OpenMed/multicare-articles huggingface dataset:
Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Ser fs*5)
Authors: Jordan Teoli, Delphine Mallet, Lucie Renault, Claire-Lise Gay, Elsa Labrune, Patricia Bretones, Sandrine Giscard D'Estaing, Béatrice Cuzin, Frédérique Dijoud, Florence Roucher-Boulez, Ingrid Plotton
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: azoospermia, congenital, disorder of sex development, gonadal dysgenesis, hypospadias, male infertility, spermatogenesis, testicular sperm extraction
MeSH terms: Sexual Maturation, Testosterone, Case Reports, Adolescent, Anti-Mullerian Hormone, Child, Follow-Up Studies, Humans, Male, Steroidogenic Factor 1 / genetics, Testis, Anti-Mullerian Hormone, Steroidogenic Factor 1, Testosterone

Background:
Steroidogenic factor 1 (SF-1), encoded by the nuclear receptor subfamily 5 group A member 1 (NR5A1) gene, is a transcriptional factor crucial for adrenal and gonadal organogenesis. Pathogenic variants of NR5A1 are responsible for a wide spectrum of phenotypes with autosomal dominant inheritance including disorders of sex development and oligospermia-azoospermia in 46,XY adults. Preservation of fertility remains challenging in these patients.
Objective:
The aim was to offer fertility preservation at the end of puberty in an NR5A1 mutated patient.
Case report:
The patient was born of non-consanguineous parents, with a disorder of sex development, a small genital bud, perineal hypospadias, and gonads in the left labioscrotal fold and the right inguinal region. Neither uterus nor vagina was detected. The karyotype was 46,XY. Anti-Müllerian hormone (AMH) and testosterone levels were low, indicating testicular dysgenesis. The child was raised as a boy. At 9 years old, he presented with precocious puberty treated by triptorelin. At puberty, follicle-stimulating hormone (FSH), luteinising hormone (LH), and testosterone levels increased, whereas AMH, inhibin B, and testicular volume were low, suggesting an impaired Sertoli cell function and a partially preserved Leydig cell function. A genetic study performed at almost 15 years old identified the new frameshift variant NM_004959.5: c.207del p.(Phe70Serfs*5) at a heterozygous state. He was thus addressed for fertility preservation. No sperm cells could be retrieved from three semen collections between the ages of 16 years 4 months and 16 years 10 months. A conventional bilateral testicular biopsy and testicular sperm extraction were performed at 17 years 10 months of age, but no sperm cells were found. Histological analysis revealed an aspect of mosaicism with seminiferous tubules that were either atrophic, with Sertoli cells only, or presenting an arrest of spermatogenesis at the spermatocyte stage.
Conclusion:
We report a case with a new NR5A1 variant. The fertility preservation protocol proposed at the end of puberty did not allow any sperm retrieval for future parenthood.
Fishbone-associated actinomycosis of the anterior cervical space: a diagnostic dilemma
Authors: Sang Kwon Lee, Mi Jeong Kim, Sun Young Kwon
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

We report the imaging and pathologic findings of fishbone-associated actinomycosis of the anterior cervical space in a 57-year-old man, misdiagnosed preoperatively as a malignancy originating from thyroglossal duct cyst. CT revealed an enhancing mass containing a small abscess pocket and two sharp linear calcifications within it, which infiltrated into the strap muscle. Pathologic examination demonstrated two fishbones within the actinomycotic abscess. Fishbone-associated actinomycosis should be considered when a cervical mass contains sharp linear calcifications.
Interruption of the Right Pulmonary Artery in a Neonate
Authors: Mohammadreza Khalilian, Taraneh Faghihi Langroudi, Ali Dabbagh, Ramin Baghaei Tehrani, Tahmineh Tahouri
Journal: Case Rep Cardiol (2022)
MeSH terms: Case Reports

Interruption of the right pulmonary artery is a very rare anomaly which can be associated with other congenital heart lesions or can occur in isolation. Clinical presentations of the unilateral interruption of a pulmonary artery are varied including pulmonary hypertension, recurrent infection, dyspnea, exercise intolerance, hemoptysis, and chest pain. Less commonly, patients may be asymptomatic. Diagnosis of this anomaly is made by echocardiography and CT angiography as well as cardiac MRI. Treatment options are medical versus surgical management and often recommended in symptomatic patients with pulmonary hypertension, recurrent infection, and hemoptysis. Herein, we describe a very rare case of right pulmonary artery originating from the right subclavian artery in a 12-day-old neonate.
McKittrick-Wheelock Syndrome Presenting with Acute Kidney Injury and Metabolic Alkalosis: Case Report and Narrative Review
Authors: Mireille Caron, Charles-Etienne Dubrûle, François Letarte, Valéry Lemelin, Alexandre Lafleur
Journal: Case Rep Gastrointest Med (2019)
MeSH terms: Case Reports

