrasound examination and CT was performed. CT scan revealed a lipoma and invagination in the colon and the patient has undergone surgery. Pathological diagnosis of the lesion was reported as submucosallipoma. In this case report, we present clinical and radiological findings of a submucosal colonic lipoma causing intussusception.
Optic Neuropathy with Features Suggestive of Optic Neuritis in Cerebrotendinous Xanthomatosis
Authors: Miyuki Miyamoto, Nobuyuki Ishii, Hitoshi Mochizuki, Kazutaka Shiomi, Tomoko Kaida, Hideki Chuman, Masamitsu Nakazato
Journal: Case Rep Neurol Med (2019)
MeSH terms: Case Reports

We describe our encounter with a 39-year-old man who exhibited acute painless visual loss and progressive gait disturbance. He had tendinous xanthoma and several neuroophthalmological findings indicative of optic neuropathy in the right eye, including afferent pupillary defect, cecocentral scotoma, and optic disc swelling. Neurological examination showed cerebellar ataxia and pyramidal weakness. Brain magnetic resonance imaging revealed bilateral swelling in the optic nerves with gadolinium-enhancement suggesting optic neuritis, an enlarged fourth ventricle, atrophy of the cerebellum, and hyperintensities in the bilateral dentate nuclei. The patient was diagnosed with cerebrotendinous xanthomatosis (CTX) based on an elevated serum cholestanol level and a homozygous missense mutation in CYP27A1. CTX is a genetic lipid storage disease caused by dysfunction of the mitochondrial enzyme sterol 27-hydroxylase. With respect to ophthalmological manifestations, juvenile cataracts and optic neuropathy are common findings in patients with CTX, but there have been no reports of optic neuropathy with features suggestive of optic neuritis. Thus, this case illustrates that clinicians should consider a diagnosis of CTX in patients with cardinal features of CTX even if the patients show signs indicative of optic neuritis.
Paravertebral mass in a patient with hemolytic anemia: computed tomographic findings
Authors: Juliana França Carvalho, Edson Marchiori, Gláucia Zanetti, Claudia Mauro Mano, Branca Sarcinelli-Luz, Flávia Gavinho Vianna, Carla Assed, Isabella Guedes Santos, Alair Augusto S M D Santos, Alberto Domingues Vianna
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Extramedullary hematopoiesis is characterized by the presence of hematopoietic tissue outside of the bone marrow and is typically associated with chronic hemolytic anemias. Intrathoracic extramedullary hematopoiesis is a rare and usually asymptomatic condition. The authors report a case of a 57-year-old man with intrathoracic extramedullary hematopoiesis and hereditary spherocytosis. Clinical and laboratory evaluation, together with radiological findings, are described. The diagnosis of the disease was confirmed by tissue biopsy.
An Appendiceal Carcinoid Tumor within an Amyand's Hernia Mimicking an Incarcerated Inguinal Hernia
Authors: Gregorios Christodoulidis, Konstantinos Perivoliotis, Alexandros Diamantis, Dionysios Dimas, Michael Spyridakis, Konstantinos Tepetes
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

Introduction. We report the case of an appendiceal carcinoid tumor within an Amyand's hernia, presenting as an incarcerated right inguinal hernia. Presentation of Case. A 52-year-old male presented in the emergency department due to a persistent right inguinal pain. Clinical examination revealed a tender right groin mass. Laboratory tests revealed leukocytosis and an increased serum CRP. Under the diagnosis of an incarcerated right inguinal hernia, an emergency operation was taken. Intraoperatively, an inflamed appendix and a part of the cecum were found in the hernia sac. The operation was completed with an appendectomy and a modified Bassini hernia repair. Histological examination revealed a carcinoid tumor, resulting in the performance of a right hemicolectomy. Discussion. Amyand's hernia is estimated to account for 0.4% to 0.6% of all inguinal hernias. Coexistence of an Amyand's hernia and a neoplasia is quite rare. Carcinoids are the most frequent tumors found in the appendix, with the size of the primary tumor to be considered the most important prognostic factor and the basis upon which the operative plan is decided. Conclusion. A malignancy of the appendix should always be in the differential diagnosis of a right inguinal mass, in order to provide optimum surgical treatment.
Compound heterozygous FAM20C gene variants in a patient with severe Raine syndrome: a case report
Authors: Camelia Chirteș, Alina Bogliș, Andrea Toth, Corina Rac, Claudia Bănescu
Journal: Front Genet (2023)
Keywords: fam20c gene, case report, congenital disorder, craniofacial dysmorphism, osteosclerosis, raine syndrome
MeSH terms: Case Reports

