OpenMed/multicare-articles huggingface dataset:
Case Report: Systemic lupus erythematous associated with thrombotic thrombocytopenic purpura, a diagnostic challenge
Authors: Horacio Suárez-Ale, Elizabeth Fabian-Aquino, Virgilio E Failoc-Rojas, Vicente A Benites-Zapata, Felipe Ignacio-Cconchoy
Journal: F1000Res (2022)
Keywords: systemic lupus erythematous, thrombotic thrombocytopenic purpura, adamts-3 protein, human, plasmapheresis
MeSH terms: Lupus Erythematosus, Systemic / complications, Lupus Erythematosus, Systemic / diagnosis, Purpura, Thrombotic Thrombocytopenic / complications, Purpura, Thrombotic Thrombocytopenic / diagnosis, Purpura, Thrombotic Thrombocytopenic / therapy, Case Reports, ADAMTS13 Protein, Adult, Child, Female, Humans, Plasmapheresis / adverse effects, ADAMTS13 Protein

Thrombotic thrombocytopenic purpura (TTP) is an uncommon microangiopathic disease and sometimes is associated with systemic lupus erythematous (SLE). However, this probable causal relationship has not been completely proven. The diagnostic differentiation of both diseases is difficult in the first instance because they share similar characteristics that may overlap. We present a case of a 32-year-old woman with antecedents of epileptic seizures since she was 12 years old. The patient was admitted to the emergency room with a clinical picture of headaches, fever, paleness in the skin and mucosa, confused state, paresthesia, and transient spasticity of the extremities. The laboratory results revealed direct Coombs negative hemolytic anemia, severe thrombocytopenia, significant elevation of lactate dehydrogenase, and presence of schistocytes ++ in the peripheral film. In addition, positive antinuclear antibodies and positive anti-native DNA in titers of 1/320 and 1/160, respectively, were found. Urinalysis showed that serum creatinine was in normal range. Because of limited hospital resources, ADAMTS13 was not evaluated. However, based on clinical, hematological, and biochemical findings, we concluded that it was a case of TTP associated with SLE and indicated treatment with plasmapheresis and methylprednisolone pulses, obtaining a satisfactory response (normalization of biomarker levels, health condition) after the second session of plasmapheresis. Diagnosis of both SLE and TTP is often difficult to achieve; however, adequate correlation of clinical manifestations and laboratory tests, along with the help of partial therapeutic interventions, may lead to good clinical response.
A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels
Authors: Cassandra Brady, Andrew A Palladino, Iris Gutmark-Little
Journal: Int J Pediatr Endocrinol (2015)
Keywords: abcc8, congenital hyperinsulinism, diazoxide-unresponsive, octreotide
MeSH terms: Case Reports

Background:
Congenital hyperinsulinism leads to unregulated insulin secretion and hypoglycemia. Diagnosis can be difficult and genetic testing may be warranted.
Case:
This patient initially presented at 11 months with seizure activity secondary to severe hypoglycemia. Her diagnostic evaluation included genetic studies, which confirmed congenital hyperinsulinism. A novel combination of mutations in the ABCC8 gene leading to diffuse, diazoxide-unresponsive congenital hyperinsulinism was identified. Mutation analysis of ABCC8 showed three variants (R1215W - paternal, pathogenic; W739C - maternal, variant of unknown significance; R1393L - maternal, variant of unknown significance). Her clinical course continues to be complicated by severe, refractory hypoglycemia at age 3 years.
Conclusion:
We describe a novel compound heterozygous mutation leading to diffuse, diazoxide-unresponsive congenital hyperinsulinism. This case illustrates challenges associated with diagnosing and managing congenital hyperinsulinism and the importance of genetic testing.
Traumatic pericardial rupture with skeletonized phrenic nerve
Authors: Zain Khalpey, Taufiek K Rajab, Jan D Schmitto, Philipp C Camp
Journal: J Cardiothorac Surg (2011)
MeSH terms: Heart Injuries / diagnosis, Pericardium / innervation, Phrenic Nerve / injuries, Wounds, Nonpenetrating / diagnosis, Case Reports, Adolescent, Cardiac Surgical Procedures / methods, Diagnosis, Differential, Diagnostic Imaging, Humans, Male, Pericardium / injuries, Phrenic Nerve / surgery, Rupture, Wounds, Nonpenetrating / surgery

