OpenMed/multicare-articles huggingface dataset:
Cerebellar Involvement in an Immunocompetent Patient Presenting with Progressive Multifocal Leukoencephalopathy
Authors: Rafael Garcia-Carretero, Blanca San Jose Montano
Journal: Case Rep Neurol Med (2017)
MeSH terms: Case Reports

Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease caused by the JC virus, a polyomavirus that can be reactivated under certain immunosuppressive conditions, such as AIDS, immunomodulatory therapy, and haematological malignancies. However, a few cases of immunocompetent patients have been reported in which no immunodeficiency was present. We describe the case of an 83-year-old immunocompetent man who presented with severe cerebellar symptoms with an MRI scan suggestive of severe demyelinating disease. We were not able to identify any occult immunosuppression or malignancy in our patient.
Early loading of single-piece implant for partially edentulous posterior arch: a prospective one-year case report
Authors: Amol Beldar, Manohar L Bhongade, Girish Byakod, Chandrashekar Buregoni
Journal: Case Rep Dent (2013)

Implant therapy is now well established, and there is an increasing need for shorter rehabilitation time. Original prerequisites of osseointegration have been reassessed to satisfy continuously increasing patient's expectation of reduced treatment time, improved esthetics, and increased comfort. Shorter healing time may be appropriate in some circumstances, and examples of early loading have been reported in animal and human studies. However, to date there are insufficient data to determine a universally acceptable opinion on early loading of implants for single-tooth replacement. This case report involves early loading, combined with construction of a restoration, inserted directly after 6 weeks of implant surgery and followup of one year.
Laparoscopic nephrectomy for giant staghorn calculus with non-functioning kidneys: is associated unsuspected urothelial carcinoma responsible for conversion? Report of 2 cases
Authors: Hemendra Navinchandra Shah, Pritesh Jain, Percy Jal Chibber
Journal: BMC Urol (2006)
MeSH terms: Carcinoma, Transitional Cell / complications, Kidney Calculi / complications, Kidney Calculi / surgery, Kidney Neoplasms / complications, Kidney Pelvis, Laparoscopy, Nephrectomy / methods, Case Reports, Review, Carcinoma, Transitional Cell / surgery, Female, Humans, Kidney Calculi / pathology, Kidney Neoplasms / surgery, Male, Middle Aged

Background:
Neglected renal stones remain a major cause of morbidity in developing countries. They not only result in functional impairment of affected kidney, but also act as an important predisposing factor for development of urothelial neoplasms. It is not uncommon to miss an associated urothelial tumor in a patient of nephrolithiasis preoperatively.
Case presentation:
In last 3 years, we came across two patients with giant staghorn calculus and poorly functioning kidneys who underwent laparoscopic nephrectomy. In view of significant perirenal adhesions & loss of normal tissue planes both these patients were electively converted to open surgery. The pathological examination of specimen revealed an unsuspected urothelial carcinoma in both these patients. The summary of our cases and review of literature is presented.
Conclusion:
It is important to keep a differential diagnosis of associated urothelial malignancy in mind in patient presenting with long standing renal calculi. The exact role of a computerized tomography and cytology in preoperative workup for detection of possible associated malignancy in such condition is yet to be defined. Similarly if laparoscopic dissection appears difficult during nephrectomy for a renal calculus with non-functional kidney, keeping a possibility of associated urothelial malignancy in mind it is advisable to dissect in a plane outside gerotas fascia as for radical nephrectomy.
Cooccurrence of Darier's Disease and Epilepsy: A Pediatric Case Report and Review of the Literature
Authors: Tamer Celik, Umit Celik, Cigdem Donmezer, Mustafa Komur, Orkun Tolunay, Pelin Demirtürk
Journal: Case Rep Pediatr (2014)

