OpenMed/multicare-articles huggingface dataset:
Case Report: Recurrent Hemiplegic Migraine Attacks Accompanied by Intractable Hypomagnesemia Due to a de novo TRPM7 Gene Variant
Authors: Meifang Lei, Ping Wang, Hong Li, Xiaojun Liu, Jianbo Shu, Qianqian Zhang, Chunquan Cai, Dong Li, Yuqin Zhang
Journal: Front Pediatr (2022)
Keywords: trpm7 gene, de novo variant, hemiplegic migraine, hypomagnesemia, ion channel
MeSH terms: Case Reports

Transient receptor potential melastatin 7 (TRPM7) is a ubiquitously expressed chanzyme comprised of a divalent cation channel permeable to calcium and magnesium and a cytosolic serine-threonine α-kinase domain. TRPM7 has a crucial role in magnesium ion homeostasis and anoxic neuronal death, which was identified as a potential non-glutamate target for hypoxic-ischemic neuronal injury. TRPM7 is implicated in ischemic stroke and hypomagnesemia in many studies, but it has not been associated with disease in the OMIM database. No clinical cases between TRPM7 gene variants and hypomagnesemia have been reported, so far. One patient with recurrent hemiplegic migraine attacks accompanied by intractable hypomagnesemia was followed up at Tianjin Children's Hospital from 2018 to 2021. We systematically summarized and analyzed the clinical manifestations, imaging features, and serum magnesium changes of the patient. Genetic analysis was performed by whole-exome sequencing and Sanger sequencing to infer the etiology of hemiplegic migraine attacks and hypomagnesemia in this patient. Gene sequencing revealed a novel heterozygous variant of the TRPM7 gene (c.2998A>G, p. Met1000Val), which has not been reported previously; this is also a de novo variant that is not inherited from his parents. We described a novel variant p. Met1000Val (c.2998A>G) located in the transmembrane region of TRPM7 protein, which is possibly crucial for the normal function of the ion channel. Our study expands the variation spectrum of the TRPM7 gene, highlights the importance of molecular genetic evaluation in patients with TRPM7 gene deficiency, and demonstrates the causal relationship between TRPM7 gene variants and disease manifestations.
Glucagonoma and Glucagonoma Syndrome: A Case Report with Review of Recent Advances in Management
Authors: Ashraf Al-Faouri, Khaled Ajarma, Samer Alghazawi, Sura Al-Rawabdeh, Adnan Zayadeen
Journal: Case Rep Surg (2016)

The rarity of glucagonoma imposes a challenge with most patients being diagnosed after a long period of treatment for their skin rash (months-years). Awareness of physicians and dermatologists of the characteristic necrolytic migratory erythema often leads to early diagnosis. Early diagnosis of glucagonoma even in the presence of resectable liver metastases may allow curative resection. Herein, we present a typical case of glucagonoma treated at our center and review the literature pertinent to its management.
Adult spinal cord diffuse midline glioma, H3 K27-altered mimics symptoms of central nervous system infection: a case report
Authors: Xue Chen, Yi Li, Hui Bu, YueLi Zou, JunYing He, Hu Liu
Journal: Front Neurol (2023)
Keywords: h3 k27-altered, adult, case report, central nervous system infection, diffuse midline glioma, spinal cord neoplasms
MeSH terms: Case Reports

Diffuse midline gliomas, H3 K27-altered are infiltrative growth gliomas with histone H3K27M mutations. This glioma is more common in the pediatric population, and the prognosis is usually poor. We report a case of diffuse midline gliomas, H3 K27-altered in an adult patient that mimicked symptoms of central nervous system infection. The patient was admitted due to double vision for 2 months and paroxysmal unconsciousness for 6 days. Initially, lumbar puncture showed persistent high intracranial pressure, high protein, and low chlorine. Magnetic resonance imaging showed diffuse thickening and enhancement of meninges and spinal meninges, and later, fever occurred. The initial diagnosis was meningitis. We suspected central nervous system infection, so we started anti-infection treatment, but the treatment was ineffective. The patient's condition gradually worsened, with lower limb weakness and even the consciousness became unclear. A repeat magnetic resonance imaging and positron emission tomography-computed tomography scan showed space-occupying lesions in the spinal cord, which was considered a tumor. Following neurosurgery, pathological tests identified the tumor as diffuse midline gliomas, H3 K27-altered. The patient was recommended for radiotherapy and temozolomide chemotherapy. The patient's condition improved after chemotherapy treatment, and he survived for an additional 6 months. Our case shows that diagnosing diffuse midline gliomas, H3 K27-altered in the central nervous system is complex and can be confused with the clinical characteristics of central nervous system infection. Therefore, clinicians should pay attention to such diseases to avoid misdiagnosis.
Does Dexmedetomidine Improve or Worsen Restless Leg Syndrome under Sedation: A Case Report and Extensive Review
Authors: Sandra Iskandar, Marina Souto Martins, Andrew Hudson, Jason G Hirsch, Jonathan S Jahr
Journal: Case Rep Crit Care (2022)
MeSH terms: Case Reports

