OpenMed/multicare-articles huggingface dataset:
Case report: Unusual and extremely severe lipoprotein X-mediated hypercholesterolemia in extrahepatic pediatric cholestasis
Authors: Rossella Colantuono, Chiara Pavanello, Andrea Pietrobattista, Marta Turri, Paola Francalanci, Marco Spada, Pietro Vajro, Laura Calabresi, Claudia Mandato
Journal: Front Pediatr (2022)
Keywords: cholestasis, extra-hepatic, hypercholesterolemia, lipoprotein x, spontaneous biliary perforation
MeSH terms: Case Reports

Background:
Lipoprotein X (LpX) - mediated extremely severe hyperlipidemia is a possible feature detectable in children with syndromic paucity of intralobular bile ducts (Alagille syndrome) but rarely in other types of intra- and/or extrahepatic infantile cholestasis.
Case presentation:
Here we report on a previously well 18-month child admitted for cholestatic jaundice and moderate hepatomegaly. Laboratory tests at entry showed conjugated hyperbilirubinemia, elevated values of serum aminotransferases, gamma-glutamyl transpeptidase (GGT) and bile acids (100 folds upper normal values). Extremely severe and ever-increasing hypercholesterolemia (total cholesterol up to 1,730 mg/dl) prompted an extensive search for causes of high GGT and/or hyperlipidemic cholestasis, including an extensive genetic liver panel (negative) and a liver biopsy showing a picture of obstructive cholangitis, biliary fibrosis, and bile duct proliferation with normal MDR3 protein expression. Results of a lipid study showed elevated values of unesterified cholesterol, phospholipids, and borderline/low apolipoprotein B, and low high-density lipoprotein-cholesterol. Chromatographic analysis of plasma lipoproteins fractions isolated by analytical ultracentrifugation revealed the presence of the anomalous lipoprotein (LpX). Magnetic resonance cholangiopancreatography and percutaneous transhepatic cholangiography showed stenosis of the confluence of the bile ducts with dilation of the intrahepatic biliary tract and failure to visualize the extrahepatic biliary tract. Surgery revealed focal fibroinflammatory stenosis of the left and right bile ducts confluence, treated with resection and bilioenteric anastomosis, followed by the rapid disappearance of LpX, paralleling the normalization of serum lipids, bilirubin, and bile acids, with a progressive reduction of hepatobiliary enzymes.
Conclusion:
We have described a unique case of focal non-neoplastic extrahepatic biliary stenosis of uncertain etiology, presenting with unusual extremely high levels of LpX-mediated hypercholesterolemia, a condition which is frequently mistaken for LDL on routine clinical tests.
Unique branching pattern of aortic arch in a patient with aortopulmonary window
Authors: Venkatraman Bhat, Karthik Gadabanahalli, Rakesh Sharma, Sejal Shah
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Aortic arch (AA) anomalies are usually associated with congenital heart disease. Variations such as aberrant subclavian artery have significance if shunt surgery is planned. Other variations may be clinically insignificant or present with respiratory or oesophageal symptoms. Demonstration and understanding of arch anomalies are crucial for managing as well as improving our understanding of their embryological basis. This presentation illustrates an unusual branching pattern of AA in a patient with an aortopulmonary window in which five arteries independently arose from the AA. CT imaging appearance of the anomaly is illustrated. A brief description of the embryological basis and significance of the anomaly is presented.
Pulsatile tinnitus: treatment with clonazepam and propranolol
Authors: Sergio Albertino, Aída R M de Assunção, Jano A Souza
Journal: Braz J Otorhinolaryngol (2005)
MeSH terms: Adrenergic beta-Antagonists / therapeutic use, Clonazepam / therapeutic use, GABA Modulators / therapeutic use, Propranolol / therapeutic use, Tinnitus / drug therapy, Case Reports, Basilar Artery / pathology, Humans, Male, Middle Aged, Vertebral Artery / pathology, Adrenergic beta-Antagonists, GABA Modulators, Clonazepam, Propranolol

Pulsatile tinnitus synchronous with heartbeat is rare and normally has vascular origin: arterial (malformation, arterial anatomical variation) or venous (aberrant jugular bulb, glomus tumors, tympanic glomus tumor). Early etiology identification is essential for appropriate treatment to be established. Magnetic angioresonance makes the vascular identification possible and precise. We report a case of arterial anatomical variation in which the treatment was propranolol and clonazepam, showing tinnitus improvement.
Subcutaneous Sarcoidosis during Pegylated Interferon Alfa and Ribavirin Treatment for Chronic Hepatitis C
Authors: R Rodríguez-Lojo, M Almagro, J M Barja, F Piñeyro, L Pérez-Varela, J Del Pozo, M T Yebra-Pimentel, E Fonseca
Journal: Dermatol Res Pract (2010)
MeSH terms: Case Reports

