OpenMed/multicare-articles huggingface dataset:
A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2
Authors: Sean Lance, Stuart Mossman, Gemma Poke
Journal: Case Rep Neurol Med (2018)
MeSH terms: Case Reports

Episodic ataxia is a heterogenous group of uncommon neurological disorders characterised by recurrent episodes of vertigo, dysarthria, and ataxia for which a variety of different genetic variations have been implicated. Episodic ataxia type two (EA2) is the most common and also has the largest number of identified causative genetic variants. Treatment with acetazolamide is effective in improving symptoms, so accurate diagnosis is essential. However, a large proportion of patients with EA2 have negative genetic testing. We present a patient with a typical history of EA2 who had a novel variant in the CACNA1A gene not previously described. Report of such variations is important in learning more about the disease and improving diagnostic yield for the patient.
A long-term survival case after resection of the pancreatic metastasis from lung cancer
Authors: Yumiko Kageyama, Ryuzo Yamaguchi, Shinya Watanabe, Keiji Aizu, Fumiya Sato, Hironori Fujieda, Mihoko Yamada, Yoshitaka Toyoda, Tsutomu Iwata
Journal: Int J Surg Case Rep (2019)
Keywords: combined therapy, lung cancer, pancreatic metastasis, surgical resection

Introduction:
Pancreatic metastasis from lung cancer is not an indication for surgical resection because patients with such a condition present with multiple-organ metastases. Therefore, the significance of resection in patients with pancreatic metastasis from lung cancer remains unclear. Here we report a case of a long-term survivor of pancreatic metastasis from lung cancer after pancreatectomy.
Case presentation:
A 67-year-old woman presented with a pancreatic mass. She had undergone left lower lobectomy for stage IIIA lung adenocarcinoma 6 years prior to presentation. Following surgery, she received adjuvant treatment with gefitinib for 7 months. However, this treatment was discontinued due to its side effects. The patient received radiation therapy for mediastinal lymph node metastasis 2 years after resection and she became cancer-free. Six years after the initial pulmonary resection, the patient's tumor marker level increased, and abdominal computed tomography (CT) revealed a 20-mm tumor in the pancreatic tail. Positron emission tomography-CT revealed an abnormal uptake in the pancreatic tail. However, no other abnormal lesions were observed. The diagnosis was primary pancreatic cancer or metastasis from lung cancer. Distal pancreatectomy with lymph node dissection was performed, and the pathological diagnosis was metastasis from lung cancer. The patient survived for more than 5 years without recurrence but she died of acute renal failure after acquiring pneumonia.
Conclusion:
Surgical treatment should be considered for pancreatic metastasis from lung cancer if the disease is localized and the patient's condition is good. Additionally, combined therapy, including surgical resection, may be effective for repeated recurrence.
Autologous Stem Cell Transplantation in Common Variable Immunodeficiency: A Case of Successful Treatment of Severe Refractory Autoimmune Encephalitis
Authors: Matthias Froehlich, Eva C Schwaneck, Michael Gernert, Ottar Gadeholt, Patrick-Pascal Strunz, Henner Morbach, Hans-Peter Tony, Marc Schmalzing
Journal: Front Immunol (2020)
Keywords: autoimmune encephalitis, autoimmunity, autologous stem cell transplantation, common variable immunodeficiency, primary immunodeficiencies
MeSH terms: Common Variable Immunodeficiency / therapy, Encephalitis / therapy, Hashimoto Disease / therapy, Hematopoietic Stem Cell Transplantation, Case Reports, Adult, Female, Humans, Transplantation, Autologous, Treatment Outcome, Hashimoto's encephalitis

Common variable immunodeficiency (CVID) is the most common primary immunodeficiency in adults. It is associated with hypogammaglobulinemia, recurring infections and autoimmune phenomena. Treatment includes immunoglobulin substitution and immunosuppressants. Autoimmune neurological manifestations of CVID are rare and occur predominantly as granulomatous disease. We report the case of a 35-year-old woman with CVID who developed autoimmune encephalitis as demonstrated by double cerebral biopsy. Infectious or malignant causes could be excluded. Despite intensive immunosuppressive therapy with common regimens no significant improvement could be achieved. Ultimately, an autologous hematopoietic stem cell transplantation (HSCT) was performed, resulting in lasting complete remission of the encephalitis. To our knowledge, this is the first report of refractory autoimmune phenomena in CVID treated by autologous HSCT.
Atypical Miller Fisher Syndrome with Anisocoria and Rapidly Fluctuating Pupillary Diameter
Authors: Garima Gupta, Antonio Liu
Journal: Case Rep Neurol Med (2015)

