OpenMed/multicare-articles huggingface dataset:
Huge giant cell tumor of the sacrum: A case report
Authors: Li-Feng Qin, Dan Peng, Li-Hua Qin, Min Xu, Han Fang, Qing Zhang
Journal: Oncol Lett (2014)
Keywords: s2 nerve root, chordoma, giant cell tumor, rectum, sacral tumor, urinary and bowel function

The current report describes the case of a 29-year-old female with a sacral giant cell tumor (GCT) during pregnancy. Originally, the patient presented with severe pain in the lumbosacral region, radiating posterolaterally from the lumbar spine into the bilateral thigh and subsequently, into the bilateral crus posterolaterally. Plain X-rays, computed tomography and magnetic resonance imaging showed osteolytic destruction of the sacrococcygeal bones and a huge soft-tissue mass with features of a chordoma. The patient underwent a partial en bloc sacrectomy (partial S1 and completely below) and curettage for tumors located at the sacroiliac joint and underlying left ilium, with bilateral internal iliac arteries ligated to control intraoperative hemorrhage. The patient's bilateral S2 nerve roots were killed. The diagnosis of conventional GCT was determined based on the histopathological examination of the resected specimen. Urinary and bowel functions were recovered by exercising.
Cytogenetic and clinical assessment of a family with treacher collins syndrome
Authors: Manoj Kumar, Rakesh Kumar, Mukesh Tanwar, Supriyo Ghose, Jasbir Kaur, Rima Dada
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder characterized by craniofacial deformities. It is the most common type of mandibulofacial dysostosis (MFD). The objective of this study is to do cytogenetic analysis of a TCS family. Physical examination and all available medical records were reviewed. 50 GTG-banded metaphases were analysed to detect any structural or numerical chromosomal abnormality. Downward slanting of palpebral fissures, hypoplasia of zygomatic arch complex, and hypoplasia of mandible were present in all. Cytogenetic findings show interstitial deletion in chromosomes 5(q32-q33) and 3(q23-q25). We report four members of three generations of a family having TCS in a unique way that the deletion has been found in 3q and 5q which has not been reported. Mosaicism of deletion on 5q was detected in all affected members whereas 3q deletion was found only in one member (II.2). This finding may represent a more severe manifestation of the TCS. Thus the evaluation and counselling of the TCS patients should be undertaken with caution.
Progressive dyspnea in patient with large mediastinal mass
Authors: Shinichi Fukuhara, Kamellia R Dimitrova, Charles M Geller, Darryl M Hoffman, Wilson Ko, Robert F Tranbaugh
Journal: J Cardiothorac Surg (2014)
MeSH terms: Dyspnea / etiology, Liposarcoma / complications, Mediastinal Neoplasms / complications, Case Reports, Aged, Diagnosis, Differential, Disease Progression, Dyspnea / diagnosis, Dyspnea / surgery, Humans, Liposarcoma / diagnosis, Liposarcoma / surgery, Magnetic Resonance Imaging, Male, Mediastinal Neoplasms / diagnosis, Mediastinal Neoplasms / surgery, Radiography, Thoracic, Severity of Illness Index, Sternotomy / methods, Tomography, X-Ray Computed

Liposarcoma occurs very rarely in the mediastinum. Patients often remain asymptomatic until it grows large enough to cause direct invasion or compression of adjacent organs. We report a case of a 77-year-old male presented with dyspnea of exertion and was found to have a large mediastinal mass which was eventually diagnosed as primary mediastinal well-differentiated liposarcoma. The limited respiratory function at the initial presentation prompted phrenic nerve preserving incomplete resection rather than radical removal of the adjacent mediastinal structures. After surgical removal, the recurrence for well-differentiated mediastinal liposarcomas in the mediastinum is unknown; therefore, close follow-up is crucial.
Case report: Hydrometrocolpos conditioning recurrent urinary tract infections
Authors: Ewelina Malanowska, Mariola Krzyścin, Elzbieta Sowińska-Przepiera, Andrzej Starczewski, Tadeusz Sulikowski, Matteo Balzarro, Emanuele Rubilotta
Journal: Front Surg (2022)
Keywords: adolescent gynecology, hydrometrocolpos, recurrent urinary tract infections (ruti), translabial ultrasound, vaginal septum
MeSH terms: Case Reports