Background:
Restless leg syndrome (RLS) is a common neurological condition that manifests as creeping, nonpainful urges to move lower extremities and is relieved with movements of the legs. RLS is associated with comorbidities such as gastric surgery, diabetes mellitus, uremia, and iron deficiency anemia, and it is misdiagnosed in many cases. Drugs like levodopa, ropinirole, pramipexole, cabergoline, and pergolide that target the dopaminergic system have been traditionally used to treat symptoms of RLS. α2-adrenoceptor (α2-AR) agonists, like clonidine and dexmedetomidine, have also been reported to show improvement of RLS symptoms during sedation. Specific Aim. This case report suggests that dexmedetomidine may have worsened RLS during sedation in a 71-year-old male with no prior diagnosis of RLS or reported symptoms. The patient had a procedure for right first metatarsophalangeal joint (MTPJ) fusion, with second digit proximal interphalangeal joint (PIPJ) arthrodesis, and flexor tendon transfer due to pain on walking and failing conservative therapy. He underwent intravenous sedation/monitored anesthesia care (MAC) with propofol, dexmedetomidine, and a peripheral regional block for intraoperative anesthesia and postoperative analgesia. During the surgery, the patient experienced continuous bilateral leg movement, unpredictable, and unrelated to surgical stimulation or level of consciousness within 5 minutes of administration of dexmedetomidine. The patient tolerated the procedure, and the unpredicted leg movement was managed by the surgeons intraoperatively.
Conclusion:
Although no previous literature exists and mechanisms are unclear, this case report hypothesizes that dexmedetomidine may contribute to worsening RLS symptoms.
Renal cell carcinoma with synchronous metastasis to the calcaneus and metachronous metastases to the ovary and gallbladder
Authors: Jasper Decoene, Filip Ameye, Evelyne Lerut, Raymond Oyen, Hein Van Poppel, Steven Joniau
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Renal cell carcinomas (RCCs) are known for their unpredictable metastatic pattern. We present the case of a 63-year-old woman who initially presented in 1992 with a metastasis in the left calcaneus that led to the discovery of RCC. In 1998, a new metastasis was found in the ovary. In 2008, the diagnosis of a gallbladder metastasis was made. All metastases were surgically removed; no additional systemic therapies were used. Aggressive surgical treatment can prolong the survival of patients with resectable metastases. Patterns of metastasis are discussed, and a brief review of the literature is given regarding each localization.
Bilateral adrenal hemorrhage due to heparin-induced thrombocytopenia following partial nephrectomy - a case report
Authors: Ashley G Winter, Ranjith Ramasamy
Journal: F1000Res (2014)

Heparin-induced thrombocytopenia (HIT) can cause severe life-threatening events such as bilateral adrenal hemorrhage (BAH). A 48-year-old female developed a pulmonary embolus (PE) following partial nephrectomy. The anticoagulation treatment for her PE was complicated by HIT and subsequent BAH. To the author's knowledge, this is the first reported case of HIT-associated BAH following renal surgery.
Hydatid cyst of the rib: a new case and review of the literature
Authors: A Chafik, A Benjelloun, A El Khadir, R El Barni, A Achour, M A Ait Benasser
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

The hydatid cyst is not rare in our country, but bone lesions are less common. The disease often takes the appearance of abscess or malignant lesion. We report a case of a 35-year-old man with a hydatid cyst of the rib complicated with cutaneous fistula. The surgery allowed both diagnosis and treatment. Albendazole was then administered to prevent relapse.
Ocular Rosacea Causing Corneal Melt in an African American Patient and a Hispanic Patient
Authors: Joanna S Saade, Bachir Abiad, Jonathan Jan, Dana Saadeh, James P McCulley, Jeremy Bartley
Journal: Case Rep Ophthalmol Med (2017)
MeSH terms: Case Reports

