OpenMed/multicare-articles huggingface dataset:
An uncommon cause of progressive visual loss in a heavy smoker
Authors: Dimitris Koufakis, Dimitrios Konstantopoulos, Theocharis Koufakis
Journal: Pan Afr Med J (2015)
Keywords: lung cancer, choroid, metastasis
MeSH terms: Choroid Neoplasms / diagnosis, Lung Neoplasms / pathology, Vision Disorders / etiology, Case Reports, Choroid Neoplasms / secondary, Disease Progression, Female, Humans, Lung Neoplasms / diagnosis, Lung Neoplasms / etiology, Middle Aged, Smoking / adverse effects

Loss of vision due to eye metastasis is generally uncommon, representing an ophthalmological diagnostic and therapeutic challenge. We here report a case of a smoker patient finally diagnosed with lung cancer, whose initial symptom was visual loss due to choroidal metastasis. Given that the majority of subjects presenting with uveal metastasis have already developed other distant metastases as well, a complete diagnostic work-up of these patients is always required. Despite being rare, eye metastasis from a lung malignancy should always be suspected in smokers presenting with progressive vision deterioration.
Refractive Lens Exchange Surgery in Early-Onset High Myopia Patients With Partial Cataract
Authors: Xi-Fang Zhang, Xiao-Xia Li, Chen Xin, Brad Kline, Meng-Tian Kang, Meng Li, Li-Ya Qiao, Ning-Li Wang
Journal: Front Med (Lausanne) (2022)
Keywords: axial length, early-onset high myopia, partial cataract, refractive lens replacement surgery, retinal image quality

Purpose:
By reporting clinical characteristics and retinal image quality before and after refractive lens replacement surgery in early-onset high myopia (eoHM) patients presenting with partial cataract, we emphasized the need for an objective way to grade the severity of partial cataracts.
Methods:
This retrospective, consecutive case series included six Chinese patients (nine eyes). Analysis of previous medical records, visual acuity, optometry, retinal image quality, and axial length (AXL) before surgery and after surgery was performed.
Results:
Five females and one male (nine eyes) with a mean (± SD) age of 11.6 ± 7.9 years (range: 4-25 years) were included in this study. The preoperative spherical power ranged from -7.5 to -42 D. The mean follow-up time was 36 months (range: 24-48 months). Phacoemulsification was followed by in-the-bag implantation of intraocular lens. For patients who were under 6 years old, posterior capsulotomy + anterior vitrectomy were performed simultaneously. All surgeries were uneventful and no postoperative complications occurred during the entire follow-up period. All patients' uncorrected visual acuity improved by ≥2 lines postoperatively(Snellen acuity). LogMAR best-corrected visual acuity was improved at 24-month (P = 0.042) and endpoint (P = 0.046) follow-ups. Modulation transfer function cutoff frequency (MTFcutoff) and objective scatter index (OSI) was significantly improved at 12-month (P = 0.025, P = 0.038), 24-month (P = 0.005, P = 0.007) and endpoint (P = 0.005, P = 0.008) follow-ups. Postoperative AXL remained stable during 2-4 year follow-ups (P > 0.05).
Conclusion:
Refractive lens replacement surgery is safe and effective for improving functional vision in eoHM patients presenting with partial cataract. Retinal image quality could provide a useful and objective way to facilitate partial cataract severity evaluation and surgery decision making.
Multidisciplinary management of a fused tooth: a case report
Authors: Derya Demircioglu Guler, Emine Sen Tunc, Nursel Arici, Nilüfer Ozkan
Journal: Case Rep Dent (2013)

Objective. Fusion is a dental anomaly that arises through the union of two adjacent teeth. The case report presents multidisciplinary management of a fused maxillary anterior tooth. Case Report. A 10-year-old boy was referred to the pediatric dental clinic with the chief complaint of a large upper anterior tooth. Intraoral and radiographic examinations indicated fusion between the permanent maxillary right central incisor and a supernumerary tooth. According to the treatment plan, the fused tooth was sectioned, and the mesial portion was removed. The remaining tooth section was restored with composite resin, and the diastema between the central incisors was closed with orthodontic treatment. After an 18-month followup period, the tooth showed no sign of pathosis. Conclusion. The technique described here offers a simple and effective method for restoring a fused tooth that reestablishes function, shape, and esthetics.
Anaplastic Transformation of Papillary Thyroid Cancer in the Retroperitoneum
Authors: James P Solomon, Fang Wen, Lily J Jih
Journal: Case Rep Pathol (2015)