Raine syndrome is a congenital disorder caused by biallelic mutations in the FAM20C gene. While most diagnosed cases of the syndrome are lethal in the first few months of life, there are also reports of non-lethal cases with Raine syndrome. The characteristic of this syndrome is typical facial dysmorphism and generalized osteosclerosis, as well as possible intracranial calcification, hearing loss, and seizures. We report a case of a 4-day-old patient at the time of examination, born with a distinct facial dysmorphism, short neck, narrow chest, and curved tibia. The parents, affirmative gypsy and non-consanguineous, had a previous male child born with the same phenotype who died at 4 months old. The computed tomography scan revealed choanal atresia, while transfontanelar ultrasound showed hypoplasia of the frontal and temporal lobes, corpus callosum dysgenesis, and multiple areas of intracranial hyperechogenicity. The chest X-Ray revealed generalized increased bone density. A skeletal disorders gene panel was performed which identified two variants in the FAM20C gene: a pathogenic variant c.1291C>T (p.Gln431*) and a likely pathogenic variant (c.1135G>A) (p.Gly379Arg), confirming the clinical diagnosis. The parents were also tested, and each was found to carry one of the variants. The particularity of this case is the severe phenotype in a compound heterozygous case that consists of FAM20C c.1291C>T (p.Gln431*) variant that has recently been reported in the literature. Also, our case is one of the few compound-heterozygous mutations in the FAM20C gene that has been described in a non-consanguineous marriage.
An unusual presentation of a swollen arm: a case report
Authors: Monica Kidd, Vina Broderick
Journal: J Med Case Rep (2014)

Introduction:
Subclavian vein thrombosis is a rare but potentially fatal condition that most often occurs iatrogenically or in the context of malignancy. Here we report the case of an active, healthy 32-year-old woman who presented with subtle findings of arm pain, paresthesias and skin changes of acute onset and was subsequently diagnosed with upper extremity deep vein thrombosis and subclavian stenosis, and was started on a course of oral antithrombotics.
Case presentation:
A 32-year-old right-handed Caucasian woman presented to her family medicine clinic with left shoulder pain and numbness along her ipsilateral forearm and hand, as well as subtle swelling of the affected limb. Initially diagnosed with medial epicondylitis, she was later diagnosed with subclavian thrombosis caused by Paget-Schröetter syndrome.
Conclusion:
Presentations such as these are often attributable to soft-tissue injuries that resolve with rest and sometimes physiotherapy. Subclavian thrombosis was a highly unexpected diagnosis in this case; however, family physicians must remain vigilant in considering rare causes of common clinical presentations which could cause patients significant morbidity if left undiagnosed.
Aqueductal developmental venous anomaly as an unusual cause of congenital hydrocephalus: a case report and review of the literature
Authors: David Paulson, Steven W Hwang, William E Whitehead, Daniel J Curry, Thomas G Luerssen, Andrew Jea
Journal: J Med Case Rep (2012)

Introduction:
Aqueductal stenosis may be caused by a number of etiologies including congenital stenosis, tumor, inflammation, and, very rarely, vascular malformation. However, aqueductal stenosis caused by a developmental venous anomaly presenting as congenital hydrocephalus is even more rare, and, to the best of our knowledge, has not yet been reported in the literature. In this study, we review the literature and report the first case of congenital hydrocephalus associated with aqueductal stenosis from a developmental venous anomaly.
Case presentation:
The patient is a three-day-old, African-American baby girl with a prenatal diagnosis of hydrocephalus. She presented with a full fontanelle, splayed sutures, and macrocephaly. Postnatal magnetic resonance imaging showed triventricular hydrocephalus, suggesting aqueductal stenosis. Examination of the T1-weighted sagittal magnetic resonance imaging enhanced with gadolinium revealed a developmental venous anomaly passing through the orifice of the aqueduct. We treated the patient with a ventriculoperitoneal shunt.
Conclusions:
Ten cases of aqueductal stenosis due to venous lesions have been reported and, although these venous angiomas and developmental venous anomalies are usually considered congenital lesions, all 10 cases became symptomatic as older children and adults. Our case is the first in which aqueductal stenosis caused by a developmental venous anomaly presents as congenital hydrocephalus. We hope adding to the literature will improve understanding of this very uncommon cause of hydrocephalus and, therefore, will aid in treatment.
Page Kidney in a Child with Severe Pelviureteric Junction Obstruction
Authors: Senthil G Kamaraj, Ashita Kochunny, Gopinathan Kathirvelu, Praachi Singh, Naeem Samnakay
Journal: Case Rep Urol (2020)
MeSH terms: Case Reports