Background:
Traumatic pericardial rupture is a rare presentation. Pericardial rupture itself is asymptomatic unless complicated by either hemorrhage or herniation of the heart through the defect. Following diagnosis surgical repair of the pericardium is indicated because cardiac herniation may result in vascular collapse and sudden death.
Objectives:
Here we present a case of traumatic, non-herniated pericardial rupture with complete skeletonization of the phrenic nerve.
Case report:
An 18-year-old healthy male suffered multi-trauma after falling 50 feet onto concrete. The patient could not be stabilized despite exploratory laparotomy with splenectomy, IR embolization and packing for a liver laceration. Right posterolateral thoracotomy revealed a ruptured pericardium with a completely skeletonized phrenic nerve. The pericardium was repaired with a Goretex(R) patch.
Conclusion:
A high level of suspicion for pericardial rupture is necessary in all patients with high-velocity thoracic injuries.
Cutaneous manifestations of thyroid disease: a case of thyroid-induced myxedema
Authors: Anjali Shroff, Gregory Simpson
Journal: Case Rep Dermatol Med (2011)
MeSH terms: Case Reports

The cutaneous manifestations of thyroid disease can be present in the hair, nails, and local or diffuse locations throughout the skin. Traditionally, thyroid-associated mucin deposition is present in a pretibial location on bilateral lower legs. We present a case of a growing plaque on the lower back of a 10-year-old girl, whose appearance coincided with a recent diagnosis of Hashimoto's thyroiditis.
Epidemiologic clues to SARS origin in China
Authors: Rui-Heng Xu, Jian-Feng He, Meiron R Evans, Guo-Wen Peng, Hume E Field, De-Wen Yu, Chin-Kei Lee, Hui-Min Luo, Wei-Sheng Lin, Peng Lin, Ling-Hui Li, Wen-Jia Liang, Jin-Yan Lin, Alan Schnur
Journal: Emerg Infect Dis (2004)
MeSH terms: Disease Outbreaks, Severe Acute Respiratory Syndrome / epidemiology, Severe acute respiratory syndrome-related coronavirus / growth & development, Research Support, Non-U.S. Gov't, Adolescent, Adult, Aged, Aged, 80 and over, Child, Child, Preschool, China / epidemiology, Female, Health Personnel, Humans, Infant, Male, Middle Aged, Occupational Exposure, Risk Factors, Severe Acute Respiratory Syndrome / virology, Statistics, Nonparametric, Surveys and Questionnaires

An epidemic of severe acute respiratory syndrome (SARS) began in Foshan municipality, Guangdong Province, China, in November 2002. We studied SARS case reports through April 30, 2003, including data from case investigations and a case series analysis of index cases. A total of 1,454 clinically confirmed cases (and 55 deaths) occurred; the epidemic peak was in the first week of February 2003. Healthcare workers accounted for 24% of cases. Clinical signs and symptoms differed between children (<18 years) and older persons (> or =65 years). Several observations support the hypothesis of a wild animal origin for SARS. Cases apparently occurred independently in at least five different municipalities; early case-patients were more likely than later patients to report living near a produce market (odds ratio undefined; lower 95% confidence interval 2.39) but not near a farm; and 9 (39%) of 23 early patients, including 6 who lived or worked in Foshan, were food handlers with probable animal contact.
Robot-Assisted Laparoscopic Adrenalectomy for Rare Myxoid Adrenocortical Carcinoma
Authors: Grant Johnson, Kiran Thalody, Umesh Kapur, Thai T Nguyen
Journal: Case Rep Urol (2019)
MeSH terms: Case Reports

Background:
Surgical resection remains the standard treatment for adrenocortical carcinoma. Higher rates of local and peritoneal recurrence have been reported with the laparoscopic approach compared to open resection, although the evidence is limited. A dilemma occurs when tumors appear benign in nature, measure >5 cm, or when patients request a minimally invasive surgical approach. We describe the first reported case to date of successful robot-assisted laparoscopic adrenalectomy for myxoid variant adrenocortical carcinoma.
Case presentation:
A 38 year old female presented with a large 8.0 cm enhancing left adrenal mass concerning for pheochromocytoma, given refractory hypertension and symptoms of palpitations and headaches. Functional work up was negative. The patient underwent robot-assisted laparoscopic left adrenalectomy after appropriate alpha and beta blockade. Histological sections demonstrated a cortical neoplasm with prominent myxoid changes consistent with myxoid adrenocortical carcinoma. The patient's symptoms resolved and serial imaging demonstrated no recurrence three and nine months, post-operatively.
Conclusion:
Myxoid adrenocortical carcinoma is a rare and aggressive entity best managed with surgical resection. Though open resection for invasive adrenal cancer remains the gold standard, minimally invasive approaches are being increasingly used, whether deliberately or not. We describe the first reported robot-assisted laparoscopic adrenalectomy for invasive myxoid adrenocortical carcinoma.
Management of second metacarpal chronic osteomyelitis by induced membrane technique
Authors: William Tabib, Hanna Haddad
Journal: Case Reports Plast Surg Hand Surg (2018)
Keywords: induced membrane, bone repair, metacarpal, osteomyelitis
MeSH terms: Case Reports

