OpenMed/multicare-articles huggingface dataset:
Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?
Authors: Daniela Strunk, Peter Weber, Benno Röthlisberger, Isabel Filges
Journal: Mol Cytogenet (2016)
Keywords: 6q16 deletion, autism, grik2, intellectual disability, prdm13
MeSH terms: Case Reports

Background:
Copy number variations play a significant role in the aetiology of developmental disabilities including non-syndromic intellectual disability and autism.
Case presentation:
We describe a 19-year old patient with intellectual disability and autism for whom chromosomal microarray (CMA) analysis showed the unusual finding of two de novo microdeletions in cis position on chromosome 6q16.1q16.2 and 6q16.3. The two deletions span 10 genes, including FBXL4, POU3F2, PRDM13, CCNC, COQ3 and GRIK2. We compared phenotypes of patients with similar deletions and looked at the involvement of the genes in neuronal networks in order to determine the pathogenicity of our patient's deletions.
Conclusions:
We suggest that both deletions on 6q are causing his disease phenotype since they harbour several genes which are implicated in pathways of neuronal development and function. Further studies regarding the interaction between PRDM13 and GRIK2 specifically may be interesting.
Simultaneous Pancreas-Kidney Transplant Complicated by Kidney Allograft Torsion and Pseudoaneurysms of the Y-Allograft: A Case Report and Review of the Literature
Authors: Sarah L Tan, Rachel Y P Tan, Gabrielle Cehic, Michael Wu, John Kanellis, Jeffrey Barbara
Journal: Case Rep Nephrol (2022)
MeSH terms: Case Reports

Background:
We report and review the literature of two rare complications of simultaneous pancreas-kidney transplantation (SPKT) occurring in one patient. Case Report. A 39-year-old man with dialysis-dependent kidney failure secondary to type 1 diabetes mellitus underwent successful SPKT in October 2018. Three months later, he presented with an acute kidney injury (AKI) and returned to dialysis. Kidney scintigraphy showed a central photopenic region, and angiograms showed absent flow in the kidney transplant artery without treatable thrombus and the incidental finding of two pseudoaneurysms of the pancreatic Y-graft. He remained dialysis-dependent for three weeks before spontaneous partial recovery of allograft function; repeat kidney scintigraphy showed significant improvement in perfusion. However, in April 2019 he was readmitted with a sudden deterioration in kidney allograft function again necessitating haemodialysis. Repeat imaging confirmed that the kidney allograft had shifted from the left iliac fossa to the midline. He underwent surgical exploration, during which torsion of the kidney allograft was confirmed and a nephropexy was performed. The kidney allograft was originally implanted in the left retroperitoneum via a midline transperitoneal approach, which likely predisposed it to torsion. The pseudoaneurysms of the pancreatic Y-graft were managed conservatively, and surveillance imaging demonstrated that they remained stable in size. The patient regained reasonable kidney allograft function (estimated glomerular filtration rate, eGFR, of 45 mL/min) and maintained normal pancreatic allograft function.
Conclusion:
Kidney allograft torsion should be considered post-SPKT in patients with AKI and absent arterial flow. Although most case reports describe surgical management of pseudoaneurysms post-SPKT, our case demonstrates successful conservative management.
IgG4-Related Kidney Disease: Report of a Case Presenting as a Renal Mass
Authors: Daniele Bianchi, Luca Topazio, Gabriele Gaziev, Valerio Iacovelli, Pierluigi Bove, Alessandro Mauriello, Enrico Finazzi Agrò
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