Miller Fisher syndrome is a variant of Guillain-Barre syndrome characterized by the classic triad of ophthalmoplegia, ataxia, and areflexia. Pupillary involvement is common in MFS and has been reported in 35-42% of MFS patients. Although case reports have discussed isolated ophthalmoplegia as a presentation of MFS, anisocoria and rapid fluctuation of pupillary diameter have not been reported in anti-GQ1b antibody positive individuals. Here we describe an individual who presented with diplopia and was found to have progressive internal and external ophthalmoplegia with frequent fluctuations in pupillary diameter and anisocoria. These exam findings are not commonly described even in atypical presentations of MFS. The onset of symptoms was preceded by an upper respiratory infection but no gastrointestinal symptoms. Imaging and CSF studies were unremarkable; however serum levels of immunoglobulin G anti-GQ1b antibody and anti-GAD antibody were elevated confirming the diagnosis of MFS. The patient was treated with IVIG and intravenous steroids with mild resolution of external ophthalmoplegia. He did not go on to develop more typical features of MFS such as ataxia or areflexia. This demonstrates that isolated external and internal ophthalmoparesis with rapidly fluctuating pupillary diameter and associated anisocoria can be the sole manifestation of atypical MFS.
Lumbopelvic Fixation for Sacral Insufficiency Fracture Presenting with Sphincter Dysfunction
Authors: Satoshi Maki, Kaito Nakamura, Tomonori Yamauchi, Takeshi Suzuki, Manato Horii, Koui Kawamura, Masaaki Aramomi, Hiroshi Sugiyama, Seiji Ohtori
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Sacral insufficiency fractures (SIFs) are common in the elderly. In patients with SIF, objective neurological abnormalities such as sphincter dysfunction or leg paresthesia are uncommon. We present a case of SIF accompanied by spinopelvic dissociation with late neurological compromise treated by spinopelvic fixation. A 61-year-old woman presented to our hospital with low back pain without obvious trauma history. She had a past history of eosinophilic granulomatosis with polyangiitis and treatment with steroids. Her low back pain became worse, and she started to have radiating left posterior thigh pain and motor weakness in the left ankle and both great toes with symptoms of stress urinary incontinence, constipation, and loss of anal sensation. Magnetic resonance imaging revealed an H-shaped sacrum fracture. We attributed the neurological symptoms to unstable SIF and performed lumbopelvic fixation. After the surgery, her leg pain and symptoms of stress urinary incontinence improved markedly, as did anal sensation. At a 6-month follow-up, the patient reported no low back pain and she was walking independently without pelvic complaints. CT showed bone union was achieved. Even minimally displaced SIF in patients with osteoporosis can be a cause of bowel and bladder disturbance. Lumbopelvic fixation is a treatment option for SIF with spinopelvic dissociation presenting neurological deficit.
Splenic infarction during acute falciparum malaria: A case report
Authors: Youguang Lu, Shian Zhang, Chuanshen Jiang
Journal: Front Med (Lausanne) (2022)
Keywords: plasmodium falciparum, complication, malaria, splenic infarction, treatment
MeSH terms: Case Reports

Splenomegaly is common in malaria, but splenic infarction is a rare complication of malaria. We report a case of a patient with Plasmodium falciparum infection who developed abdominal pain, reappearance of fever, elevated D-dimer during treatment, and abdominal CT confirmed splenic infarction. The abdominal pain was relieved and the fever subsided by analgesic and anticoagulant therapy. Six months later, abdominal CT showed splenic recovery. As a result, splenic infarction should be considered when a patient with malaria developed abdominal pain, reappearance of fever and elevated blood D-dimer during treatment. In the absence of surgical indications, conservative medical treatment is effective.
Multilocular unicystic ameloblastoma of mandible
Authors: Manas Bajpai, Deshant Agarwal, Anindya Bhalla, Malay Kumar, Rakesh Garg, Manish Kumar
Journal: Case Rep Dent (2013)