Purpose:
To discuss two rare presentations of ocular rosacea in a Hispanic patient and an African American patient with unusual ocular manifestations.
Case report:
Case 1: a 43-year-old Hispanic woman presented with right eye corneal perforation. Her prior medical history was significant for rosacea only, diagnosed clinically by a dermatologist. Her eye exam showed signs of bilateral ocular rosacea. An emergent full thickness tectonic corneal patch graft was done. The patient's bilateral eye symptoms improved one month after initiating rosacea treatment. Case 2: a 51-year-old African American man with long standing history of untreated rosacea presented with bilateral peripheral corneal thinning with neovascularization that led to right eye corneal perforation. Glue and bandage contact lens were applied. The patient did well 4 weeks after starting antibacterial, oral steroids, and rosacea treatment.
Discussion:
Ocular rosacea can present in Hispanic and African American patients with severe manifestations such as corneal perforation.
Chronic Pelvic Pain and Infertility Resulting from Unrecognized Retained Laminaria
Authors: Wesley Nilsson, Sasha Mikhael, Jennifer Kaplan
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Background:
In 2013, the abortion rate in the United States was found to be 200 abortions per 1,000 live births. Of these, the CDC estimates that nearly 49% were performed using unsafe measures. Even when these procedures are safely performed, patients are at risk for immediate or delayed complications. In second-trimester terminations, mechanical dilation with an osmotic dilator is common to allow for delivery of the fetus. The Japanese seaweed Laminaria japonica is used to achieve this purpose.
Case:
A 28-year-old primigravida presented with chronic pelvic pain and infertility. She had irregular menstrual cycles and reported scant yellow discharge. A transvaginal ultrasound revealed an abnormally appearing endometrium with an elongated structure suspicious for a foreign body. The patient reported a voluntary termination of pregnancy twelve years earlier, for which laminaria were placed prior to the dilation and extraction. She underwent an operative hysteroscopy confirming our suspicion for retained laminaria. The pathology report demonstrated chronic severe endometritis and plant based material.
Conclusion:
Retained laminaria are associated with chronic pelvic pain and chronic infertility. Since they can be difficult to detect on conventional imaging, proper counting prior to insertion and after removal is an essential physician responsibility.
A Rare Case of Thoracic Pyogenic Facet Joint Infection
Authors: Tomoyuki Setoue, Jun-Ichiro Nakamura
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Pyogenic facet joint infection is a rare but severe infection. The most common complaint on presentation is pain followed by fever, then neurologic impairment. While the lumbar spine is involved in the vast majority of cases presented in the literature, the case presented here occurred in the thoracic spine. The patient was a 48-year-old immune-competent female who presented with left back pain. Magnetic resonance imaging (MRI) indicated a facet effusion, paraspinal abscess, and epidural abscess in the level of 9th-11th thoracic vertebra. On the 6th day of treatment, she presented a neurological disorder and underwent decompressive laminectomy and surgical debridement. We observed immediate improvement as a result of the surgery.
Adult Sporadic Burkitt's Lymphoma Presenting with Rapid Development of Peritoneal Lymphomatosis
Authors: Naomi Fei, Nilay Shah
Journal: Case Rep Oncol Med (2017)
MeSH terms: Case Reports

Sporadic Burkitt's Lymphoma (BL) is a highly aggressive form of non-Hodgkin's lymphoma which requires prompt diagnosis and treatment. Though usual presentation involves abdominal lymphadenopathy with possible solid organ involvement, sporadic BL can rarely present with peritoneal lymphomatosis. We present a unique case with rapid evolution of BL presenting as peritoneal and omental lymphomatosis with hepatic lesions and pelvic and pericardial adenopathy.
Addison's Disease Presenting as Acute Renal Failure and Hyperkalemic Paralysis: A Rare Presentation
Authors: Kundan Jana, Kalyana Janga, Sheldon Greenberg, Amit Gulati
Journal: Case Rep Endocrinol (2021)
MeSH terms: Case Reports