Darier's disease is a skin disorder characterized by multiple eruptions of hyperkeratosis or crusted papules at seborrheic areas with histologic acantholysis and dyskeratosis. It is caused by mutations in a single gene, being ATP2A2 and that is expressed in the skin and brain. The cooccurrence of various neurologic and psychiatric diseases with Darier's disease has been reported frequently in literature. They include mood disorders, epilepsy, encephalopathy, and schizophrenia. In this study, we report a pediatric case with the cooccurrence of Darier's disease and epilepsy. We also revised current English literature on this topic.
Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation
Authors: Lebreton Louis, Gaschignard Margaux, Guibet Claire, Lamireau Delphine, Roche Sandrine, Richard Emmanuel, Ged Cécile, Mesli Samir, Redonnet-Vernhet Isabelle
Journal: JIMD Rep (2022)
Keywords: cardiomyopathy, children, fatty oxidation, primary carnitine deficiency
MeSH terms: Case Reports

Primary carnitine deficiency (PCD) is an inherited disease of fatty acid beta-oxidation with autosomal recessive inheritance. The disease manifests as metabolic decompensation with hypoketotic hypoglycaemia associated with cardiomyopathy, hepatomegaly, rhabdomyolysis, and seizures. Various outcomes are described from asymptomatic adults to dramatic sudden infant death syndrome cases. We present a severe case of PCD decompensation in an 18-week-old female. She presented with hypotonia, moaning, diarrhea, and vomiting at the pediatric emergency. Initially suspected as intracranial hypertension, the clinical condition evolved rapidly and caused a reversible cardiac arrest with profound hypoglycemia. Despite carnitine supplementation, she succumbed from cardiac arrhythmia and multivisceral failure 4 days after admission. The genetic analyses showed a PCD with biallelic pathogenic variants of SLC22A5 gene. The case report is notable for the severity of the cardiac damage possibly favored by maternal carnitine deficiency during pregnancy. The analysis of previously published PCD cases highlights (i) the importance of having large access to emergency biochemical tests for early therapeutic care although the disease has unpredictable severity and (ii) the fact that the clinical outcome remains unpredictable if carnitine treatment is initiated late.
Oral Localized Lesion on the Tongue in an Immunocompetent Individual: A Report of a Rare Case With a Comprehensive Review of the Literature
Authors: Priya Kumar, Sunita Gupta, Aarushi Garg, Aadithya Urs, Jeyaseelan Augustine, Pankaj Sharma, Nita Khurana
Journal: Cureus (2023)
Keywords: fungal disease, histoplasmosis, immunocompetent, oral deep fungal infections, oral histoplasmosis
MeSH terms: Case Reports

Histoplasmosis (HP) is a sporadic deep fungal disease that rarely shows oral lesions in various clinical forms. It is usually associated with immunocompromised states, but oral HP has also been reported in many immunocompetent individuals. An unusual case of focal oral HP in a 65-year-old immunocompetent male is reported from New Delhi, India (non-endemic region) presenting with oral ulcerative lesions on the floor of the mouth and lateral surface of the tongue. This case report highlights the importance of prompt diagnosis for the success of the treatment of oral HP along with a thorough review of the literature on HP in immunocompetent patients with oral manifestations. The average age of immunocompetent patients with oral HP is 49.65 years with a marked male predilection. The most common intraoral site is the tongue, followed by the gingiva. Also, five intraosseous cases of HP in immunocompetent patients are reported, among which four are seen in patients from Africa and in a much younger age group (mean: 17.25 years).
Posterior scleral perforation due to endogenous endophthalmitis in a pregnant with selective IgA deficiency
Authors: Marina Aguilar-González, Emma Marín-Payá, Marta Pérez-López, Maria Ángeles Bort-Martínez, Juan Aviñó-Martínez, Enrique España-Gregori
Journal: Rom J Ophthalmol (2022)
Keywords: iga deficiency, endogenous endophthalmitis, endophthalmitis
MeSH terms: Endophthalmitis / diagnosis, Endophthalmitis / drug therapy, Endophthalmitis / etiology, Eye Infections, Bacterial / microbiology, IgA Deficiency / complications, IgA Deficiency / drug therapy, Pseudomonas Infections / diagnosis, Pseudomonas Infections / drug therapy, Pseudomonas Infections / microbiology, Case Reports, Adult, Anti-Bacterial Agents / therapeutic use, Female, Humans, Pregnancy, Pseudomonas aeruginosa, Anti-Bacterial Agents, Immunoglobulin a deficiency 1