We present a case of a 12.5-year-old girl who has suffered from recurrent urinary tract infections for many years but has never undergone a detailed diagnostic process. Only as a teenager did she complain of acute pain in her lower abdomen and it turned out that her genital organs had not properly developed. She had an obstructive defect in the reproductive tract. When there was a significant amount of discharge collected in the lumen of the genital tract and the organs had distended, acute pain appeared, which allowed us to make the diagnosis. In the diagnostic process, transperineal ultrasonography turned out to be extremely helpful, allowing us to establish the type and thickness of the obstruction. The patient underwent excision of transverse vaginal septum, and postoperative silicon dilators were used to prevent the recurrence of the obstruction. There was no recurrence of urinary infection or complications during the 11 months of follow-up.
An Unusual Cause of Epistaxis: Paranasal Sinus Myeloid Sarcoma
Authors: Karuna Dewan, John H Baird, Courtney B Shires
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

We report a case of a 65-year-old female who presented with right-sided headaches, blurring of vision in the right eye, cold-induced epistaxis, and facial numbness in the trigeminal nerve distribution. Laboratory studies revealed a significant number of myeloblasts on peripheral smear with granulated cytoplasm, irregular nuclei, and prominent vacuoles. Magnetic resonance imaging (MRI) of the brain demonstrated a T1-enhancing 1.5 cm right-sided dural-based lesion involving the medial sphenoid wing, cavernous sinus, infratemporal fossa, and sphenoid sinus region. An endoscopic biopsy of the lesion within the sphenoid sinus confirmed the diagnosis of myeloid sarcoma, with myeloblasts comprising 30% of cellularity by flow cytometry. A subsequent bone marrow biopsy revealed a hypercellular marrow with 23% blasts by flow cytometry that demonstrated a similar immunophenotypic pattern to those seen in the sinus mass. Fluorescence in situ hybridization (FISH) testing revealed the balanced translocation t(8;21)(q22;q22.1), consistent with a diagnosis of acute myeloid leukemia with RUNX1-RUNX1T1-balanced translocation by WHO 2016 criteria. Myeloid sarcoma represents a rare extramedullary presentation of acute myeloid leukemia (AML), either alone or in conjunction with blood or bone marrow involvement. This case emphasizes the need for a broad differential diagnosis and an aggressive work-up for any unusual paranasal sinus mass.
Ataxia and Encephalitis in a Young Adult with EBV Mononucleosis: A Case Report
Authors: Rashid S Hussain, Naaz A Hussain
Journal: Case Rep Neurol Med (2013)

Neurological manifestations of mononucleosis are extremely rare, occurring in about 1% of all cases. However, when they occur, appropriate treatment must be undertaken to ensure appropriate symptomatic management and reduce morbidity. We present the case of a 25-year-old graduate student with weeklong complaints of fever, sore throat, fatigue, nausea, and "dizziness." She later developed increased sleep requirements, ataxia, vertigo, and nystagmus with a positive EBV IgM titer confirming acute infectious mononucleosis. The patient was clinically diagnosed with EBV-associated cerebellitis and encephalitis, displaying neurological and psychiatric impairment commonly seen in postconcussion syndrome. MRI showed no acute changes. She was started on valacyclovir and a prednisone taper, recovering by the end of twelve weeks. Though corticosteroids and acyclovir are not recommended therapy in patients presenting with EBV-associated ataxia, clinicians may want to keep a low threshold to start these medications in case more serious neurological sequelae develop.
A Rare Manifestation of Asymptomatic Ebstein's Anomaly with Tricuspid Valve Endocarditis
Authors: Carmel Moazez, Vicken Zeitjian, Christian Breburda, Ranjini Roy
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

Ebstein's anomaly is a rare congenital heart disease that presents with apical displacement of the septal and posterior leaflets of the tricuspid valve. It has a wide spectrum of clinical presentations and has been shown to manifest itself any time from birth to adulthood. Our patient is a 43-year-old male with a history of intravenous heroin abuse who presented to the emergency department with worsening shortness of breath and lower extremity edema. He denied any prior cardiac history. A transthoracic echo showed normal left ventricular function, but a large 2.2 × 2.1 cm echodensity on the septal leaflet of the tricuspid valve consistent with vegetation with severe tricuspid regurgitation and probable leaflet perforation. It also demonstrated severe right heart enlargement with atrialization of the right ventricle and apical displacement of the tricuspid valve consistent with Ebstein's anomaly. This is a rare case of an adult who presented with asymptomatic Ebstein's anomaly. There have been few reports of tricuspid valve endocarditis with Ebstein's anomaly in the literature. To our knowledge, this represents the fifth reported case of a new diagnosis of Ebstein's anomaly in the setting of endocarditis and the second case of Ebstein's anomaly and endocarditis in an intravenous drug abuser.
Extranodal Rosai-Dorfman Disease Presenting as a Mediastinal Mass with Pulmonary Artery Invasion
Authors: Andrew R Orr, Daniel Lefler, C Deshpande, Pallavi Kumar
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