There are various causes of Reno Vascular Hypertension in children reported in the literature. Amongst these, Page kidney gets a rare mention. This phenomenon is a result of the accumulation of blood or urine in the perinephric or subcapsular space, resulting in compression of renal parenchyma, microvascular ischemia, alteration in the renin-angiotensin apparatus, and high renin hypertension. It has been well documented and studied in adults. Only a few cases are reported in the paediatric population. We report a rare presentation of Page kidney in a 5 year 8 months old girl. She initially presented with Dietl's crisis secondary to left Pelviureteric Junction obstruction (PUJO) causing massive hydronephrosis. She developed Page kidney phenomenon after spontaneous rupture of the pelvicalyceal system formed a tight compressive urinoma. She was managed successfully with internal JJ stenting and ultrasound-guided aspiration of the urinoma followed by elective delayed Pyeloplasty. To our knowledge, this is the first documented case of Page kidney in a child with severe PUJO.
Arginine-Restricted Therapy Resistant Bilateral Macular Edema Associated with Gyrate Atrophy
Authors: Sibel Doguizi, Mehmet Ali Sekeroglu, Mustafa Alpaslan Anayol, Pelin Yilmazbas
Journal: Case Rep Ophthalmol Med (2015)

Introduction. Gyrate atrophy is a rare genetical metabolic disorder affecting vision. Here, we report a 9-year-old boy with gyrate atrophy associated with bilateral macular edema at the time of diagnosis and the effect of long term metabolic control on macular edema. Case Presentation. A 9-year-old boy presented with a complaint of low visual acuity (best corrected visual acuity: 20/80 in both eyes, refractive error: -12.00 D). Dilated fundus examination revealed multiple bilateral, sharply defined, and scalloped chorioretinal atrophy areas in the midperipheral and peripheral zone. Spectral-domain optical coherence tomography revealed bilateral cystoid macular edema in both eyes. Serum ornithine level was high (622 μmol/L). An arginine-restricted diet reduced serum ornithine level (55 μmol/L). However, visual findings including macular edema remained unchanged in 2 years of follow-up. Conclusion. Arginine-restricted diet did not improve macular edema in our patient with gyrate atrophy. A more comprehensive understanding of the underlying factors for macular edema will lead to the development of effective therapies.
An Isolated Perforation of the Fourth Part of the Duodenum Following Blunt Abdominal Trauma: A Case Report
Authors: Yashjot Kaur, Ravneet Kaur, Harsimrat Singh, Arpan Josan
Journal: Cureus (2023)
Keywords: case report, duodenal perforation, enteral feeding, graham patch repair, perforation, surgery, trauma
MeSH terms: Case Reports

An isolated perforation of the duodenum is rare in cases of blunt abdominal trauma, and diagnosis is often delayed due to subtle clinical signs. We present the case of a 13-year-old male patient who presented to the hospital with an alleged history of being run over in the abdomen by a vehicle and a complaint of severe abdominal pain. Radiography of the abdomen in the standing position showed air under the diaphragm, and ultrasonography revealed free fluid in the pelvic and peritoneal cavities, clinching the diagnosis of hollow viscus perforation. The patient was resuscitated and underwent an exploratory laparotomy under general anesthesia. On exploration, no perforation was found in the intraperitoneal organs. The retroperitoneum was opened, and the Cattell-Braasch maneuver was used to approach the duodenum. A single perforation was discovered in the fourth part, and a modified graham patch repair was done. As soon as the patient's bowel sounds returned, a low-fat diet was started through a nasojejunal tube placed distal to the perforation site. The patient was discharged in good condition and is doing well with regular follow-ups. This case emphasizes the need for a high index of suspicion for gut perforation of both intra- and retroperitoneal organs after blunt trauma. This will help in early diagnosis and timely management to reduce perforation-associated mortality. Damage control surgery, with primary closure of the perforation, is well-suited and preferred in an emergency and resource-limited setting.
Prosthetic, orthodontic and implant-supported rehabilitation of five maxillary anterior teeth with alveolar bone loss
Authors: Odilon Guariza-Filho, Cristiano Miranda de Araujo, Angela Graciela Deliga Schroder, Orlando Motohiro Tanaka, Ricardo Kern, Antonio Carlos Ruellas
Journal: Dental Press J Orthod (2018)
MeSH terms: Alveolar Bone Loss / rehabilitation, Dental Prosthesis, Implant-Supported, Jaw, Edentulous, Partially / rehabilitation, Case Reports, Adult, Alveolar Bone Loss / etiology, Bone Transplantation, Dental Implantation, Endosseous / methods, Female, Humans, Maxilla, Maxillofacial Injuries / complications, Maxillofacial Injuries / rehabilitation, Tooth Injuries / rehabilitation