We present the case of a 35-year-old female patient, pregnant in her third trimester, with no ophthalmologic history of interest and a medical history of IgA deficiency syndrome with bronchiectasis as the only symptomatology, who came to another center with clinical symptoms of ocular discomfort. She was initially diagnosed with anterior uveitis and treated with topical and periocular corticosteroids. Edema and palpebral erythema appeared a few days later and she was diagnosed with idiopathic orbital inflammation and was treated with intravenous (I.V.) corticosteroids, which led to the appearance of a purulent palpebral and subconjunctival collection with a diagnosis of orbital cellulitis. At this time, she came to our center, where ultrasound and magnetic resonance imaging (MRI) showed intraocular and scleral destructuring with scleral perforation. The subconjunctival abscess was drained, being positive for pseudomonas aeruginosa, and sputum culture was positive for Pseudomonas aeruginosa, so she was diagnosed with endogenous endophthalmitis due to transient Pseudomonas aeruginosa bacteremia in the context of IgA deficiency syndrome and treated with antibiotherapy. Despite the improvement of the infectious clinic, the persistence of positive cultures for pseudomonas aeruginosa and the evolution to phthisis bulbi at 2 months led to definitive treatment with evisceration. To our knowledge, this is the first reported case of endogenous endophthalmitis associated with IgA deficiency and the first reported case of endogenous bacterial endophthalmitis caused by pseudomonas aeruginosa during pregnancy.
Case Report: Adult NTRK-Rearranged Spindle Cell Neoplasm: Early Tumor Shrinkage in a Case With Bone and Visceral Metastases Treated With Targeted Therapy
Authors: Federica Recine, Alessandro De Vita, Valentina Fausti, Federica Pieri, Alberto Bongiovanni, Eugenia Franchini, Roberto Casadei, Maria Cristina Falasconi, Devil Oboldi, Federica Matteucci, Maria Caterina Pallotti, Laura Mercatali, Nada Riva, Lorena Gurrieri, Silvia Vanni, Chiara Liverani, Giacomo Miserocchi, Chiara Spadazzi, Claudia Cocchi, Toni Ibrahim
Journal: Front Oncol (2022)
Keywords: ntrk fusions, ntrk-rearranged spindle cell neoplasm, oncogenic driver alterations, targeted therapies, visceral and bone involvement
MeSH terms: Case Reports

Background:
NTRK (neurotrophic tyrosine receptor kinase)-rearranged spindle cell neoplasms are a new group of tumors included in the new 5th edition of the World Health Organization (WHO) classification of soft Tissue and Bone Sarcomas. These tumors are characterized by NTRK gene fusions and show a wide spectrum of histologies and clinical behavior. Several targeted therapies have recently been approved for tumors harboring NTRK fusions, including STS.
Case presentation:
A 26-year-old male with advanced, pretreated NTRK rearranged spindle cell neoplasm and liver, lung and bone metastases was treated with larotrectinib on a continuous 28-day schedule, at a dose of 100 mg twice daily. An 18FDG-PET/CT scan performed after 7 days of treatment showed tumor shrinkage in both visceral and bone lesions. There was no drug-related toxicity. Subsequent evaluations confirmed continued tumor regression in disease sites. The patient is well and continues treatment.
Conclusion:
The clinical and radiological response of our patient with an uncommon TPM4 (exon 7)-NTRK1 (exon 12) gene fusion tumor treated with a first-generation TRK inhibitor could contribute to a better understanding of the biology of this new STS entity and help to improve patient management.
Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup
Authors: Evelina Miele, Angela Mastronuzzi, Agnese Po, Andrea Carai, Vincenzo Alfano, Annalisa Serra, Giovanna Stefania Colafati, Luisa Strocchio, Manila Antonelli, Francesca Romana Buttarelli, Massimo Zani, Sergio Ferraro, Amelia Buffone, Alessandra Vacca, Isabella Screpanti, Felice Giangaspero, Giuseppe Giannini, Franco Locatelli, Elisabetta Ferretti
Journal: Biomark Res (2015)
Keywords: brca2, fancd1, fanconi anemia, medulloblastoma, shh molecular subgroup
MeSH terms: Case Reports