Rosai-Dorfman disease (RDD) is a rare, nonmalignant disorder of histiocyte proliferation typically involving the cervical lymph nodes. However, a subset of patients with RDD will display extranodal manifestations that are highly variable in presentation, more challenging to diagnose, and less likely to spontaneously regress compared to nodal disease. While case reports of extranodal involvement in nearly every organ system exist, documented instances of mediastinal and pulmonary artery involvement are particularly rare. This study describes the case of a middle-aged woman presenting with new onset right heart failure who was found to have extranodal RDD in the form of a large mediastinal mass with invasion and occlusion of the main pulmonary arteries.
A rare form of melanoma masquerading as a diabetic foot ulcer: a case report
Authors: Susan Thomas, Yuan-Xiang Meng, Vijaykumar G Patel, Gregory Strayhorn
Journal: Case Rep Endocrinol (2012)
MeSH terms: Case Reports

Background. Acral lentiginous melanoma (ALM) is a less-common form of melanoma in US, and it accounts for about 5% of all diagnosed melanomas in US. ALM is often overlooked until it is well advanced because of the lesion's location and its atypical appearance in the early stages. We present a case of ALM initially presented as a diabetic foot ulcer. Case Report. An 81-year-old man initially presented to the primary care clinic with a right foot diabetic ulcer. There was a large plantar, dark-colored ulcer that bled easy. Initial excision biopsy revealed Clark's Level IV ALM. Subsequent definitive wide excision and sentinel node biopsy confirmed ALM with metastasis to inguinal lymph nodes (stage IIIb). The treatment included wide margin excision of the lesion with en bloc amputations of 4th and 5th toes, followed by adjuvant chemotherapy. Discussion. The development of ALM may potentially relate to diabetes as a reported higher prevalence of diabetes with ALM patients. Conclusion. The difficulty in early diagnosing of ALM remains as a formidable challenge particularly in diabetic patients who commonly develop plantar foot ulcers due to the diabetic neuropathy. This case reiterates the importance of a thorough foot exam in such patients.
Thermoformed Retainer: An Effective Option for Long-Term Stability
Authors: A Giancotti, P Mozzicato, G Mampieri
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Introduction:
The concept of orthodontic retention is moving toward the idea that teeth will move unless retained indefinitely. However, permanent retention implies permanent supervision, and that is where reality clashes with stability. The cornerstone of Essix permanent retention is the complete delegation of responsibility to the patient. Essix retainers have nothing to adjust, but maximum collaboration of the patient is essential to achieve long-term stability. The purpose of this paper is to show the effectiveness of the thermoplastic appliance as a retainer, using a clinical case with a 10-year follow-up. Case Report. A 33-year-old male patient presented with a class II malocclusion division 2 and normal skeletal pattern. According to the patient's desire, a treatment plan was proposed to obtain the aesthetic result of the smile, maintaining the molar and canine class II relationship. The orthodontic therapy was performed by using the Invisalign System. In this case, it was possible to appreciate a posterior occlusal stability after 10 years.
Conclusion:
Currently, among orthodontists, the use of removable plastic devices is gaining popularity thanks to their capability to encapsulate and retain both posterior and anterior teeth. In this article, the technical features of thermoformed retainers will be described and one clinical case with a 10-year follow-up will be presented to emphasize the effectiveness of these retainers.
Malignant triton tumor of the anterior mediastinum: A case report
Authors: Wei Ren, Xinyun Xu, Jing Yan, Xiaoping Qian, Baorui Liu
Journal: Oncol Lett (2014)
Keywords: malignant peripheral nerve sheath tumor, malignant triton tumor, mediastinum