Introduction. We report a rare case of unicystic ameloblastoma (UA) of mandible which showed multilocular radiolucency on the left side of mandible on radiographic examination which is very unusual, and the majority of the cases of UAs till date has been reported of unilocular radiolucency. On histopathological examination, an odontogenic cystic lining that proliferates that intraluminally resembling ameloblastomatous epithelium was observed, leading to a definitive diagnosis of unicystic ameloblastoma. Case Presentation. A 42-year-old male patient presented with a swelling on the left side of the mandible extending from 33 to 36. Radiographically, it showed a multilocular radiolucent lesion resembling odontogenic cyst; however, the final diagnosis was made on histopathological ground with the inclusion of radiological and clinical features. Conclusion. It can be concluded that at present, histopathologic examination is the most sensitive tool for differentiating between odontogenic cysts and UAs. However, both clinical and radiologic findings share equal contribution to the final diagnosis.
Rapidly Progressive Myelopathy Caused by Aggressive Vertebral Hemangioma
Authors: Kevin A Moattari, Rojeh Melikian, Sanjay K Khurana
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Introduction:
Vertebral hemangiomas are the most common benign tumors of the spine, having an incidence of 10-12% in the general population. They are asymptomatic, incidental findings in the vast majority of patients; however, in rare cases, they can expand to cause neural compression. Aggressive lesions of this sort are most commonly found in the thoracic spine, and expansion leads to the subacute development of myelopathy.
Case report:
The authors report a rare case of aggressive vertebral hemangioma at the T1 vertebral body which caused rapidly progressive myelopathy over the course of 7 days. Clinical and radiological findings are shown as well as surgical management of the lesion. The patient regained the ability to ambulate, and there was no evidence of disease recurrence at 2-year follow-up.
Conclusions:
Although aggressive vertebral hemangiomas are a rare cause of myelopathy, they must be kept in mind in the differential diagnosis of cord compressive lesions. In this case, contrary to most, the expansion of the hemangioma led to rapid development of neurological decline necessitating urgent surgical intervention.
Pyogenic Odontoid Osteomyelitis with Sinus Thrombosis
Authors: Rohit Aiyer, Janice Hwang, Edward H Yu
Journal: Case Rep Radiol (2017)
MeSH terms: Case Reports

71/F presented with left sided headaches and neck pain with nuchal rigidity progressively worsening over 3 weeks with no other neurologic symptoms. Odontoid osteomyelitis with epidural abscess was discovered on further workup with neuroimaging. Concurrent jugular vein and transverse sinus venous thrombosis was also found and suspected to be secondary to the pyogenic odontoid osteomyelitis. Patient was treated with intravenous antibiotics for the osteomyelitis as well as intravenous heparin for the venous thrombosis. To our knowledge, this is the first case reported in literature of transverse sinus venous thrombosis secondary to odontoid osteomyelitis.
Repeated Occurrence and Recurrence of Secondary Oral Solid Cancers after Hematopoietic Stem Cell Transplantation for Leukaemia: Long-Term Follow-Up
Authors: Takumi Takahashi, Miki Yamada, Keisuke Sawada, Nami Nakayama, Yosuke Iijima, Shunsuke Hino, Takahiro Kaneko, Norio Horie
Journal: Case Rep Dent (2022)
MeSH terms: Case Reports

Hematopoietic stem cell transplantation (HSCT) is a common method for patients such as hematologic malignancies. However, HSCT generally has a higher risk of secondary solid cancer development. The aim of this study was to emphasize the need for lifelong follow-up of oral secondary solid cancer. The patient was a male who underwent HSCT for chronic myelogenous leukaemia at the age of 31 years. He underwent ten onsets on oral secondary solid cancers during his subsequent follow-up of more than 20 years. In conclusion, patients after HSCT require lifelong observation of oral secondary solid cancer, which may be accompanied by repeated new and recurrent occurrences.
Fibroblastic osteosarcoma in a lion (Panthera leo)
Authors: L Leonardi, E Lepri, S Nannarone, O Olivieri, L Mechelli
Journal: Open Vet J (2014)
Keywords: bone tumor, fibroblastic, humerus, osteosarcoma, panthera leo
MeSH terms: Case Reports

This report describes a case of spontaneous fibroblastic osteosarcoma in the humerus of a lion from a private park in Perugia, Italy. The tumor had an irregular, smooth, brown surface and a generally firm, rubbery consistence with gritty to hard areas interspersed. The mass was poorly vascularized with areas of necrosis at the periphery. The cut surface showed a multilobulated mass that had breached the humeral cortex, with periosteal production of reactive bone. The mass invaded the epiphysis, the synovial membrane, the joint capsule and ligaments. A mild hemorrhagic effusion appeared in the joint space. Clinical signs, gross and histopathologic findings are described in this rare case of a malignant bone tumor.
Case Report: Hypertriglyceridemia and Premature Atherosclerosis in a Patient With Apolipoprotein E Gene ε 2 ε 1 Genotype
Authors: Alena S Limonova, Alexandra I Ershova, Alexey N Meshkov, Anna V Kiseleva, Mikhail G Divashuk, Vladimir A Kutsenko, Oxana M Drapkina
Journal: Front Cardiovasc Med (2021)
Keywords: apolipoprotein e, familial dysbetalipoproteinemia, genetic testing, premature cardiovascular disease, triglyceride
MeSH terms: Case Reports