Fanconi Anemia (FA) is an inherited disorder characterized by the variable presence of multiple congenital somatic abnormalities, bone marrow failure and cancer susceptibility. Medulloblastoma (MB) has been described only in few cases of FA with biallelic inactivation in the tumor suppressor gene BRCA2/FANCD1 or its associated gene PALB2/FANCN. We report the case of a patient affected by Fanconi Anemia with Wilms tumor and unusual presentation of two medulloblastomas (MB1 and MB2). We identified a new pathogenetic germline BRCA2 mutation: c.2944_2944delA. Molecular analysis of MBs allowed us to define new features of MB in FA. MBs were found to belong to the Sonic Hedgehog (SHH) molecular subgroup with some differences between MB1 and MB2. We highlighted that MB in FA could share molecular aspects and hemispheric localization with sporadic adult SHH-MB. Our report provides new findings that shed new light on the genetic and molecular pathogenesis of MB in FA patients with implications in the disease management.
Retrocorneal Scleral Patch Supported Glue: A Technique for Management of Corneal Perforation and Corneoscleral Melt following Pterygium Surgery
Authors: Ashok Sharma, Rajan Sharma, Verinder S Nirankari
Journal: J Ophthalmic Vis Res (2023)
Keywords: cyanoacrylate tissue adhesive, pterygium surgery, scleral necrosis, scleral patch, corneal perforation
MeSH terms: Case Reports

Purpose:
To describe a new method of treatment of corneal perforation with extensive corneoscleral melt.
Case report:
A 42-year-old man presented with moderate-sized (3.5 mm) corneal perforation with extensive corneo-limbo-scleral ulceration following bare sclera excision of pterygium. No prior use of antimetabolites or postoperative beta radiation noted. We considered retrocorneal sclera patch supported cyanoacrylate application. The sclera was thinned to one-third thickness and a patch (4.5 × 4.5 mm) was punched. The sclera patch was placed on the iris, behind the corneal perforation, adequately covering it from inside. A minimal amount of adhesive was applied on the retrocorneal sclera patch and margin of corneal perforation. The ulcerating sclera was covered with double layered amniotic membrane. Topical antibiotic, steroid, and cycloplegic drops were instilled thrice daily. Corneal perforation healed and no recurrence occurred during the 18 months' follow-up.
Conclusion:
Retrocorneal scleral patch supported cyanoacrylate is effective for corneal perforation with corneo-scleral melt.
Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia
Authors: Amit Rawat, Shamsudheen Karuthedath Vellarikkal, Ankit Verma, Rijith Jayarajan, Anju Gupta, Surjit Singh, Anita Chopra, Rajive Kumar, Vinod Scaria, Sridhar Sivasubbu
Journal: F1000Res (2016)
Keywords: b-lymphocytes, bruton's tyrosine kinase, flow cytometry, whole exome sequencing, x-linked agammaglobulinemia