Malignant triton tumors (MTTs) are a rare subtype of malignant peripheral nerve sheath tumor (MPNST) showing rhabdomyoblastic differentiation, which have no treatment consensus and a poor prognosis. This case report presented the case of a 42-year-old male patient with a large MTT located in the anterior mediastinum. The patient underwent palliative chemoradiotherapy and interstitial chemotherapy and received traditional Chinese medicine. Localization of an MTT in the anterior mediastinum is extremely rare. To the best of our knowledge, this is only the fourth study of an MTT localized in the anterior mediastinum that has been documented in the English literature.
Fanconi anemia manifesting as a squamous cell carcinoma of the hard palate: a case report
Authors: Giulio Gasparini, Gianluigi Longobardi, Roberto Boniello, Alessandro Di Petrillo, Sandro Pelo
Journal: Head Face Med (2006)
MeSH terms: Carcinoma, Squamous Cell / diagnosis, Fanconi Anemia / diagnosis, Palatal Neoplasms / diagnosis, Palate, Hard, Case Reports, Adult, Biopsy, Carcinoma, Squamous Cell / surgery, Diagnosis, Differential, Follow-Up Studies, Humans, Male, Oral Surgical Procedures / methods, Palatal Neoplasms / surgery, Tomography, X-Ray Computed

Fanconi anemia is a rare autosomal recessive disorder characterized by various congenital malformations, progressive bone marrow failure at a very young age and of solid tumors development. The authors present a rare case of a squamous cell carcinoma of the hard palate in a Fanconi Anaemia patient. The atypical clinical manifestation rendered the diagnosis more difficult. This case, for age of appearance, sex and localization, is unique in international literature. We recommend a quarterly follow up of the oral-rhino-pharynx complex in FA patients and to consider as carcinomas, all oral lesions that last more than two weeks.
"Black Esophagus" or Gurvits Syndrome: A Rare Complication of Diabetic Ketoacidosis
Authors: Vivek Choksi, Kairavee Dave, Rulz Cantave, Sameer Shaharyar, Jeevan Joseph, Uday Shankar, Steven Kaplan, Hamid Feiz
Journal: Case Rep Gastrointest Med (2017)
MeSH terms: Case Reports

Acute esophageal necrosis (AEN) also known as "black esophagus" or necrotizing esophagitis is a rare syndrome characterized by a striking diffuse patchy or circumferential black appearance of the esophageal mucosa that preferentially affects the distal esophagus and terminates at the gastroesophageal junction. Only 88 patients over a span of 40 years have received this diagnosis, and the prevalence of this disease ranges from 0.001 to 0.2% of cases in literature. It more commonly affects men (4 : 1 ratio) in the sixth decade of life. It is associated with a high mortality rate, approaching 32%. We report a case of AEN presenting in the setting of diabetic ketoacidosis (DKA), affecting both the proximal and distal esophagus.
Buccal region's Kimura disease in a pediatric patient: A case report and review of the literatture
Authors: Ahmedou Ahmed Brahim, Omar Iziki, Reda Abada, Roubal Mohamed, Mahtar Mohamed
Journal: Int J Surg Case Rep (2020)
Keywords: kimura disease, oral cavity, pediatric patient, surgical resection, systemic steroid therapy
MeSH terms: Case Reports

Introduction:
Kimura disease is a chronic inflammatory disorder that mainly manifests as a swelling in the neck region AlGhamdi et al. (2016). However, its occurrence in the oral cavity is extremely rare Lee et al. (2017). It usually affects young men of Asian race but it is rare in other races Fouda et al. (2010). We report an extremely rare case of Kimura disease of the buccal region in a pediatric patient. The treatment consists of surgery combined with systemic steroid therapy.
Discussion:
The etiology of KD is unknown. Although the presence of eosinophilia and increased IgE, tumor necrosis factor (TNF)-a, interleukin (IL)-4, IL-5, IL-13 levels, and mast cells in peripheral blood, as well as in the affected tissue, were observed in patients Sun et al. (2008). No specific antigens have been identified. The optimal management strategy for KD has not yet been established. The treatment is variable Fouda et al. (2010) and Su et al. (2019). It includes surgical excision, regional, or systemic steroid therapy, and radiotherapy Sun et al. (2008).
Conclusion:
KD is a rare chronic inflammatory disorder of unknown etiology Fouda et al. (2010) and Kim and Szeto (1937). The diagnosis can be only confirmed by histopathological features.
Acute inflammatory demyelinating polyneuropathy and a unilateral babinski/plantar reflex
Authors: Davide Cattano, Brian O'connor, Ra'ad Shakir, Francesco Giunta, Mark Palazzo
Journal: Anesthesiol Res Pract (2008)
MeSH terms: Case Reports