We present a case of a 40-year-old male with premature atherosclerosis, with evidence of both eruptive and tendinous xanthomas, which could imply an increase in both low-density lipoprotein (LDL) and triglyceride (TG) levels. However, his LDL was 2.08 mmol/l, TG -11.8 mmol/l on rosuvastatin 20 mg. Genetic evaluation was performed using a custom panel consisting of 25 genes and 280 variants responsible for lipid metabolism. A rare ε2ε1 genotype of apolipoprotein E was detected. The combination of clinical manifestations and genetic factors in this patient leads to the diagnosis of familial dysbetalipoproteinemia. Implementation of genetic testing into routine clinical practice could not only improve disease diagnostics and management, but also help prevent their development.
Three-year successful cinacalcet treatment of secondary hyperparathyroidism in a patient with x-linked dominant hypophosphatemic rickets: a case report
Authors: Diana Grove-Laugesen, Lars Rejnmark
Journal: Case Rep Endocrinol (2014)

Hypophosphatemic rickets (HR) is a rare inherited disorder characterized by a classic rickets phenotype with low plasma phosphate levels and resistance to treatment with vitamin D. Development of secondary hyperparathyroidism (SHPT) as a direct consequence of treatment is a frequent complication and a major clinical challenge, as this may increase risk of further comorbidity. Cinacalcet, a calcimimetic agent that reduces the secretion of PTH from the parathyroid glands, has been suggested as adjuvant treatment to SHPT in patients with HR. However, only two papers have previously been published and no data are available on effects of treatment for more than six months. We now report a case of 3-year treatment with cinacalcet in a patient with HR complicated by SHPT. A 53-year-old woman with genetically confirmed X-linked dominant hypophosphatemic rickets developed SHPT after 25 years of conventional treatment with alfacalcidol and phosphate supplements. Cinacalcet was added to her treatment, causing a sustained normalization of PTH. Ionized calcium decreased, requiring reduction of cinacalcet, though asymptomatical. Level of phosphate was unchanged, but alkaline phosphatase increased in response to treatment. Cinacalcet appeared to be efficient, safe, and well tolerated. We recommend close control of plasma calcium to avoid hypocalcemia.
Case Report: Late-Onset Congenital Adrenal Hyperplasia and Acute Covid-19 Infection in a Pregnant Woman: Multidisciplinary Management
Authors: Claudia Giavoli, Enrico Iurlaro, Valentina Morelli, Giulia Rodari, Andrea Ronchi, Carlo Pietrasanta, Lorenza Pugni, Daniela Tubiolo, Paolo Properzi, Antonio Pesenti, Giovanna Mantovani, Enrico Ferrazzi, Maura Arosio
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: covid-19, adrenal, congenital adrenal hyperplasia, pregnancy, steroid replacement
MeSH terms: Adrenal Hyperplasia, Congenital / complications, COVID-19 / complications, Pregnancy Complications, Infectious / epidemiology, SARS-CoV-2 / isolation & purification, Case Reports, Adrenal Hyperplasia, Congenital / epidemiology, Adrenal Hyperplasia, Congenital / virology, Adult, Age of Onset, COVID-19 / transmission, COVID-19 / virology, Cesarean Section, Female, Humans, Infant, Newborn, Pregnancy, Pregnancy Complications, Infectious / virology, Pregnant Women, Prognosis

Background:
The impact of the Covid-19 infection on patients with chronic endocrine disease is not fully known. We describe here the first case of a pregnant woman with Covid-19 acute infection and non-classical congenital adrenal hyperplasia (NCAH).
Case description:
A woman at 36 weeks of gestation was referred to our Maternity Hospital for premature rupture of membranes (PROM). Her medical history was positive for NCAH on chronic steroid replacement till the age of 17 years (cortisone acetate and dexamethasone, both in the morning). At admission, her naso-oro-pharyngeal swab resulted positive for SARS-CoV-2. Due to hyperpyrexia and late preterm PROM, cesarean section was planned, and she was started on a 100 mg-bolus of hydrocortisone, followed by continuous infusion of 200 mg/24 h. A female neonate in good clinical condition and with a negative nasopharyngeal Covid-19 swab was delivered. On second postpartum day, the mother was in good condition and was switched to oral steroid therapy. On third postpartum day she worsened, with radiological signs of acute pulmonary embolism. Oro-tracheal intubation and mechanical ventilation were started, and she was switched back to intravenous steroid therapy. On April 30, pulmonary embolism was resolved, and on May 13th she was discharged in good condition.
Conclusions:
We report the first case of Covid-19 acute infection that occurred in late-pregnancy in a woman with NCAH on chronic steroid replacement. The management of the patient in a reference center with early involvement of a multidisciplinary team granted prompt care and adequate protection for all the involved sanitary operators.
Acute Megakaryoblastic Leukemia with Trisomy 21 and Tetrasomy 21 Clones in a Phenotypically Normal Child with Mosaic Trisomy 21
Authors: Eric Won, Tanja A Gruber, Suzanne Tucker, Deborah E Schiff
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