Hyperkalemic paralysis in the setting of acute renal failure can lead to a missed or delayed diagnosis of adrenal insufficiency as the raised potassium can be attributed to the renal failure. Acute kidney injury as the presenting manifestation in an adrenal crisis due to Addison's disease has been rarely reported in the literature. Here, we present the case of a young 37-year-old male who came with hyperkalemic paralysis and acute renal failure needing emergent hemodialysis. He had no past medical history and no medication history. His hyponatremia, hypotension, and hyperkalemia pointed to a picture of adrenal insufficiency confirmed by undetectable serum cortisol, elevated ACTH, renin, and low aldosterone levels and imaging. Replacement steroid therapy was given, and the patient made a steady recovery. He was advised on the importance of compliance to treatment at discharge to prevent another crisis event. Acute renal failure with hyperkalemia as a presenting manifestation of Addison's disease can be very misleading. It is especially important to be vigilant of adrenal insufficiency in such patients as the hyperkalemia is resistant to standard therapy of insulin dextrose and can precipitate fatal arrhythmia if treatment is delayed.
Late Presentation of an Iatrogenic Pseudoaneurysm of the Profunda Femoris Artery following Intramedullary Nailing
Authors: Kira Vande Voorde, Jan Dauwe, Jan Van Oost
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Introduction:
Hip fractures are one of the most common osteoporotic fractures, and the incidence is expected to increase in the future. Vascular injury of the femoral vessels, although uncommon, is an intermittently reported complication in the treatment of proximal femoral fractures. This may be iatrogenic or less frequently as a result of the fracture itself. The profunda femoris artery is most commonly involved, probably because of its close relationship to the femur in the subtrochanteric region.
Case presentation:
We report a well-documented case of pseudoaneurysm of the profunda femoris artery after intramedullary nailing of an intertrochanteric femoral fracture. Arterial damage was due to overpenetration when drilling the distal locking hole. Because of the late presentation, pressure on the medial femoral diaphysis caused severe cortical scalloping. This resulted in an obvious radiographic image rarely reported before.
Conclusion:
This case report illustrates the uncommon complication of pseudoaneurysm after intramedullary hip nailing. Because of the risk of potentially limb- and life-threatening complications, we advise careful drilling and placement of the distal locking screw. Excessive screw length should be avoided. The injured limb should be returned to the neutral position and lower-limb traction should be reduced before drilling the distal locking hole.
Nonsurgical Orthodontic Treatment of a Severe Open Bite Case Using Miniscrews with Modified Multiloop Edgewise Arch Wire Technique
Authors: Abdulkarim A Hatrom, Bushra Kanwal, Fatima Hamooda, Hashim A Alzahrani
Journal: Case Rep Dent (2022)
MeSH terms: Case Reports

Skeletal open bite is one of the most challenging malocclusions to treat and maintain due to the difficulty and instability of correction. Although a combination of orthodontic treatment and orthognathic surgery may be the ideal approach in most cases, the complications, risks, and costs of surgery have sparked an interest in alternative treatment options that use temporary anchorage devices to achieve orthognathic-like effects. Adult patients can be treated without the need for special compliance using temporary anchorage devices such as miniscrews. This case report demonstrates a goal-oriented strategy for nonsurgical treatment of a complex skeletal open bite malocclusion in an adult patient using miniscrews and a modified multiloop edgewise arch wire (MEAW) technique, with the results evaluated clinically and cephalometrically.
Rare 48, XYYY syndrome: case report and review of the literature
Authors: Maryam Abedi, Arash Salmaninejad, Ebrahim Sakhinia
Journal: Clin Case Rep (2017)
Keywords: 48, xyyy syndrome, qf‐pcr, chromosomal abnormality, cytogenetic, sex chromosome
MeSH terms: Case Reports

48, XYYY syndrome is a rare condition. A male with 32-year-old and three Y chromosomes is described. This syndrome is phenotypically similar to Klinefelter syndrome. In this patient, Semi-Klinefelter characteristics such as tall stature, teeth dysmorphology, long length of fingers, partial deformity of the joints, likewise mental health problems were obvious.
Successful Perioperative Management with Damage Control Surgery in a Patient with Massive Postpartum Hemorrhage of More Than 20,000 mL
Authors: Keisuke Yoshida, Kazuhiro Watanabe, Yuki Sato, Miho Sumiyoshi, Masahiro Murakawa
Journal: Case Rep Anesthesiol (2020)
MeSH terms: Case Reports