Anaplastic thyroid carcinoma is an aggressive variant of thyroid cancer that in most cases arises from anaplastic transformation of terminally differentiated thyroid carcinomas. This process usually occurs in the thyroid or cervical lymph nodes. Anaplastic transformation in distant metastatic sites is exceedingly rare, only previously documented in a few case reports. We report a rare case of anaplastic transformation of papillary thyroid carcinoma within a large retroperitoneal metastasis in a 64-year-old male 30 years after the initial diagnosis.
Hypocoagulation induced by broad-spectrum antibiotics in extensive burn patients
Authors: Jian Liu, Yiqing Liu, Shengjun Liu, Qin Zhang, Jiexin Zheng, Yiwen Niu, Xuefeng Wang
Journal: Burns Trauma (2019)
Keywords: antibiotic-induced coagulopathy, extensive burns, hypocoagulation, vitamin k deficiency
MeSH terms: Case Reports

Background:
Patients with extensive burns usually develop pro-coagulation soon after the injury if there is no sepsis occurred. We describe the case of an extensive burn adult suffering from hypocoagulation not related to sepsis, but secondary to antibiotic treatment.
Case presentation:
Here, we report a case of an adult male patient suffering from flame burns of 45% total body surface area (40% full thickness) combined with inhalation injury. Hypocoagulopathy with soaring prolonged activated partial thromboplastin time value occurred on third week post-burn while systemic infection had been under control by application of broad-spectrum antibiotics. Investigations showed that not the infection but vitamin K-related coagulation factor deficiency were responsible for unexpected bleeding. However, supplemental vitamin K was not the key as we expected, which prompted us trying to decode the underlying cause of coagulation disturbance in this patient and pick out the most effective treatment for live-saving. After the withdrawal of highly suspected broad-spectrum antibiotic, Meropenem®, disturbed vitamin K related coagulation factors gradually restored to their optimal levels so as to maintain normal coagulation status. Therefore, surgical procedures without further risk of bleeding could be carried out in time for wound recovery. The patient was discharged on post-burn day 67 and transferred to a secondary hospital for his rehabilitation.
Conclusion:
Hypocoagulopathy may be devoted to different reasons other than sepsis in extensive burns. Early recognition of the cause for coagulation disturbance is critical to make appropriate treatment and save patients' lives. This case illustrated the importance of unveiling the mist cause for coagulation disturbance occurred in extensive burn patient, which paved the way for optimal life-saving treatments. And we also recommend burn surgeons to be alerted to antibiotic-induced vitamin K deficiency-related coagulopathy among critical burn patients.
Bladder paraganglioma: a case report
Authors: Gil Falcão, Cabrita Carneiro, Luís Campos Pinheiro
Journal: Pan Afr Med J (2020)
Keywords: bladder paraganglioma, bladder tumor, cystectomy, micturition syncope, transurethral bladder resection
MeSH terms: Paraganglioma / diagnosis, Urinary Bladder Neoplasms / diagnosis, Case Reports, Cystectomy / methods, Humans, Male, Middle Aged, Paraganglioma / complications, Paraganglioma / surgery, Syncope / etiology, Syncope / surgery, Urethra / surgery, Urinary Bladder Neoplasms / complications, Urinary Bladder Neoplasms / surgery

Bladder Paraganglioma is a rare type of bladder tumor (0.06%). It is typically benign and the most common symptoms are hematuria, hypertension and headache. About 14% of these tumors are malign and consequently radio and chemoresistants. Therefore, surgery is the mainstay of treatment. As they are likely to recur and to metastize lifelong follow-up is required. The authors report a rare case of a 53 years old man with hematuria and a previous history of micturition syncope who was diagnosed with bladder lesion. During the transurethral ressection of bladder he became severely hypertensive. Plasma metanephrines, and urinary vanillylmandelic acid, were still high and the exams suggested residual tumor. The patient underwent radical cistoprostatectomy. After 4 years of follow-up the patient remains disease free.
Neurofibromatosis Type I and Stromal Tumor with a Multiple Digestive Localization
Authors: Amina Chaka, Farouk Ennaceur, Mohamed Amine Tormen, Ibtissem Korbi, Faouzi Noomen, Khadija Zouari
Journal: Case Rep Surg (2021)
MeSH terms: Case Reports