Pediatric acute megakaryoblastic leukemia (AMKL) is a rare subtype of acute myeloid leukemia (AML) that may be divided into two subgroups: (1) Down syndrome- (DS-) related AMKL which generally has a favorable prognosis and (2) non-DS-related AMKL which generally has a poorer outcome. We report a phenotypically normal child with AMKL with trisomy 21 (T21) and tetrasomy 21 clones. Subsequently, she was diagnosed with mosaic T21. She underwent reduced-intensity therapy with good outcome. We review the literature regarding AMKL-associated cytogenetic abnormalities and AMKL in association with DS. We suggest evaluation for mosaic T21 in phenotypically normal pediatric patients with T21-positive AML.
Cardiac infarction caused by PD-1 inhibitor during small cell neuroendocrine carcinoma of the ureter treatment: A case report
Authors: Xiaoying Li, Jing Wen, Hongtao Li, Yan Huang, Hongliang Zhou
Journal: Front Oncol (2023)
Keywords: pd-1 inhibitor treatment, cardiac infarction, case report, literature review, small cell neuroendocrine carcinoma the ureter
MeSH terms: Case Reports

Although small cell neuroendocrine carcinoma of the ureter (ureteral SCNEC) is rare, it always leads to a poor prognosis. Also, no treatment recommendation has been given for ureteral SCNEC, with only PD-1/PD-L1 inhibitors being used for its treatment. Here, we report a case of atypical symptoms of cardiac infarction caused by a PD-1 inhibitor used in the treatment of ureteral SCNEC and hope to address concerns regarding the possible cardiac toxicity caused by PD-1/PD-L1 inhibitors in ureteral SCNEC patients.
Adenosine-Induced Atrial Fibrillation During Coronary Angiography and Fractional Flow Reserve Procedures
Authors: Rohit Bhatheja, Shammas Bajwa, Kapil Kapoor
Journal: Cureus (2023)
Keywords: adenosine, arrhythmia, coronary angiography, fractional flow reserve, resting full cycle ratio
MeSH terms: Case Reports

A woman in her sixties presented with a history of progressive shortness of breath, palpitations, and feeling of chest heaviness for the last eight months. To rule out underlying obstructive coronary artery disease, an invasive cardiac catheterization was planned. To assess the hemodynamic significance of the lesion, resting full cycle ratio (RFR) and fractional flow reserve (FFR) values were measured. During this procedure, almost immediately after starting IV adenosine infusion, the patient went into atrial fibrillation which was reversed by IV aminophylline. Awareness of this uncommon effect of adenosine on the cardiac electrical pathways merits knowledge and a thorough follow-up testing of these patients is justified.
Sjögren Syndrome Complicated with Cystic Lung Disease and Pulmonary Amyloidosis
Authors: Koichiro Takahashi, Hironori Sadamatsu, Shinsuke Ogusu, Kazutoshi Komiya, Tomomi Nakamura, Shinya Kimura, Naoko Sueoka-Aragane
Journal: Case Rep Rheumatol (2018)
MeSH terms: Case Reports

A 72-year-old Japanese woman was noted to have multiple cystic lung shadows and infiltrates on chest radiography and computed tomography (CT). She complained of dryness of the mouth and eyes, but she did not have respiratory symptoms, such as cough, sputum production, and dyspnea. Her laboratory findings showed high titers of anti-SSA/Ro and anti-SSB/La antibodies. Surgical lung biopsy was performed and demonstrated pathologic findings of amyloid light-chain deposition and bronchiolitis with lymphocytic infiltration. Taken altogether, she was diagnosed as Sjögren syndrome with bronchiolitis and pulmonary amyloidosis. Since then, she has been carefully followed up without treatment. After 6 years, the cystic lung lesions on CT gradually enlarged and increased in number, but she remained to have no respiratory symptoms and no manifestations of lymphoma. Here, we report a rare case of Sjögren syndrome complicated with cystic lung disease and pulmonary amyloidosis.