Introduction:
Treatment of maxillofacial injuries is complex and requires the establishment of a comprehensive and accurate diagnosis and correct treatment planning.
Objective:
The objective of this case report was to describe the re-treatment of a 27-year-old woman who was involved in a severe car accident that resulted in the loss of five anterior teeth and alveolar bone, and whose previous orthodontic and surgical treatments had been unsuccessful.
Case report:
In this case, the space for the missing mandibular molar was reopened to allow for rehabilitation. The positions of the mandibular incisors were improved. The right mandibular canine was moved to the mesial, allowing for correction of the Class II canine relationship on that side, and implants were placed to replace the maxillary anterior teeth.
Conclusion:
Anterior aesthetic and functional rehabilitation using a multidisciplinary approach was essential to improve the patient's facial aesthetics, to obtain great improvement in function and to achieve occlusal stability after 2 years of follow-up.
Case report: Long-term survival in a patient with metastatic colorectal cancer treated with trifluridine/tipiracil in the third-line setting
Authors: Mohamed ELBassiouny
Journal: Front Oncol (2023)
Keywords: case report, long-term survival, metastatic colorectal cancer, third-line, trifluridine/tipiracil
MeSH terms: Case Reports

Third-line treatment with trifluridine/tipiracil (FTD/TPI) is recommended for patients with metastatic colorectal cancer (mCRC) or gastric/gastroesophageal cancer (GC) who have progressed beyond first- and second-line therapy. We describe a patient with long-term survival following treatment with FTD/TPI. The patient, a 70-year-old woman diagnosed with right-sided mCRC (T3/N1) with metastases to the aortocaval and precaval lymph nodes, received first-line panitumumab and capecitabine for 6 months, followed by second-line bevacizumab and oxaliplatin. She had disease progression following 9 months of second-line therapy and began third-line treatment with FTD/TPI (50 mg bid). Three months after treatment initiation, lymph node involvement was reduced, and following 12 months of FTD/TPI treatment, her disease had stabilized, and she reported no treatment-related adverse events. She remained on the same dose of FTD/TPI for more than 27 months after initiating treatment, with maintenance of stable disease. This patient with mCRC demonstrated a survival benefit with FTD/TPI beyond those reported in published clinical trial data and real-world studies.
Case report: Myocardial perfusion gated-SPECT in pulmonary artery hypertension-the Movahed's sign
Authors: Kevin Hamzaraj, Silvia Angjeliu, Paul Knopf, Michael Stadler, Kamil Zbucki, Lisbona Kastrati, Senta Graf, Mariann Gyöngyösi, Marcus Hacker, Raffaella Calabretta
Journal: Front Cardiovasc Med (2023)
Keywords: case report, myocardial gated-spect, myocardial perfusion, pulmonary artery hypertension, right ventricle
MeSH terms: Case Reports

Primary pulmonary artery hypertension (PAH) is a clinical diagnosis that requires the exclusion of other underlying causes of pulmonary hypertension (PH). Increased pulmonary artery (PA) pressure and subsequent right ventricular (RV) pressure overload often result in a flattening of the curved interventricular septum, leading to a D-shaped left ventricle (LV), as observed in echocardiographic short-axis views. A similar finding may be also observed on myocardial perfusion SPECT images, the so-called Movahed's sign. We present a clinical case of a female patient with PAH and progression of exertional dyspnea that underwent myocardial perfusion SPECT to investigate LV myocardial ischemia. The SPECT images revealed enhanced tracer uptake in the dilated right ventricle. Additionally, we observed a D-shaped LV or Movahed's sign, which may serve as a potential marker of RV pressure overload, along with a small stress-induced perfusion defect on the LV septal wall. Our findings highlight the importance of considering the presence of a D-shaped LV and signs of RV pressure overload, as they can alter the interpretation of LV perfusion deficits on SPECT images. This case report aims to emphasize the complex nature of right heart abnormalities in pathologies such as PAH and the consideration of the RV implications in myocardial SPECT images-which typically focus solely on the LV.