Neurofibromatosis type I (NF1) is also known as von Recklinghausen disease. It is a genetic disorder that affects the growth and development of nerve cell tissue, which is characterized by a multisystem disorder and an increased risk for cancer. The incidence of gastroduodenal stromal tumor during Recklinghausen disease can reach 35% in autopsies and 5% in clinical cases. In our case, the diagnosis of neurofibromatosis type I was made in a middle-aged women initially diagnosed with a pancreaticoduodenal tumor.
Case report: Successful and effective percutaneous closure of a deep femoral artery pseudoaneurysm using proglide device
Authors: Liu Jiaxin, Li Yan, Zhang Sheng, Dong Zhiyi, Wang Jichang, Lu Shaoying
Journal: Front Surg (2023)
Keywords: angiography, deep femoral artery, guide wire, proglide, pseudoaneurysm
MeSH terms: Case Reports

A 61-year-old man developed severe swelling in the left lower extremity after interventional embolization of liver tumor. Ultrasound examination showed a pseudoaneurysm and thrombosis in the upper thigh on the left. To recognize the causes and determine the effective therapy, lower extremity arteriography was performed. The results revealed a pseudoaneurysm arised from deep femoral artery. Considering of the size of cavity and symptoms of patient, a new method was tried instead of traditional treatment using PROGLIDE device. Postoperative angiography showed a powerful blocking effect. This case study provide us a specific treatment for pseudoaneurysm, and this method provide us a new therapeutic strategy in clinical practice.
A 13-year-old Caucasian boy with cleidocranial dysplasia: a case report
Authors: Olga-Elpis Kolokitha, Ioulia Ioannidou
Journal: BMC Res Notes (2013)
MeSH terms: Cleidocranial Dysplasia / diagnostic imaging, Adolescent, Cleidocranial Dysplasia / epidemiology, Cleidocranial Dysplasia / genetics, Humans, Male, Radiography, Dental, Radiography, Thoracic, White People

Background:
Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant skeletal disorder. The disorder is caused by heterozygosity of mutations in human RUNX2, which is present on the short arm of chromosome 6p21. The incidence of CCD is one per million births. CCD appears spontaneously with no apparent genetic cause in approximately 40% of affected patients, and one in three patients has unaffected parents. The most prevalent features associated with CCD are aplastic or hypoplastic clavicles, supernumerary teeth, failed eruption of permanent teeth, and a hypoplastic maxilla.
Case presentation:
A 13-year-old Caucasian boy presented with a chief complaint of delayed eruption of the permanent anterior teeth. The patient was subsequently diagnosed with CCD based on the clinical examination, panoramic X-ray, anterior-posterior and lateral cephalogram, and chest radiograph findings. The details of this case are herein reported because of the extremely low incidence of this disorder.
Conclusions:
CCD is of clinical importance in dentistry and medicine because it affects the bones and teeth and is characterized by many changes in skeletal patterning and growth. Particularly in dentistry, CCD is of great clinical significance because is associated with delayed ossification of the skull sutures, delayed exfoliation of the primary teeth, lack of permanent teeth eruption, multiple supernumerary teeth, and morphological abnormalities of the maxilla and mandible. Patients with CCD seek treatment mainly for dental problems. Knowledge of the pathogenesis, clinical characteristics, and diagnostic tools of CCD will enable clinicians to render the appropriate treatment to improve function and aesthetics. Early diagnosis of CCD is crucial for timely initiation of an appropriate treatment approach.
36-year-old female with catastrophic antiphospholipid syndrome treated with eculizumab: a case report and review of literature
Authors: Marianna Strakhan, Mariana Hurtado-Sbordoni, Nahun Galeas, Kamila Bakirhan, Karenza Alexis, Tarek Elrafei
Journal: Case Rep Hematol (2014)