A rare combination of severe volume depletion and electrolyte imbalance caused by a rectal villous adenoma is often referred to as the McKittrick-Wheelock syndrome. Patients usually seek medical care because of chronic hypersecretory diarrhea and display renal failure, metabolic acidosis, hyponatremia, and hypokalemia. We report the case of a 68-year-old woman who presented with this condition but showed unusual features such as severe hypokalemia and metabolic alkalosis, without diarrhea. She subsequently underwent transanal endoscopic microsurgery (TEMS), an innovative procedure in the management of large rectal adenomas. We also provide a narrative review of the literature on this rare entity.
Endovascular management of a mycotic group A streptococcal abdominal aortic dissection
Authors: John Colville, Manmohan Madan, Khalid Bashaeb, Riza Ibrahim, Abysinia Sibanda
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Pyrexia of unknown origin can represent a great diagnostic difficulty to clinicians. We present a case of pyrexia with abdominal and back pain, in which blood cultures performed demonstrated group A haemolytic streptococcus. Having recently been abroad, the patient was investigated to find a source. CT scans performed subsequently demonstrated an inflammatory infrarenal abdominal aortic dissection. The patient was treated with intravenous antibiotics and underwent endovascular repair. This case details the unusual presentation of spontaneous abdominal aortic dissection and its management by endovascular means. Emphasis is placed on the often clandestine manner of presentation of this condition and the importance of awareness in the investigating clinician. This case presents a patient infected with group A haemolytic streptococcus, leading to aortitis and spontaneous dissection, previously unreported in the literature.
Invasive sphenoid sinus aspergillosis mimicking sellar tumor: a report of 4 cases and systematic literature review
Authors: Hanwen Zhang, Nian Jiang, Xuelei Lin, Siyi Wanggou, Jeffrey J Olson, Xuejun Li
Journal: Chin Neurosurg J (2020)
Keywords: cavernous sinus syndrome, imaging features, intracranial aspergillosis, invasive fungal sinusitis, prognosis, sellar mass, sphenoid sinus infection
MeSH terms: Case Reports

Background:
Invasive sphenoid sinus aspergillosis is a rare but life-threatening condition usually found in immunocompromised patients. When involving cavernous sinus and surrounding structures, patients are frequently misdiagnosed with a neoplasm or sellar abscess. Timely diagnosis and intervention are crucial to patients' outcomes. The objective of this study is to review cases of invasive sphenoid sinus aspergillosis to describe disease manifestations, imaging features, treatment, and outcome.
Case presentation:
We describe four patients with invasive sphenoid sinus aspergillosis misdiagnosed as sellar tumors preoperatively. The mass was completely removed in three patients and partially removed in one patient microscopically. Pathological examinations confirmed Aspergillus in all cases. All four patients received anti-fungal agents postoperatively. There was no recurrence at the time of each patient's follow-up date. One patient with complete resection was lost to follow-up while the other three patients' neurologic function improved. Additionally, we performed a systematic review regarding invasive sphenoid sinus aspergillosis of existing English literature.
Conclusion:
With regard to clinical symptoms, headache, vision impairment, and ophthalmoplegia were observed in over half of the patients in the literature. A sellar mass with bone destruction on CT and involvement of cavernous sinus is highly suggestive of invasive fungal sphenoid sinusitis. Immediate surgical removal of the lesion is recommended for invasive sphenoid sinus aspergillosis to preserve nerve function and increase the likelihood of survival.
Stabbing Yourself in the Heart: A Case of Autoimmunity Gone Awry
Authors: Hari Vigneswaran, Leslie Parikh, Athena Poppas
Journal: Case Rep Med (2015)