Acquired acute demyelinating peripheral polyneuropathy (AADP) is a general classification of pathologies that could affect secondary the peripheral nervous system. They are characterized by an autoimmune process directed towards myelin. Clinically they are characterized by progressive weakness and mild sensory changes. Acute inflammatory demyelinating polyneuropathy often is referred to as Guillain-Barré syndrome (GBS). GBS is the major cause of acute nontraumatic paralysis in healthy people and it is caused by autoimmune response to viral agents (influenza, coxsackie, Epstein-Barr virus, or cytomegalovirus) or bacterial infective organisms (Campylobacter jejuni, Mycoplasma pneumoniae). A detailed history, with symptoms of progressive usually bilateral weakness, hyporeflexia, with a typical demyelinating EMG pattern supports the diagnosis. Progressive affection of respiratory muscles and autonomic instability coupled with a protracted and unpredictable recovery normally results in the need for ICU management. We present a case report of a patient with a typical GBS presentation but with a unilateral upgoing plantar reflex (Babinski sign). A unifying diagnosis was made and based on a literature search in Pubmed appears to be the first described case of its kind.
Neutropenic Enterocolitis Disclosing an Underlying Cyclic Neutropenia
Authors: Fatima Ezzahra Lahlimi, Khawla Khalil, Soumia Lahiaouni, Illias Tazi
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

Neutropenic enterocolitis is a syndrome characterized by fever and abdominal pain in a neutropenic patient. It is often reported in children treated for leukemia and rarely reported in patients with other diseases. Herein, we report the case of a 9-year-old patient with a medical history of recurrent fever and mouth ulcers since the age of 4, who presented with neutropenic enterocolitis complicated with intestinal perforation which all leaded to disclose cyclic neutropenia. The patient was successfully treated by aggressive supportive care combined with surgical intervention. Neutropenic enterocolitis with possible complications should be considered and promptly managed in every neutropenic patient and may reveal a rare cause of neutropenia as cyclic neutropenia.
Case report: Serotoninergic and cholinergic syndromes induced by self-medication
Authors: Sofía Orozco-Solano, Martha Milena Silva-Castro, Manuel Machuca
Journal: Front Pharmacol (2023)
Keywords: adverse drug reaction, case report, cholinergic syndrome, comprehensive medication management, pharmaceutical care, serotoninergic syndrome
MeSH terms: Case Reports

Self-medication is a part of the self-care practices carried out by the elderly in their environment. The aim of this case report is to show how the self-medication of fluoxetine and dimenhydrinate in an older adult can induce serotoninergic and cholinergic syndromes, showing symptoms such as nausea, tachycardia, tremor, loss of appetite, memory loss, decreased vision, falls, and increased urination. An older adult who has been diagnosed with arterial hypertension, dyslipidemia, diabetes mellitus, and a recent diagnosis of essential thrombosis is the subject of this case report. After the analysis of the case, cessation of fluoxetine was recommended to avoid withdrawal symptoms, therefore decreasing the need for dimenhydrinate and the medicines used for dyspepsia. After the recommendation, the patient showed an improvement in the symptoms. Finally, the comprehensive evaluation process of the medication in the Medicines Optimization Unit achieved the detection of the problem and improved the patient's health condition.
Ocular tuberculosis with multiple cerebral abscesses
Authors: Saidin Nor-Masniwati, Embong Zunaina, Yaakub Azhany
Journal: Case Rep Ophthalmol Med (2012)
MeSH terms: Case Reports

A 23-year-old Malay man presented with headache for one-month duration. It was associated with painless blurring of vision of the right eye. He had loss of appetite and reduced weight but no night sweats or hemoptysis. His visual acuity on the right eye was 6/45 and improved to 6/15 with pinhole. Right fundus examination revealed a choroidal tuberculoma located at one disc diameter away from optic disc superiorly with mild vitritis. Systemic examinations revealed no significant finding. Mantoux test reading was 22 mm with erythrocyte sedimentation rate that was 14 mm/h. Other blood investigations were negative with normal chest radiography. The computerized tomography scan of the brain revealed multiple cerebral abscesses. A clinical diagnosis of right ocular tuberculosis with multiple cerebral abscesses was made. He was treated with antituberculosis chemotherapy for one year which divided into intensive phase for three months and maintenance phase for nine months. Cerebral abscesses resolved after three months of antituberculosis drugs and at one-year follow-up, and the choroidal tuberculoma resolved completely with scar formation and significant macular striae.