Catastrophic antiphospholipid syndrome (CAPS) is a rare but potentially life-threatening condition characterized by diffuse vascular thrombosis, leading to multiple organ failure developing over a short period of time in the presence of positive antiphospholipid antibodies (aPL). CAPS is a severe form of antiphospholipid syndrome, developing in about 1% of cases of classic antiphospholipid syndrome, manifesting as microangiopathy, affecting small vessels of multiple organs. It is acute in onset, with majority of cases developing thrombocytopenia and less frequently hemolytic anemia and disseminated intravascular coagulation. Lupus anticoagulant and anticardiolipin antibodies have been reported as predominant antibodies associated with CAPS. Treatment options often utilized in CAPS include anticoagulation, steroids, plasma exchange, cyclophosphamide therapy, and intravenous immunoglobulin therapy. Even though the reported incidence of this condition is considered to be low, the mortality rate is approaching 50%. The high rate of mortality should warrant greater awareness among clinicians for timely diagnosis and treatment of this life-threatening condition. Studies have shown that complement activation plays a key role in the pathogenesis of aPL mediated thrombosis in CAPS. We report a case of a 36-year-old female admitted with clinical and laboratory findings consistent with CAPS successfully treated with eculizumab, a terminal complement inhibitor.
Case report of metastatic invasive breast lobular carcinoma to the urinary bladder
Authors: Ahmed A Al Ibraheemi
Journal: Int J Hematol Oncol Stem Cell Res (2016)
Keywords: breast cancer, metastasis, urinary bladder
MeSH terms: Case Reports

Breast cancer is the most common cancer in women except skin cancer. The common metastatic sites include lymph node, lung, liver and bone. However, metastasis to the bladder is extremely rare. To our knowledge, this is the first case of breast cancer metastasis to urinary bladder in Jordan which is reported. Nine years after the initial diagnosis of lobular breast carcinoma, the patient suffered from left side leg edema; Ultrasonography and Computed tomography scanning showed thickening of posterior bladder wall and bilateral hydronephrosis. The biopsy of the bladder confirmed metastatic lesion from the breast. In contrast to the primary tumor, bladder metastasis showed negative expression of estrogen (ER) and progesterone (PR) receptors. However, Her2neu test was negative in both. The reported case confirms that bladder metastasis from breast cancer tend to occur late after the diagnosis of the primary tumor. Furthermore, bladder metastasis can be asymptomatic and heterogeneous in ER and PR expression in comparison with the primary tumor. This report supports the need for careful follow-up and early intervention whenever such clinical situation is suspected. This report supports further evaluation of receptor status at time of metastasis.
Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5
Authors: Shuk Ching Chong, Kam Lun Hon, Fernando Scaglia, Chung Mo Chow, Yu Ming Fu, Tor Wo Chiu, Alexander K C Leung
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

We report two Hong Kong children with severe generalized epidermolysis bullosa simplex (EBS), the most severe form of EBS, without a family history of EBS. EBS is a rare genodermatosis usually inherited in an autosomal dominant fashion although rare autosomal recessive cases have been reported. Genetic studies in these patients showed that the first case was due to a novel de novo heterozygous variant, c.377T>G (NM_000526.5 (c.377T>G, p.Leu126Arg)) in the KRT14 gene and the second case was due to a rare de novo heterozygous variant c.527A>G (NM_000424.4, c.527A>G, p.Asn176Ser) in the KRT5 gene. To our knowledge, the c.377T>G variant in the KRT14 gene has not been previously reported, and the c.527A>G variant in the KRT5 gene is a rare cause of severe generalized EBS. In severe generalized EBS, infants exhibit severe symptoms at the onset; however, they tend to improve with time. A precise genetic diagnosis in these two cases aided in counseling the families concerning the prognosis in their affected children and the recurrence risk for future pregnancies.
Congenital Isolated ACTH Deficiency Caused by TBX19 Gene Mutation: A Family Report
Authors: Cheng Peng, Guoyu Sun, Zezhong Tang, Xinlin Hou
Journal: Front Pediatr (2020)
Keywords: acth, ciad, tbx19, cholestasis, hypoglycemia, seizure
MeSH terms: Case Reports

Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disorder that may be conducive to hypoglycemia, cholestasis, and seizures. We reported on two siblings with a homozygous mutation of the TBX19 gene, C.377 (exon2) C>T, p. P126L. Their parents had heterozygous mutations on the same locus. Glucocorticoid supplementary therapy was effective, but the treatment became delayed due to inaccessibility, which resulted in entirely different clinical outcomes for the siblings. The older brother developed subdural hematoma, intractable epilepsy, and developmental delays. In contrast, the younger sister received timely glucocorticoid replacement therapy and had no long-term complications while maintaining a good quality of life. In summary, when CIAD is confirmed, early intervention is essential to achieve the optimal outcome.
Massive temporal lobe cholesteatoma
Authors: Pasan Waidyasekara, Samuel A Dowthwaite, Ellison Stephenson, Sandeep Bhuta, Brent McMonagle
Journal: Case Rep Otolaryngol (2015)