IgG4-related disease (IgG4-RD) is a nosological entity defined as a chronic immune-mediated fibro-inflammatory condition characterized by a tendency to form tumefactive, tissue-destructive lesions or by organ failure. Urologic involvement in IgG4-RD has been described in some short series of patients and in isolated case reports, most often involving the kidneys in so-called IgG4-related kidney disease (IgG4-RKD). The disease can occasionally mimic malignancies and is at risk of being misdiagnosed due to its rarity. We report the case of a 56-year-old man presenting with a right renal mass suspected of being malignant. Laboratory tests showed normal creatinine levels, a high erythrocyte sedimentation rate, and high levels of C-reactive protein and microalbuminuria. The patient underwent radical right nephroureterectomy and histopathologic examination revealed features proving IgG4-RKD. He was therefore referred to immunologists. Typical clinical presentation of IgG4-RKD includes altered renal function with inconstant or no radiologic findings. Conversely, in the case we presented, a single nodule was detected upon imaging evaluation, thus mimicking malignancy. This raises the issue of a proper differential diagnosis. A multidisciplinary approach can be useful, although in clinical practice the selection of patients suspected of having IgG4-RKD is critical in the cases presenting with a renal mass that mimics malignancy.
Intertendinous epidermoid cyst of the forearm
Authors: Motomu Suito, Takeshi Kitazawa, Kazuhiro Tsunekawa, Masato Shiba, Tsuneko Ikeda
Journal: Case Reports Plast Surg Hand Surg (2019)
Keywords: epidermoid cyst, deep fascia, epidermal cyst, epidermal inclusion cyst, forearm, giant
MeSH terms: Case Reports

As epidermoid cysts generally originate from hair follicle infundibulum, they appear as intradermal or subcutaneous tumors and are very rare in locations away from the skin. Here, we report a rare case of intertendinous epidermoid cyst of the forearm in a 68-year-old man that was treated surgically.
Case Report: A Well-Hidden Cause for Myelopathy
Authors: Tobias Braun, Eva Schulz, Maxime Viard, Omar AlhajOmar, Tobias Struffert, Stefan Gattenloehner, Mesut Yeniguen, Martin Juenemann
Journal: Front Neurol (2021)
Keywords: bone marrow sarcoidosis, case report, myelopathy, neurosarcoidosis, spinal cord syndrome
MeSH terms: Case Reports

Introduction: Sarcoidosis is a rare, systemic inflammatory disease and can involve multiple organs, especially the lungs and lymph nodes. The nervous system is affected in <10 percent of patients, which is called neurosarcoidosis. Neurosarcoidosis can cause a multitude of symptoms and can mimic various diseases. A rare manifestation is bone marrow involvement. We describe a case of spinal cord syndrome due to myelopathy that was caused by sarcoidosis of the bone marrow. Case Presentation: A male patient presented to our hospital with incomplete spinal cord syndrome. He suffered from numbness of the legs which had progressed to severe paraparesis. Magnetic resonance imaging revealed thoracic myelopathy without contrast enhancement. Thorough diagnostics found no explanation for the myelopathy, and the patient was treated symptomatically with high-dose steroids. When the patient developed non-resolving leukopenia, a bone marrow biopsy was performed. The bone marrow showed changes due to sarcoidosis. Further testing revealed myocardial involvement of the sarcoidosis. The patient was started on oral prednisolone and methotrexate. Over the course of time, his symptoms improved, but he still suffers from spastic leg paresis and needs aids to walk farther than 1 kilometre. Conclusion: In patients presenting with neurological deficits of unknown cause, neurosarcoidosis is a potential explanation. If it manifests primarily in the bone marrow, the diagnosis can be easily overlooked. Abnormalities in a full blood count should make the treating physician consider this diagnosis, and a bone marrow biopsy should be performed.
Charles Bonnet Syndrome Related to a Pituitary Adenoma: A Case Study in a Tunisian Woman
Authors: Haifa Ghabi, Amira Maamri, Ahlem Hajri, Haifa Zalila
Journal: Case Rep Psychiatry (2023)
MeSH terms: Case Reports

According to the International Statistical Classification of Diseases and Related Health Problems 11th Revision (ICD-11) definition, "Charles Bonnet Syndrome" (CBS) refers to the experience of complex visual hallucinations in a person who has experienced a partial or complete loss of vision. Pituitary adenoma is a rare situation that may be associated with CBS. We report a case of CBS in a Tunisian 44-year-old female with pituitary macroadenoma. The patient reported visual hallucinations which persisted after transsphenoidal adenomectomy. She had no prior psychiatric history. She did not take any medication that could produce hallucinations. After Olanzapine initiation, hallucinations were completely resolved. It is the first Tunisian case of CBS reported in English language. This peculiar condition seems to be under-recognized in our country. Clinicians should be aware that visual hallucinations may concern patients without psychiatric disorders.
Quantitative assessment of inter-observer variability in target volume delineation on stereotactic radiotherapy treatment for pituitary adenoma and meningioma near optic tract
Authors: Hideya Yamazaki, Hiroya Shiomi, Takuji Tsubokura, Naohiro Kodani, Takuya Nishimura, Norihiro Aibe, Hiroki Udono, Manabu Nishikata, Yoshimi Baba, Mikio Ogita, Koichi Yamashita, Tadayuki Kotsuma
Journal: Radiat Oncol (2011)
MeSH terms: Adenoma / surgery, Meningioma / surgery, Pituitary Neoplasms / surgery, Radiosurgery / methods, Radiotherapy Planning, Computer-Assisted / methods, Radiotherapy Planning, Computer-Assisted / statistics & numerical data, Tumor Burden, Visual Pathways / pathology, Case Reports, Evaluation Study, Multicenter Study, Adenoma / pathology, Female, Humans, Image Interpretation, Computer-Assisted / standards, Male, Middle Aged, Observer Variation, Organ Size, Organs at Risk / pathology, Pituitary Neoplasms / pathology