Interferon is used to treat hepatitis C virus infection and its cutaneous side effects are well known. Recently, interferon-induced sarcoidosis has been reported. We report a new case of sarcoidosis during pegylated interferon alfa and ribavirin treatment with an unusual presentation in a woman with previous episodes of erythema nodusum and nodular vasculitis related to HCV.
Vertigo and Severe Balance Instability as Symptoms of Lyme Disease-Literature Review and Case Report
Authors: Magdalena Jozefowicz-Korczynska, Ewa Zamyslowska-Szmytke, Anna Piekarska, Oskar Rosiak
Journal: Front Neurol (2019)
Keywords: lyme disease, dizziness, neuroborreliosis, vertigo, vestibular rehabilitation
MeSH terms: Case Reports

Lyme disease is caused by a tick-borne bacterium Borrelia sp. This zoonotic infection is common in the Northern Hemisphere, e.g., Europe. Clinical presentation may involve multisystem symptoms and depends on the stage of the disease. The involvement of nervous system in Lyme disease is commonly referred to as neuroborreliosis. Neuroborreliosis may involve meningitis, mononeuritis multiplex, or cranial neuritis including the inflammation of vestibulocochlear nerve. In the late or chronic stage of Lyme disease, vestibular involvement may be the sole presentation, although such cases are rare. Our study was designed to present our own case and review the available literature reporting cases of neuroborreliosis with vertigo/dizziness and severe balance instability as a main disease symptom. The studies were obtained by searching the following databases: PubMed, Medline, and Embase. We included case reports of Lyme disease presenting with vertigo or gait disorders as the main symptom, written in the English language. Initially, 60 papers were identified. After analyzing the abstracts, seven manuscripts focusing on 13 clinical cases were included in this review. We conclude that the patients with neuroborreliosis sometimes present vertigo/dizziness, but rarely gait ataxia as a sole symptom. These complaints are usually accompanied by a hearing loss. Antibiotic treatment is usually effective. Balance instability in the patients with neuroborreliosis may persist but it responds well to vestibular rehabilitation.
From Bad to Worse: Paraganglioma Diagnosis during Induction of Labor for Coexisting Preeclampsia
Authors: Sasima Dusitkasem, Blair H Herndon, Dalton Paluzzi, Joseph Kuhn, Robert H Small, John C Coffman
Journal: Case Rep Anesthesiol (2017)
MeSH terms: Case Reports

Pheochromocytomas and extra-adrenal paragangliomas are catecholamine-secreting tumors that rarely occur in pregnancy. The diagnosis of these tumors in pregnancy can be challenging given that many of the signs and symptoms are commonly attributed to preeclampsia or other more common diagnoses. Early diagnosis and appropriate management are essential in optimizing maternal and fetal outcomes. We report a rare case of a catecholamine-secreting tumor in which diagnosis occurring at the time labor was being induced for concomitant preeclampsia with severe features. Her initial presentation in hypertensive crisis with other symptoms led to diagnostic workup for secondary causes of hypertension and led to eventual diagnosis of paraganglioma. Obtaining this diagnosis prior to delivery was essential, as this led to prompt multidisciplinary care, changed the course of her clinical management, and ultimately enabled good maternal and fetal outcomes. This case highlights the importance of maintaining a high index of suspicion for secondary causes of hypertension and in obstetric patients and providing timely multidisciplinary care.
Thyroid dysfunction from inhibitor of fibroblast growth factor receptor
Authors: Jeffrey Ahn, Justin Moyers, John Wong, Chung-Tsen Hsueh
Journal: Exp Hematol Oncol (2019)
Keywords: azd4547, case report, fibroblast growth factor receptor, hypothyroidism, thyroid dysfunction, tyrosine kinase inhibitor, urothelial cancer
MeSH terms: Case Reports