Within internal medicine, cardiac and neurologic pathology comprises a vast majority of patient complaints. Physicians and advanced-care practitioners must be highly educated and comfortable in the evaluation, diagnosis, and management of these entities. Chest pain accounts for millions of annual visits to the emergency room with pericarditis diagnosed in approximately four percent of patients with nonischemic chest pain. Guillain-Barre Syndrome is autoimmune polyneuropathy that often results in transient paralysis. Simultaneous diagnosis of both entities is a rare but described phenomenon. Here, we present a clinical case of GBS associated pericarditis. A fifty-five-year-old man with history of renal transplant presented with lower extremity weakness and urinary incontinence. Physical exam and diagnostic studies confirmed Guillain-Barre Syndrome. Patient subsequently developed stabbing chest pain with clinical presentation and electrocardiogram consistent with pericarditis. The patient was successfully treated for both diseases. This case highlights that although infrequent, internal medicine care providers must be cognizant of this correlation to ensure timely diagnosis and treatment.
Successful Management of Coronavirus Disease 2019-Related Respiratory Failure Using High-Flow Nasal Cannula Therapy in a Patient with Underlying Pulmonary Artery Hypertension
Authors: Mariko Kotani, Tomoki Kohyama, Kiyoshi Moriyama, Tomoko Yorozu
Journal: Case Rep Pulmonol (2022)
MeSH terms: Case Reports

A case involving a 50-year-old woman (height, 155 cm; weight, 79.6 kg), who was undergoing home oxygen therapy (3.5 L/min), with an oxygen saturation (SpO2) of approximately 91% due to pulmonary artery hypertension (PAH) with mixed connective tissue disease, is reported. The patient developed coronavirus disease 2019- (COVID-19-) related respiratory failure, with an SpO2 of 78% on oxygen inhalation (3.5 L/min) and was admitted to the authors' hospital. In accordance with remdesivir, dexamethasone, and heparin treatment, high-flow nasal cannula (HFNC) therapy was selected to avoid intubation. At an initial HFNC setting of 70% oxygen with a flow rate of 50 L/min, SpO2 improved to 92% and her subjective symptoms improved. She was weaned from HFNC on day 5 of admission (day 14 of COVID-19 onset) and discharged home on day 14 of admission. In patients with PAH, the beneficial effects of HFNC to avoid endotracheal intubation were evident in avoiding hemodynamic instability and worsening respiratory failure.
Effect of lamotrigine in the treatment of bipolar depression with psychotic features: a case report
Authors: Tomoko Kajiya, Hiroko Sugawara, Yusuke Kajio, Satoru Morieda, Hibiki Tanaka, Tadashi Jono, Noboru Fujise, Mamoru Hashimoto
Journal: Ann Gen Psychiatry (2017)
Keywords: bipolar depression, glutamatergic function, lamotrigine, mood-incongruent, psychotic features
MeSH terms: Case Reports

Background:
Major depressive episodes with psychotic features are more common in bipolar disorder than in major depressive disorder; however, there is little information on the optimal treatment for bipolar depression with psychotic features.
Case presentation:
The patient was a 69-year-old man. At the age of 66, he was admitted to the hospital for the treatment of bipolar depression with psychotic features. He was treated with a combination therapy of antipsychotics and antidepressants during long-term hospitalization. At the age of 69, he relapsed and was admitted to the hospital again. He was initially treated with olanzapine and lithium for the treatment of bipolar depression with psychotic features. He partially responded to the combination therapy, and psychomotor retardation and delusion of guilt disappeared; however, he developed psychomotor agitation and delusion of persecution, which was a mood-incongruent psychotic feature. Finally, he fully recovered with an additional dosage of lamotrigine, and had no experience of relapse after discontinuation of olanzapine.
Conclusions:
This case report implicates the utility of lamotrigine for bipolar depression with psychotic features, and further studies are needed to establish the optimal treatment.
Anterior Perineum: Between the Gynecological and Urinary Tract
Authors: Guillaume Puissant, Cristina Anca Dragean, Isabelle Leconte
Journal: J Belg Soc Radiol (2023)
Keywords: mri, urethral diverticulum, pelvis
MeSH terms: Case Reports

Teaching Point: Female urethral diverticulum is a rare condition that is often a diagnostic challenge; magnetic resonance imaging (MRI) is efficient to confirm the diagnosis (especially if endovaginal ultrasound is inconclusive), to assess the diverticulum prior to surgery, and to detect related complications including intra-diverticular neoplasm.
Alagille syndrome due to a de novo NOTCH 2 mutation presenting as prenatal oligohydramnios and congenital bilateral renal hypodysplasia: A case report
Authors: Fengdan Xu, Qi Peng, Xiaoguang He, Xiaolan Chen, Shuanglan Jiang, Xiaomei Lu, Ning Li
Journal: Front Pediatr (2022)
Keywords: alagille syndrome, notch2 gene, case report, congenitally bilateral renal hypodysplasia, prenatal oligohydramnios
MeSH terms: Case Reports