Background:
To assess inter-observer variability in delineating target volume and organs at risk in benign tumor adjacent to optic tract as a quality assurance exercise.
Methods:
We quantitatively analyzed 21 plans made by 11 clinicians in seven CyberKnife centers. The clinicians were provided with a raw data set (pituitary adenoma and meningioma) including clinical information, and were asked to delineate the lesions and create a treatment plan. Their contouring and plans (10 adenoma and 11 meningioma plans), were then compared. In addition, we estimated the influence of differences in contouring by superimposing the respective contours onto a default plan.
Results:
The median planning target volume (PTV) and the ratio of the largest to the smallest contoured volume were 9.22 cm3 (range, 7.17-14.3 cm3) and 1.99 for pituitary adenoma, and 6.86 cm3 (range 6.05-14.6 cm3) and 2.41 for meningioma. PTV volume was 10.1±1.74 cm3 for group 1 with a margin of 1-2 mm around the CTV (n=3) and 9.28±1.8 cm3 (p=0.51) for group 2 with no margin (n=7) in pituitary adenoma. In meningioma, group 1 showed larger PTV volume (10.1±3.26 cm3) than group 2 (6.91±0.7 cm3, p=0.03). All submitted plan keep the irradiated dose to optic tract within the range of 50 Gy (equivalent total doses in 2 Gy fractionation). However, contours superimposed onto the dose distribution of the default plan indicated that an excessive dose 23.64 Gy (up to 268% of the default plan) in pituitary adenoma and 24.84 Gy (131% of the default plan) in meningioma to the optic nerve in the contours from different contouring.
Conclusion:
Quality assurance revealed inter-observer variability in contour delineation and their influences on planning for pituitary adenoma and meningioma near optic tract.
Ultrasound Findings in a Neonate During Anaphylactic Reaction to Total Parenteral Nutrition: A Case Report
Authors: Linah H Zaman, Haroon A Javaid, Nader A Fawzy, Safwan Abbasi, Usama I Othman, Samira M Ghallab, Nabil Shehata
Journal: Cureus (2023)
Keywords: anaphylaxis, neonatal intensive care unit (nicu), neonate, total parenteral nutrition (tpn), ultrasound (u/s)
MeSH terms: Case Reports

Total parenteral nutrition (TPN) is the intravenous delivery of nutrients and is commonly used in the Neonatal Intensive Care Unit (NICU). Hypersensitivity reactions to parenteral nutrition have seldom been described in the literature. Anaphylaxis is a potentially life-threatening emergency condition that can progress rapidly and involves multiple organ systems. We report a case of anaphylaxis due to TPN in a neonate with observed ultrasound findings during the acute episode never reported in the literature before.
Primary malignant pericardial mesothelioma: a case report
Authors: Sameh Ben Farhat, Maroua Salah, Sami Milouchi
Journal: Pan Afr Med J (2020)
Keywords: pericardial effusion, malignancy, pericardial mesothelioma
MeSH terms: Heart Neoplasms / diagnosis, Mesothelioma, Malignant / diagnosis, Pericardial Effusion / diagnosis, Case Reports, Adult, Delayed Diagnosis, Diagnosis, Differential, Female, Heart Neoplasms / complications, Humans, Mesothelioma, Malignant / complications, Pericardial Effusion / etiology, Pericardial Effusion / pathology, Pericarditis / diagnosis, Pericarditis / etiology, Pericardium / pathology, Radiography, Thoracic, Tachycardia / diagnosis, Tachycardia / etiology