Introduction. Intracranial extension of cholesteatoma is rare. This may occur de novo or recur some time later either contiguous with or separate to the site of the original cholesteatoma. Presentation of Case. A 63-year-old female presented to a tertiary referral hospital with a fluctuating level of consciousness, fever, headache, and right-sided otorrhoea, progressing over several days. Her past medical history included surgery for right ear cholesteatoma and drainage of intracranial abscess 23 years priorly. There had been no relevant symptoms in the interim until 6 weeks prior to this presentation. Imaging demonstrated a large right temporal lobe mass contiguous with the middle ear and mastoid cavity with features consistent with cholesteatoma. The patient underwent a combined transmastoid/middle fossa approach for removal of the cholesteatoma and repair of the tegmen dehiscence. The patient made an uneventful recovery and remains well over 12 months later. Conclusion. This case presentation details a large intracranial cholesteatoma which had extended through a tegmen tympani dehiscence from recurrent right ear cholesteatoma treated by modified radical mastoidectomy over two decades priorly. There was a completely asymptomatic progression of disease until several weeks prior to this presentation.
Case report: Coexistence of myotonia congenita and Brugada syndrome in one family
Authors: Ann Cordenier, Anja Flamez, Thomy de Ravel, Alexander Gheldof, Luigi Pannone, Carlo De Asmundis, Gudrun Pappaert, Véronique Bissay
Journal: Front Neurol (2022)
Keywords: brugada, clcn1, cardiac arrhythmia, channelopathies, myotonia congenita
MeSH terms: Case Reports

Myotonia congenita is a rare neuromuscular disorder caused by CLCN1 mutations resulting in delayed muscle relaxation. Extramuscular manifestations are not considered to be present in chloride skeletal channelopathies, although recently some cardiac manifestations have been described. We report a family with autosomal dominant myotonia congenita and Brugada syndrome. Bearing in mind the previously reported cases of cardiac arrhythmias in myotonia congenita patients, we discuss the possible involvement of the CLCN1-gene mutations in primary cardiac arrhythmia.
Managing a Case of a Congenital Cystic Eyeball: Case Report with Review of Literature
Authors: Aashish Raj Pant, Rinkal Suwal, Purushottam Joshi, Santosh Chaudhary
Journal: Case Rep Ophthalmol Med (2022)
MeSH terms: Case Reports

A congenital cystic eyeball is an extremely rare condition, with only 52 cases reported in the literature to date. An orbital cyst replaces the eyeball which occurs due to the complete or partial failure in invagination of the primary optic vesicle during the fourth week of gestation. We discuss a case of a congenital cystic eyeball in a 14-year-old female who presented to us for a cosmetic blemish due to a large swelling in the right eyelid with the absence of a right eyeball since birth. She underwent removal of the cyst followed by an orbital implant and later prosthesis. Diagnosis of the congenital cystic eyeball was made based on the clinical and ultrasound B-scan features, intraoperative findings, and histopathology report. This article adds one more case to the existing literature on the congenital cystic eyeball. Orbital implant with prosthesis after excision of the cyst provided definitive diagnosis and a good cosmetic outcome in our case.
Abnormal Adrenal Mass Presents as Proximal Epithelioid Sarcoma
Authors: Valeria Pereira Martinez, Marilin Nicholson, Trushar Patel
Journal: Case Rep Urol (2020)
MeSH terms: Case Reports

Epithelioid sarcoma (ES) is a rare malignant mesenchymal neoplasm that accounts for less than one percent of all soft-tissue sarcomas. Only two cases of ES involving the adrenal gland were found after a literature review. We report a case of an 82-year-old female initially presenting with right flank pain who was subsequently found to have an incidental left adrenal mass on CT imaging. After appropriate diagnostic workup, the patient underwent surgical resection. A diagnosis of ES was made from the histopathological analysis. The characteristic findings of ES are epithelioid cells with rhabdoid morphology and moderate eosinophilic cytoplasm. Immunohistochemical findings are significant for positive staining for epithelial markers, cytokeratins, vimentin, and CD34, and loss of INI-1 stain. Due to the aggressive nature and limited data of ESs, the standard treatment continues to remain wide surgical excision.