Introduction:
Here, we report the case of an infant suffering from Alagille syndrome (ALGS), manifesting with the atypical clinical manifestations of prenatal oligohydramnios and renal lesions. To the best of our knowledge, this is the first case of ALGS presenting as prenatal oligohydramnios and renal lesions caused by a de novo variant of the NOTCH2 gene.
Case presentation:
A 3-month-old male infant was hospitalized for severe malnutrition. He presented with prenatal oligohydramnios from 28+4 weeks of gestation. After birth, he failed to thrive and suffered from impaired motor development, thermoregulation disorders, congenital bilateral renal hypodysplasia, which initially manifested as stage 5 before improving to stage 3 chronic renal impairment, slightly elevated levels of transaminases, cholestasis, and dysmorphic facial features. We used a diagnostic screening panel of 4,047 pathogenic genes and whole exome sequencing (WES) to analyze the proband and his parents (who had normal kidneys). We found that the proband carried a de novo heterozygous splicing variant (c.5930-2A > G) in intron 33 of the NOTCH2 gene. Transcriptome sequencing confirmed that the mutation of this gene site would affect the splicing of NOTCH2 mRNA and lead to exon 33 skipping.
Conclusions:
Our case expands the spectrum of pathogenic variants of the NOTCH2 gene that are known to be associated with ALGS and characterized by prenatal oligohydramnios and renal lesions. It also reminds us of the necessity to monitor the liver and kidney function of the infant if a mother has oligohydramnios during pregnancy and we recommend ALGS as an additional differential diagnosis in prenatal renal abnormalities.
Aortic Dissection Presenting as Septic Shock: A Case Report and Literature Review
Authors: Jing Feng, Rui Liu, Sai Ma, Changkui Cao, Wei Zhang, Yang Zhao, Shinan Nie
Journal: Case Rep Emerg Med (2018)
MeSH terms: Case Reports

Acute aortic dissection is a life-threatening clinical emergency, which mostly occurs in aged patients and presents with sharp chest pain. In this paper, we reported a case of acute aortic dissection, which induced septic shock in a young woman, without typical chest pain. The septic shock was possibly due to the bacterial translocation caused by aortic dissection-induced intestinal ischemia and intestinal epithelial barrier dysfunction. Our case appeared as the first case report of aortic dissection presenting as septic shock. This case is rare but can serve as a reminder that aortic dissection may be accompanied by septic shock, and this could result in a grave outcome.
Esthetic rehabilitation of anterior teeth with laminates composite veneers
Authors: Dino Re, Gabriele Augusti, Massimo Amato, Giancarlo Riva, Davide Augusti
Journal: Case Rep Dent (2014)

No- or minimal-preparation veneers associated with enamel preservation offer predictable results in esthetic dentistry; indirect additive anterior composite restorations represent a quick, minimally invasive, inexpensive, and repairable option for a smile enhancement treatment plan. Current laboratory techniques associated with a strict clinical protocol satisfy patients' restorative and esthetic needs. The case report presented describes minimal invasive treatment of four upper incisors with laminate nanohybrid resin composite veneers. A step-by-step protocol is proposed for diagnostic evaluation, mock-up fabrication and trial, teeth preparation and impression, and adhesive cementation. The resolution of initial esthetic issues, patient satisfaction, and nice integration of indirect restorations confirmed the success of this anterior dentition rehabilitation.
Granuloma caused by carbon deposition in the dermis
Authors: Rintaro Shibuya, Yuichiro Endo, Akihiro Fujisawa, Miki Tanioka, Yoshiki Miyachi
Journal: Case Rep Dermatol Med (2014)

Pencil core granuloma is characterized by a delayed foreign-body reaction against retained fragments of pencil lead. Previous case reports presented pencil core granuloma resembling malignant melanoma, haemangioma, or soft tissue sarcoma. We present a case of pencil core granuloma arising from the palm 25 years after the initial injury. The patient presented a bluish nodule that had been present over 25 years before. The nodule initially measured 5 mm in diameter. However, five years before presentation, it suddenly enlarged to the size of 30 mm during six months. Computed tomography (CT) of the lesion revealed a linear radiopaque structure of 8 mm long with a mass on its distal end. Surgical resection revealed a bluish muddy mass and pencil lead. Histological examination revealed degenerative tissue with calcification surrounded by massive amounts of black granular material in the middle and lower dermis.
Case Report: Splenic Ischemia Induced by Volvulus of Ileum
Authors: Mauro Sergi, Giulia Chisari, Sofia Paolo Lombardo, Paolo Fontana
Journal: Front Surg (2022)
Keywords: ct scan, acute abdomen, splenic ischemia, volvulus, whirlpool sign
MeSH terms: Case Reports