Management of chronic osteoarticular infection of the hand is a true challenge. Several methods of treatment are described in the literature to eradicate the infection. We present a case in which chronic osteomyelitis of the second metacarpal was treated by induced membrane technique, with successful outcome and complete hand recovery.
Successful Management of Cryptococcal Meningitis and Bone Marrow Infiltration in a Young HIV/AIDS Patient: A Case Report and Review of the Literature
Authors: Sonika Patel, Marla Jalbut, Kimberly S Esham, David Stone
Journal: Case Rep Infect Dis (2019)
MeSH terms: Case Reports

Bone marrow cryptococcosis has been rarely reported in the literature, and there are no established treatment guidelines specific to this AIDS-related complication. The recommended treatment for AIDS-related invasive fungal treatments include amphotericin B and flucytosine which are associated with an array of complications making optimal treatment recommendations difficult. This case presentation represents an example of a patient with newly diagnosed AIDS and bone marrow cryptococcosis, which was successfully managed with an antifungal regimen adjusted to her comorbidities.
Primary plasma cell leukemia presenting as a thoracic mass
Authors: Marielle Igala, Regis Gothar Bopaka, Wiam Khtabi, Said Benchekroun, Asma Quessar
Journal: Pan Afr Med J (2014)
Keywords: plasma cells leukaemia, pulmonary embolism, thoracic mass
MeSH terms: Leukemia, Plasma Cell / diagnosis, Multiple Myeloma / diagnosis, Pulmonary Embolism / etiology, Case Reports, Antineoplastic Agents / adverse effects, Antineoplastic Agents / therapeutic use, Humans, Leukemia, Plasma Cell / pathology, Male, Middle Aged, Prognosis, Antineoplastic Agents

Primary Plasma cell leukaemia (pPCL) is a rare plasma cell (PC) malignancy. The strict criteria for the diagnosis is an absolute PC number greater 2 × 10(9)/L or a plasmocytosis accounting for > 20% of the differential white cell count that does not arise from a pre-existing multiple myeloma. pPCL was associated with aggressive clinic-biological features. Primary Plasma cell leukaemia is more characterised by an extra medullar involvement such as hepatomegaly, splenomegaly, lymphadenopathy, lepto-meningeal infiltration or extramedullary plasmocytomas. The prognosis of pPCL is very poor. We report the case of a fifty eight year-old man directed to the haematology department for diagnosis of pPCL revealed by a thoracic plasmocytomas mimicking a thoracic neoplasm. The patient received chemotherapy including a classic treatment for multiple myeloma but developed a pulmonary embolism. This case illustrates an uncommon presentation of pPCL the difficulty treating by multiple myeloma chemotherapy.
Jejunal Polyps out of Place: A Case of Gastric Heterotopia of the Jejunum
Authors: Siri A Urquhart, Nayantara Coelho-Prabhu
Journal: Case Rep Gastrointest Med (2020)
MeSH terms: Case Reports

Heterotopia is the presence of normal physiologic tissue in an atypical location. Gastric heterotopia has been described in various locations throughout the gastrointestinal tract, including the small intestine. Gastric heterotopia of the small intestine typically is asymptomatic but may present in several ways with symptoms of obstruction, bleeding, perforation, intussusception, or pain. However, gastric heterotopia is rare beyond the duodenum except for its frequent association with Meckel's diverticulum. This entity should be considered in the differential diagnosis of polypoid lesions presenting with symptoms of bleeding or obstruction especially in younger patients. We present a case of gastric heterotopia of the jejunum in a patient with a prior history of Meckel's diverticulectomy after he presented with obstructive symptoms. His symptoms improved following resection of two jejunal polyps via antegrade double-balloon assisted enteroscopy with fluoroscopy. On histopathlogical examination, findings were consistent with gastric heterotopia. This case highlights the importance of considering gastric heterotopia in the differential diagnosis of polypoid lesions located beyond the ligament of Treitz in younger patients presenting with obstructive symptoms.
Unusual dermoid cyst in oral cavity
Authors: Evanice Menezes Marçal Vieira, Alvaro Henrique Borges, Luis Evaristo Ricci Volpato, Alessandra Nogueira Porto, Artur Aburad Carvalhosa, Gilberto de Almeida Botelho, Matheus Coelho Bandeca
Journal: Case Rep Pathol (2014)