Metastases to the heart and pericardium are much more common than primary malignant neoplasms. Primary malignant pericardial mesothelioma is a rare tumor that arises from the mesothelial cells of the pericardium. It is usually characterized by a delayed diagnosis, a low response to treatment, and a poor prognosis with an overall survival up to six months after the onset of symptoms. We report a rare case of a 32-year-old woman with primary pericardial malignant mesothelioma that was diagnosed 4 months after the onset of pericardial effusion as the first clinical manifestation.
A case report-"When less is more": controlled inpatient reduction of anticholinergic burden in a patient with clozapine-resistant schizophrenia
Authors: Milica Pjevac, Liam Korošec Hudnik
Journal: Front Psychiatry (2023)
Keywords: anticholinergic burden, clozapine blood level monitoring, cognition, delirium, treatment-resistant schizophrenia
MeSH terms: Case Reports

The functional status of an individual with schizophrenia is the defining factor in their quality of life and is closely associated with cognitive abilities, which are impaired in individuals with schizophrenia and considered to be the core symptom of the disorder. The use of psychopharmacotherapy can also have a significant impact on cognitive functioning. The relationship between clozapine treatment and cognitive impairment in individuals with schizophrenia is an intricate one. While some studies have reported a positive effect of clozapine on learning and memory, other studies have found that patients treated with clozapine experienced a decline in cognitive functioning in particular areas. In particular, attention and memory have been shown to deteriorate with rising plasma levels of clozapine. This effect may be attributed to its anticholinergic effect. A reduction in the medication related to anticholinergic burden has been previously found to improve cognitive abilities. In the presented case, we describe a psychotic relapse with delirium symptoms in a patient on clozapine treatment with potentially toxic clozapine blood level. The symptoms of delirium subsided after a clozapine dose adjustment. Gradually lowering the initially very high anticholinergic burden improved the patient's cognitive functioning.
Neglected puerperal inversion of the uterus: ignorance makes acute a chronic form
Authors: Sardha Minakshi, Atri Shivani, Anjum Arshad
Journal: Pan Afr Med J (2012)
Keywords: inversion of uterus, acute puerperal inversion, neglect, post partum bleeding, shock
MeSH terms: Delivery, Obstetric / adverse effects, Puerperal Disorders / pathology, Uterine Inversion / pathology, Case Reports, Review, Delivery, Obstetric / methods, Endometritis / etiology, Endometritis / pathology, Female, Humans, Midwifery / education, Midwifery / standards, Pregnancy, Puerperal Disorders / etiology, Puerperal Disorders / surgery, Recurrence, Rural Health Services / standards, Uterine Inversion / etiology, Uterine Inversion / surgery, Young Adult

Inversion of uterus is a rare complication of vaginal delivery. The reported incidence of puerperal inversion varies from approximately 1 in 550 to 1 in several thousand normal deliveries. Maternal mortality has been reported to be as high as 15%, mainly because of associated life threatening blood loss and shock. Early diagnosis, prompt and aggressive management decrease the morbidity and mortality to minimal. We report a case of 21 year old primi, who presented to us with uterine inversion after delivery at a rural set up by untrained birth attendant ("Dai"). She was managed surgically with Haultain's operation and discharged after 5 days. She didn't turn up for follow up and was readmitted after 4 weeks with uterine reinversion associated with endometritis. A recent case is described, followed by a short review of literature.
Amelanocytic anorectal malignant melanoma-Case report
Authors: Marta Serra, Teresa Santos, Margarida Martins, Leonor Sardo
Journal: Int J Surg Case Rep (2019)
Keywords: abdominal perineal resection, amelanocytic, anorectal malignant melanoma, case report, surgery, wide local excision

Introduction:
Anorectal malignant melanoma (AMM), is a rare and aggressive form of melanoma. Accounts for <2% of melanomas, and <2% of anal tumors. It is more frequent at the 6th-7th decade, mostly in women. Surgery is the mainstay of treatment, but the extent is controversial.
Case presentation:
82-year-old male, presented with rectal mass in the Emergency Room (ER). After local excision, pathology observed that the mass corresponded to AMM. Despite being stage I (Local disease), a year later it presented with local recurrence and distant metastasis. The patient died 32 months after diagnosis.
Conclusions:
There is no optimal treatment, due to the lack of prospective studies. Wide local excision (WLE) has faster recovery, less post-operatory complications and similar survival rate compared to abdominal perineal resection (APR).
Excision of Basal cell carcinoma with radio frequency ablation
Authors: Sukhdeo Patidar
Journal: J Cutan Aesthet Surg (2008)
Keywords: ablation, basal cell carcinoma, radiofrequency
MeSH terms: Case Reports