X-linked agammaglobulinemia (XLA) is an extremely rare inherited primary immunodeficiency characterized by recurrent bacterial infections, decrease in number of mature B cells and low serum immunoglobulins. XLA is caused by mutations in the gene encoding Bruton's tyrosine kinase. We report a case of a young Indian boy suspected to have XLA. Immunophenotyping was performed for the affected child using CD20, CD19 and CD3 antibodies. Whole exome sequencing was performed using trio-based approach. The variants were further analyzed using capillary sequencing in the trio as well as maternal grandmother. Initial immunophenotyping in the affected child showed decreased count of CD19+ B cells. To strengthen the clinical findings and confirm the diagnosis of XLA, we performed whole exome sequencing. Our analysis identified a novel frameshift insertion (c.1325dupT) in the BTK gene, which was further validated by Sanger sequencing. Our approach shows the potential in using whole exome sequencing to pinpoint the molecular lesion, enabling timely diagnosis and genetic counseling, and potentially offering prenatal genetic testing for the family.
Laparoscopic Repair for Recurrent Bilateral Inguinal Bladder Hernia following Bilateral Transabdominal Preperitoneal Repair
Authors: Akira Umemura, Takayuki Suto, Hisataka Fujuwara, Seika Nakamura, Hiroyuki Nitta, Takeshi Takahara, Yasushi Hasegawa, Akira Sasaki
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Introduction:
Although a recurrent inguinal hernia is sometimes observed as a supravesical hernia, it is extremely rare to encounter a bilateral bladder sliding hernia recurrence. In this report, we describe an extremely rare case of a recurrent bilateral supravesical bladder hernia after bilateral transabdominal preperitoneal repair (B-TAPP).
Case presentation:
A 69-year-old man visited our hospital with complaints of bilateral groin swelling and frequent voiding after B-TAPP. A plain CT revealed that the urinary bladder was herniating into the bilateral supravesical hernias. He underwent laparoscopic bilateral supravesical bladder hernia repair using a bladder takedown approach and median TAPP.
Discussion:
In Japan, the current mainstream method of hernioplasty is TAPP. However, an immature surgical technique and inadequate mesh placement may increase the risk of recurrent hernias. We successfully repaired this patient's recurrent bilateral supravesical bladder hernias laparoscopically.
Conclusion:
This rare condition (recurrent bilateral supravesical bladder hernias after B-TAPP) was successfully treated by using the bladder takedown approach and median TAPP. During surgical training and later in clinical practice, surgeons should master a surgical technique for this procedure in order to reduce recurrent hernias.
Tumor-to-Tumor Metastasis to Chromophobe Renal Cell Carcinoma: A First Report
Authors: Toshitaka Shin, Tomoko Kan, Fuminori Sato, Hiromitsu Mimata
Journal: Case Rep Urol (2011)
MeSH terms: Case Reports

Tumor-to-tumor metastasis is a rare phenomenon. From our review of the international literature, around 150 cases have been reported since it was first documented by Campbel in 1868. Renal clear cell carcinoma is well known to be the most common recipient of tumor-to-tumor metastasis in all tumors. However, renal chromophobe cell carcinoma has not been reported to be a recipient. Here, we report a first case of colorectal carcinoma metastatic to chromophobe renal cell carcinoma.
Coincidence of HPV11-Positive Urethral Condyloma Acuminatum and HPV-Negative Multiple Bladder Papillomas in a Female
Authors: Natsuko Nakazaki, Masayoshi Zaitsu, Koji Mikami, Shunsuke Yui, Ayumi Kanatani, Takushi Nakatani, Akiko Ito, Yuta Takeshima, Akiko Tonooka, Hideaki Oka, Tomoko Miki, Takumi Takeuchi
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Human papillomaviruses (HPVs) are associated with proliferative lesions in a variety of human epithelial types. A 38-year-old female presented with a diagnosis of urethral condyloma acuminatum. She underwent transurethral resection of the urethral condyloma. At that time, multiple (five) bladder tumors were simultaneously found and also removed by transurethral resection. Four of the bladder tumors were diagnosed as squamous papilloma, and the other was urothelial inverted papilloma. Postoperative course was uneventful. Genomic DNA was extracted from 10 μm thick sections of each bladder tumor as well as urethral condyloma. Then, 16 types of HPV DNA sequences were assessed with the PapiPlex method using genomic DNA samples extracted from each bladder tumor as well as urethral condyloma. HPV-11 was detected in DNA extracted from the urethral condyloma, while no HPV DNA sequences were positive in any of the genomic DNA samples extracted from the bladder tumors.
Staphylococcus aureus bacteremia complicated with non-traumatic mediastinal abscess in children: A case report
Authors: Yiyuan Li, Yu Zhu, Chaomin Wan, Yang Wen
Journal: Front Pediatr (2023)
Keywords: staphylococcus aureus bacteremia, bacteria with unknown origin, healthy children, non-traumatic mediastinal abscess, pediatric
MeSH terms: Case Reports