Dermoid cysts in oral cavity are unusual lesions. Their etiology is not yet clear and can be associated with trapped cells as a result of the inclusion error resulting in the development into the ectoderm, mesoderm, and endoderm tissues. The aim of this case report is to evidence the presence of a dermoid cyst in the floor of mouth surgically removed. In the present case, the lesion showed soft consistency, floating, regular borders, smooth surface, and the same color as the adjacent mucosa, asymptomatic and measuring 4.5 × 5.5 cm in its greatest diameter. The initial diagnostic was ranula in consequence of the similarity with clinical characteristics and localization. After surgical removal lesion, a fibrotic capsule was identified with a friable material with intensive yellow color. The microscopic exam showed cystic lesion with cavity lined by squamous stratified epithelium hyperorthokeratinized. Cutaneous attachments, such as sebaceous glands and hair follicles, were present in connective adjacent tissue. Surgical intervention is elective in these situations. All dentists must have a thorough knowledge of this unusual lesion.
Growth Concerns in Coffin-Lowry Syndrome: A Case Report and Literature Review
Authors: Ying Lv, Liuyan Zhu, Jing Zheng, Dingwen Wu, Jie Shao
Journal: Front Pediatr (2019)
Keywords: coffin–lowry, rsk2, growth hormone, growth retardation, pervasive development disorder
MeSH terms: Case Reports

Mutation of RPS6KA3 can induce Coffin-Lowry syndrome, an X-linked syndrome. The case here reported manifests its signature characteristic of short stature, facial dysmorphism, development retardation, hearing defect. The mutation of RPS6KA3 we detected by NGS analysis is c.2185 C > T. The short stature is a noteworthy problem we discuss here to improve the patient's growth and development. The efficacy and safety of application of growth hormone analogs on patients with CLS are not confirmed and need to be carefully considered.
Quinolone-Induced Painful Peripheral Neuropathy: A Case Report and Literature Review
Authors: Leonel J F Estofan, Stanislav Naydin, Gediminas Gliebus
Journal: J Investig Med High Impact Case Rep (2018)
Keywords: ivig, diabetes mellitus, levofloxacin, peripheral neuropathy

We present a case report of a 20-year-old male with diabetes mellitus type 1, who developed severe painful peripheral neuropathy while on the second of a 10-day course with levofloxacin for the treatment of epididymitis. The intensity of the pain rapidly reached scores of 10/10 in a numeric scale 0/10, and the patient was transferred to an inpatient pain unit where he was treated aggressively with minimal improvement. A skin biopsy revealed small fiber neuropathy. Then the patient was treated with intravenous immunoglobulin, which improved the pain. Now the patient is on outpatient intravenous immunoglobulin infusions bimonthly and making a slow recovery.
Tumoral calcinosis in the lumbar spine secondary to systemic sclerosis: a rare cause of radiculopathy in an adult with advanced disease
Authors: Afonso Celso Pedrotti Liberato, Lazaro Luiz Faria Do Amaral, Victor Hugo Rocha Marussi
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Calcinosis is frequently associated with systemic sclerosis (SSc) and can be located at various sites, although it is most commonly seen in the hands. When it presents around the synovial joints and is associated with a mass-like appearance, it is classically called tumoral calcinosis. Few cases of tumoral calcinosis have been reported in the paraspinal region. They are usually located in the cervical segment and rarely in the lumbar region. Occasionally, they have been associated with nerve root compression and intraspinal extension. We report the case of a 47-year-old female with advanced SSc who presented to our hospital's radiology department with chronic low back pain and right L5 radiculopathy due to tumoral calcinosis. An initial lumbar spine MRI showed multifocal, low signal, mass-like lesions involving the right paraspinal soft tissues. At the L5-S1 level, one lesion compressed the right L5 exiting nerve root. A CT scan of the lumbar spine performed later demonstrated the calcified nature of the lesions depicted by MRI and evidenced signs of pulmonary fibrosis at the base of the lungs. Further clinical work-up also showed that the patient had Raynaud's phenomenon, oesophageal dysmotility, sclerodactyly, dyspnoea, facial telangiectasias, generalized weakness and arthralgia. The diagnosis of a subtype of SSc, called limited cutaneous SSc, was made. Our case describes the CT and MRI findings of tumoral calcinosis in an unusual location secondary to limited cutaneous SSc. Knowledge of the imaging features of this uncommon manifestation of SSc could potentially increase its prospective diagnosis and hence improve patient management.
Alpha coma evolving into spindle coma in a case of acute fulminant hepatic failure: What does it signify?
Authors: Abhijit Das, Ajith Cherian, G K Dash, Ashalatha Radhakrishnan
Journal: Ann Indian Acad Neurol (2010)
Keywords: alpha coma, electroencephalogram, hepatic failure, metabolic encephalopathy, spindle coma
MeSH terms: Case Reports