Disseminated intravascular coagulation (DIC) in obstetrics is related to postpartum hemorrhage and has been a leading cause of maternal death. We here report a successful treatment, via damage control surgery (DCS), of a life-threatening massive hemorrhage of more than 20,000 mL due to DIC. A 30-year-old female was admitted to our hospital because of atonic bleeding. Since she was having a uterine rupture, an emergency hysterectomy was performed. Because of the severe DIC (fibrinogen, 65 mg/dL; platelet count, 6.0 × 109/L), oozing persisted after the hysterectomy; thus, intraperitoneal gauze packing was performed as DCS. Afterwards, the coagulopathy was corrected, and the gauze was removed on the second postoperative day (POD 2). The patient was discharged without complications on POD 16. The present case demonstrated that performing DCS and waiting for improvement of the coagulation system can be one of the treatment options for management of patients with severe DIC.
Posterior Fossa Dysembryoplastic Neuroepithelial Tumor: A Neuropathological Report
Authors: George S Stoyanov, Lilyana Petkova, Toni Kondev, Radoslav Georgiev, Yavor Enchev
Journal: Cureus (2023)
Keywords: cerebellum, dysembryoplastic neuroepithelial tumor, neuropathology, neurosurgery, pediatric tumor
MeSH terms: Case Reports

Dysembryoplastic neuroepithelial tumors (DNTs) are rare neoplastic entries of the central nervous system. Conventionally DNTs are with cortical location and predominantly occur in the temporal lobe associated with epilepsy. Subtentorial DNTs are rare entries. Herein we report a case of a two-year-old female with a DNT located in the cerebellum. The patient presented clinically with new onset gait instability, headaches and strabismus. Neuroradiology revealed a heterogenous, predominantly cystic lesion in the cerebellar vermis and left cerebellar hemisphere, which was interpreted as possible medulloblastoma based on the patient profile. Frozen section neuropathology was more suggestive of a low-grade glial tumor, with conventional histology and immunohistochemistry showing an admixture of glial and neuronal cells - a complex variety of DNT. Due to the histological appearance, differential diagnosis was required with other neuroglial tumors native to the posterior fossa, such as Lhermitte-Duclos disease. There have been several such published case reports, which, although of older patients, present with similar symptoms and neuropathological findings. The complexity of the neuropathological finding in posterior fossa DNTs can lead to future separation of this entry from conventional DNT, as was seen in the past with septum pellucidum DNT, now referred to as myxoid glioneuronal tumor.
Use of Iatrogenic Lipid Emulsion and Subsequent Plasmapheresis for the Treatment of Amitriptyline Overdose
Authors: Ryan C Laffin, Ashley M Cunningham, Sean A Fitzgerald, Donald A Wiebe, Jeffrey A Wells, Janice Robin Linzell, William Nicholas Rose
Journal: Case Rep Crit Care (2022)
MeSH terms: Case Reports

Plasmapheresis for the treatment of hypertriglyceridemia is relatively uncommon and mostly reported either in patients experiencing hypertriglyceridemia-induced acute pancreatitis or patients with therapy-resistant familial hypercholesterolemia. Standard therapies for hypertriglyceridemia include dietary modification and lipid-lowering medication. For severe hypertriglyceridemia, the risk of pancreatitis increases significantly as triglyceride levels increase above 1000 mg/dL, and current therapies are unable to reduce triglyceride levels rapidly enough. Here, we report a case of a 48-year-old male patient who presented to the emergency department due to an amitriptyline overdose. In addition to being started on IV sodium bicarbonate therapy, an intravenous 20% fat emulsion bolus at 1.5 mL/kg was administered followed by 0.25 mL/kg/min infusion for 4 hours as a strategy to absorb lipophilic amitriptyline. Two days posttreatment, he was noted to have substantial hypertriglyceridemia (serum triglycerides: 6,475 mg/dL). His amylase was within the normal range at 37 U/L (reference range: 20-100 U/L), his lipase was low at 40 U/L (reference range: 75-390 U/L), and he was without evidence of any clinical sequelae secondary to hypertriglyceridemia (e.g., pancreatitis). Due to the severity of his hypertriglyceridemia, plasmapheresis was initiated urgently for rapid reduction in serum triglyceride levels to prevent pancreatitis and end-organ damage. He underwent a 1-plasma volume exchange with 5% albumin as the replacement fluid. This reduced his triglyceride levels to 185 mg/dL (reference range: 3-149 mg/dL). His symptoms secondary to his amitriptyline overdose were also resolved. Here, we report a 2-step process of intravenous lipid emulsion followed by plasmapheresis for amitriptyline overdose.