Background:

Staphylococcus aureus bacteremia complicated with non-traumatic mediastinal abscess rarely occurs in children. Herein, we report a case of S. aureus bacteremia in a previously healthy 15-month-old boy, which was complicated with a non-traumatic mediastinal abscess, followed by recovery without surgery.
Case presentation:
A previously healthy 15-month-old boy presented to the hospital with a high fever, accompanied by chills, lethargy, tachycardia, tachypnea, and slight cough. Contrast-enhanced computerized tomography revealed mediastinal abscess and blood culture analysis showed the presence of S. aureus which was methicillin-susceptible. With prompt initiation of antibiotic treatment, with appropriate duration, the patient successfully recovered without surgical drainage upon discharge.
Conclusions:

Staphylococcus aureus bacteremia complicated with non-traumatic mediastinal abscess is rare in children, and early recognition and appropriate management are essential for a successful outcome.
Surgical Resection of Tracheal Diverticulum with Haemoptysis as Unusual Presentation
Authors: Leonardo Toscano, Daniel Terra, Siul Salisbury, Nicolas Arechavaleta
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Tracheal diverticulum is defined as an air cyst located on the lateral wall, congenital or acquired. Most of them are asymptomatic, incidentally found on CT. The common symptoms are chronic cough, stridor, or recurrent respiratory infections. Asymptomatic diverticulum requires no treatment and managed conservatively while surgical excision is indicated in cases of local complications or symptom permanence. We report a case of tracheal diverticulum presented with haemoptysis, a rare symptom. The diagnosis was made with a CT that shows a 15 mm air image on the right lateral trachea wall. Due to symptoms' persistence, we decide to perform surgery with a good outcome.
Severe Anti- N-Methyl-D-Aspartate Receptor Encephalitis Under Immunosuppression After Liver Transplantation
Authors: Franz Felix Konen, Philipp Schwenkenbecher, Konstantin Fritz Jendretzky, Martin Werner Hümmert, Florian Wegner, Martin Stangel, Kurt-Wolfram Sühs, Thomas Skripuletz
Journal: Front Neurol (2019)
Keywords: epstein-barr virus, anti-nmda receptor encephalitis, autoimmune encephalitis, immunosuppression, liver-transplantation
MeSH terms: Case Reports

Anti-NMDA receptor encephalitis is a rare and often therapy-responsive autoimmune disease that usually affects young adults and causes neuropsychiatric symptoms. Here, we describe a 69-year-old patient who developed anti-NMDA receptor encephalitis while being under adequate immunosuppressive therapy following liver transplantation. Although a broad spectrum of different immunotherapies was applied and anti-NMDA receptor antibody titers gradually decreased, the clinical course could not be affected positively. Autoimmune encephalitis after transplantation is only described in a few cases and not well-recognized. Our case adds further evidence for anti-NMDA receptor encephalitis as the cause of neuropsychiatric symptoms even under immunosuppressive therapy in a post-transplant setting.