A 44-year-old male developed acute fulminant hepatic failure of unknown etiology and expired within four days. His serial electroencephalograms (EEGs) showed diffuse background slowing on day one, which evolved into "alpha coma" and later into "spindle coma" over the ensuing two days. Such EEG transition is hitherto undescribed in patients with hepatic encephalopathy and gives fresh insight into the etiopathogenesis of specific EEG patterns in diffuse encephalopathy.
Providing Several Skills to Treat Complex Infectious Stones of Solitary Kidney in a Patient Failed to Undergo Percutaneous Nephrolithotomy: A Case Report
Authors: Dechao Feng, Wuran Wei
Journal: Front Surg (2021)
Keywords: case report, flexible ureteroscopy, infectious stones, percutaneous nephrolithotomy, staghorn stones
MeSH terms: Case Reports

Conservative treatment is closely associated with renal deterioration for patients with renal staghorn stones. It is well-recognized that percutaneous nephrolithotomy (PCNL) is recommended as the first-line treatment of renal stones larger than 2 cm due to its higher stone clearance and cost-effectiveness when compared with other treatment alternatives, such as shockwave lithotripsy and flexible ureteroscopy (FURS). Besides, our findings indicated that miniaturized PCNL could be served as an alternative to PCNL with a higher stone-free rate and a lower hemorrhage risk. Despite the higher cost-effectiveness of PCNL, the management of staghorn stones are still controversial in some special situations, such as a solitary kidney. Herein, we present a case with complex infectious stones of a right-sided solitary kidney, complaining of persistent pain in the right waist. The rarity of this case is that it is difficult to encounter these cotton-like staghorn stones which are clinically resistant to holmium laser lithotripsy, and the particularity is that the patient with solitary kidney failed to undergo PCNL. We found that the combination of intermittently high-frequency oscillation and flexible ureteroscopy forceps might contribute to treat the complex infectious stones in a patient with solitary kidney. Our surgical experience might be beneficial to such patients undergoing flexible ureteroscopy in clinical practice.
Renal Cell Carcinoma with Direct Extension into the Gonadal Vein, Uterus, Fallopian Tube, and Bilateral Ovaries: A Case Report
Authors: Sarah E Sweigert, Petar Bajic, Alessa Aragao, Maria Picken, Michael E Woods
Journal: J Kidney Cancer VHL (2020)
Keywords: gonadal vein, invasive, kidney cancer, ovary, renal cell carcinoma, uterus
MeSH terms: Case Reports

Renal cell carcinoma (RCC) with invasion into the renal vein is well described; however, invasion into the gonadal vein is a rare event with less than five cases reported in the literature. RCC occasionally presents with metastasis to the ovaries or the fallopian tubes, although this is also a rare occurrence. We present a case of locally advanced left RCC with direct extension into the ipsilateral gonadal vein with extension into the bilateral ovaries and uterus, which has not been previously described. Computed tomography (CT) in a 72-year-old female with a 35-pound weight loss indicated the presence of a 16-cm left renal mass with caudal tumor extension through the left gonadal vein and regional lymphadenopathy. There was no evidence of distant metastasis, and she underwent an open left radical nephrectomy. Intraoperatively, she was found to have direct extension of the tumor through the left gonadal vein into the uterus, bilateral ovaries, and the left fallopian tube. All visible disease was resected, and retroperitoneal and pelvic lymphadenectomy were performed. The patient had an uneventful hospital course. Pathology revealed clear cell RCC, Fuhrman grade 3. The final pathologic stage was pT4N1M1. The patient was ultimately noted to have pulmonary metastasis and was treated with immunotherapy with no evidence of disease progression.