Basal cell carcinoma is usually treated by excision, or by ablative methods such as cryosurgery and laser. We describe treament of basal cell carcinoma by radiofrequency device.
Posttraumatic Pseudoarthrosis of a Clavicle Fracture in an 11-Year-Old Girl: A Case Report and Analysis
Authors: Marco Odorizzi, Maurice FitzGerald, Jorge Gonzalez, Dario Giunchi, Flurim Hamitaga, Vincenzo De Rosa
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Clavicular fractures are some of the most common bone injuries in the paediatric population, yet the rates of nonunion are very low under 18 years. To the best of our knowledge, posttraumatic nonunion of the clavicle in a paediatric population is rarely reported. We report the case of an 11-year-old girl who presented with a nondislocated fracture of the midshaft to the proximal third of the right clavicle. Initial conservative treatment by sling immobilization demonstrated radiologically confirmed healing at 3 months. However, at 1-year follow-up, she presented with painful nonunion. Diagnostic MRI and CT exams confirmed a pseudoarthrosis, requiring elective open reduction and internal fixation with the aid of an ipsilateral iliac crest bone graft.
Retinal vascular tortuosity in a patient with weill-marchesani syndrome
Authors: Kevin Gallagher, Tahrina Salam, Barron Sin, Sandy Gupta, Hadi Zambarakji
Journal: Case Rep Ophthalmol Med (2011)
MeSH terms: Case Reports

Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder with characteristic phenotypic skeletal and ocular manifestations. A 28-year-old myopic female presented with an 8-month history of bilateral blurred vision. On examination, she was noted to be of short stature with brachydactyly. On ocular examination, she was found to be spherophakic with bilateral inferiorly subluxated lenses. Serum and urine homocysteine were normal and a syphilis screen was negative. A diagnosis of Weill-Marchesani syndrome was made. Fundoscopy revealed bilateral tortuous retinal vessels. We report the first illustrated case of retinal vascular tortuosity as an ocular manifestation of Weill-Marchesani syndrome.
Distressing Visual Hallucinations after Treatment with Trazodone
Authors: Gustavo Santos, Ana Maria Moreira
Journal: Case Rep Psychiatry (2017)
MeSH terms: Case Reports

Trazodone, a second-generation atypical antidepressant, is increasingly being used off-label, in the treatment of insomnia. Although generally well tolerated, trazodone treatment can be associated with some complications. We describe a case of a 60-year-old man who received trazodone for primary insomnia. He returned, to the emergency department, two days later with distressing visual hallucinations, which prompted inpatient treatment. Trazodone was discontinued, leading to a complete resolution of his visual hallucinations, and he was treated with mirtazapine for 6 months. There has been no relapse in a follow-up period of two years. Patients presenting with visual hallucinations without significant psychiatry history can be a challenging situation. We highlight the importance of careful anamnesis with an accurate medication history. Given the widespread use of trazodone, clinicians should be aware of this possible side effect.
A case of gingival candidiasis with bone destruction on gastric cancer patient receiving cytotoxic chemotherapy
Authors: Seungtaek Lim, Tae-Jun Kil, Hye Ryun Kim, Seonhui Han, Sun Young Rha
Journal: Case Rep Oncol Med (2014)

We herein report a case of gingival candidiasis in an advanced gastric cancer patient while receiving palliative cytotoxic chemotherapy. A 46-year-old male patient admitted to our hospital for known advanced gastric cancer with newly developed multiple liver metastases. While receiving 2nd line cytotoxic chemotherapy with 5FU, leucovorin, and paclitxel, he complained of gingival swelling accompanied by pain and whitish plaque. Due to lack of response to the conservative oral care, incisional biopsy of gingiva was done and the pathology confirmed gingival candidiasis. Although the lesion healed apparently after two-week antifungal therapy, pain as well as bony destruction remains. By presenting this case report, we intend to emphasize the immunocompromising effect of cancer while being on systemic chemotherapy.