A 31-year-old female patient was admitted to the emergency department with signs and symptoms of acute abdomen. Urgent CT scan was performed and small bowel volvulus, with whirlpool sign, was noted and torsion of the spleen was also involved too.
Advanced diffuse hepatic angiosarcoma treated successfully with TACE and targeted immunotherapy: A case report
Authors: Yucheng Lin, Zheng Chen, Jianchuan Yang, Ying Lin, Sheng Chen, Ying Xie, Songsong Wu
Journal: Front Oncol (2023)
Keywords: anlotinib, camrelizumab, hepatic angiosarcoma, immunotargeted therapy, interventional treatment (tace)
MeSH terms: Case Reports

Primary hepatic angiosarcoma (PHA), a rare soft tissue tumor, accounts for only 2% of all liver malignancies. Pathologically challenging, PHA is difficult to be distinguished from other malignancies with ultrasound, Computed Tomography (CT), or Magnetic Resonance Imaging (MRI). Due to late diagnosis and resistance against traditional chemotherapy and/or radiotherapy, only 3% of PHA patients can survive up to two years after diagnosis. To our best knowledge, this case report presents the first case of an advanced diffuse PHA with ruptured hemorrhage that has been effectively treated with TACE and Anlotinib plus Camrelizumab. So far, the patient has received 10 cycles of treatment and is faring well. Latest MRI results show that the tumor has shrunk by 56% and can be assessed as a partial response (PR). This case report includes our experience in treating such a advanced malignancy, and we hope that larger studies on advanced PHA can better quantify the potential benefit.
The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes
Authors: Evgenia Globa, Nataliya Zelinska, Andrew Dauber
Journal: Case Rep Endocrinol (2018)
MeSH terms: Case Reports

Background:
Geleophysic dysplasia is a rare multisystem disorder that principally affects the bones, joints, heart, and skin. This condition is inherited either in an autosomal dominant pattern due to FBN1 mutations or in an autosomal recessive pattern due to ADAMTSL2 mutations. Two patients with unaffected parents from unrelated families presented to their endocrinologist with severe short stature, resistant to growth hormone treatment. Routine endocrine tests did not reveal an underlying etiology. Exome sequencing was performed in each family. Our two patients, harboring de novo heterozygous FBN1 mutations p.Tyr1696Asp and p.Cys1748Ser, had common clinical symptoms such as severe short stature, characteristic facial features, short hands and feet, and limitation of joint movement. However, one patient had severe cardiac involvement whereas the other patient had tracheal stenosis requiring tracheostomy placement.
Conclusions:
Patients with severe dwarfism, skeletal anomalies, and other specific syndromic features (e.g., tracheal stenosis and cardiac valvulopathy) should undergo genetic testing to exclude acromelic dysplasia syndromes.
A Rare Presentation of Duodenal Diverticulum Causing Obstructive Jaundice: Lemmel's Syndrome
Authors: Priyal Shrivastava, Vadlamudi Nagendra, Amruta Varma, Sushma S, Anna Mary Jose
Journal: Cureus (2023)
Keywords: ct, duodenal diverticulum, lemmel’s syndrome, obstructive jaundice, periampullary diverticulum
MeSH terms: Case Reports

Lemmel syndrome is an uncommon pancreaticobiliary consequence of duodenal diverticula. We herein present a case of an 80-year-old male who presented with upper abdominal discomfort. Based on lab values and relevant clinical history, a diagnosis of obstructive jaundice was made. A contrast-enhanced CT scan of the abdomen revealed gross dilatation of intra-hepatic and extra-hepatic bile duct, cystic duct, common bile duct, major and minor pancreatic duct. A contrast-filled outpouching was seen from the medial wall of the second part of the duodenum with duodenal diverticulum and papilla within it. The abrupt termination of the common bile duct and main pancreatic duct adjacent to the thickened wall of the diverticulum was the cause of the patient's pancreaticobiliary obstruction. In the absence of cholelithiasis or tumor, the duodenal diverticulum that manifests as obstructive jaundice is known as Lemmel syndrome. Prompt identification of Lemmel syndrome can avoid dangerous complications and unnecessary investigations. Gallstones, cholangitis, and bile duct stones are more common in patients with duodenal diverticula. Treatment depends on patient presentation and may involve conservative management, surgical procedures in the form of excision of the diverticulum, or even endoscopic sphincterotomy or stenting.