Background:
Thyroid dysfunction has not been previously reported in clinical trials of selective fibroblast growth factor receptor (FGFR) inhibitors including AZD4547. Herein, we report a case of worsening hypothyroidism in a patient with advanced urothelial cancer treated with AZD4547.
Case presentation:
An 80-year-old Caucasian female with metastatic urothelial carcinoma failed first-line chemotherapy with gemcitabine and carboplatin and second-line treatment with atezolizumab, an inhibitor of programmed cell death ligand 1. She developed hypothyroidism at completion of atezolizumab treatment and responded to levothyroxine. Subsequently she was enrolled to a phase II study and received AZD4547 due to an actionable mutation at FGFR3 found in tumor biopsy. Two months later, she experienced recurrent hypothyroidism symptoms, and was hospitalized twice for small bowel obstruction. Her thyroid stimulating hormone level was significantly increased to 2957 uIU/mL (reference range 0.8-7.7 uIU/mL). Her levothyroxine dose was increased accordingly. Her thyroid function returned to normal 1 month afterwards, and small bowel obstruction did not recur.
Conclusion:
Further reports and studies will be needed to confirm the relationship between AZD4547 and hypothyroidism. Based on this observation and possible mechanisms for thyroid dysfunction discussed in this paper, routine thyroid function monitoring in patients receiving FGFR inhibitor should be considered.
Popliteal artery entrapment syndrome presenting with acute limb ischaemia: a case report
Authors: Ramawad Soobrah, Adam Nawaz, Tahir Hussain
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Popliteal artery entrapment syndrome (PAES) is a relatively rare condition that occurs in young patients as a result of anomalous anatomic relationships between the popliteal artery and the surrounding musculotendinous structures. Patients usually lack atherogenic risk factors and most commonly present with intermittent claudication in the early stages. In the later stages of undiagnosed PAES, acute ischaemia can occur as a result of complete arterial occlusion or embolism. Hence, early diagnosis and surgical release of the entrapment is crucial for good operative outcome and to prevent limb loss.
Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea
Authors: Yu Zheng, Yuming Peng, Shuju Zhang, Hongmei Zhao, Weijian Chen, Yongjia Yang, Zhengmao Hu, Qiang Yin, Yu Peng
Journal: Front Genet (2022)
Keywords: myo5b, rna splicing, cholestasis, diarrhea, intron retention, microvillus inclusion, minigene assay
MeSH terms: Case Reports

Background: Biallelically mutated MYO5B is associated with microvillus inclusion disease (MVID, MIM: 251850), cholestasis, or both. This study aims at validating the splicing alteration and clinical features of an intron variant for diagnosis. Case Presentation: A homozygous variant of MYO5B, NM_001080467.2:c.2090+3A > T (NP_001073936.1:p.?) in intron 17, was identified in a patient suffering from chronic cholestasis and diarrhea. Functional validation showed that this variant caused 185 bp of intron retention in its mRNA and was predicted to present a premature translation termination site for myoVb (p.Arg697fs*47) in the head motor domain. In addition, bowel biopsy revealed decreased microvilli and local lesions of microvillus inclusion in the duodena of the patient. The patient was presented with neonatal cholestasis leading to cirrhosis, intractable diarrhea, cholelithiasis, hepatic cyst, corneal opacity, and failure to thrive. Conclusion: Our study demonstrated an intronic homozygous variant of MYO5B that affected an intron, subsequently altering splicing and leading to combined cholestasis and MVID. Our results further supported the underlying genotype-phenotype correlations and extended clinical practices toward its diagnosis and management.
Technical Case Report of a Cranioplasty With ex vivo Frozen Ostoblastic Bone Graft From Large Skull Metastasis
Authors: Pang-Shuo Perng, Po-Hsuan Lee, Hao-Hsiang Hsu, Chi-Chen Huang, Chih-Yuan Huang, Jung-Shun Lee
Journal: Front Surg (2021)
Keywords: bone healing, cranioplasty, cryotherapy, metastasis, osteoblastic differentiation
MeSH terms: Case Reports

Objective: Liquid nitrogen cryotherapy has shown efficacy in the treatment of bone tumors of the extremities with good oncologic and functional outcomes. However, its application in metastatic skull tumors has been rarely reported and whether the adjuvant radiotherapy affects the future bone healing is not yet explored. We report an immediate cranioplasty with the resected osteoblastic bone, which underwent ex vivo cryotherapy, and discuss the surgical techniques and postoperative images. Methods: A 58-year-old man with esophageal adenocarcinoma, undergoing chemoradiotherapy, presented with a rapidly enlarging scalp mass for 5 months. Imaging revealed an enhancing mass, centered in the frontal skull bone with extracranial and intracranial invasion, suggestive of osteoblastic metastasis. After preoperative transarterial embolization, the tumor was excised en bloc. Immediate cranioplasty was performed with the osteoblastic bone graft after ex vivo cryotherapy. It was soaked in liquid nitrogen for 20 min, thawed at room temperature for 15 min, and soaked in povidone-iodine solution for 10 min. Then, the bone graft was fixed to its original place. Pathologic examination revealed metastasis originating from the esophagus. He underwent adjuvant radiotherapy for local tumor control. Results: He had an uneventful clinical course without any neurologic deficit. Brain imaging during the six-month follow-up showed no tumor recurrence and partial bony union. Conclusions: Cranioplasty using an autologous bone graft with ex vivo cryotherapy was helpful in the reconstruction of osteoblastic metastatic skull tumor treatment. It was a simple and cost-effective procedure that achieved satisfactory cosmetic results without negatively impacting bone healing, even after adjuvant radiotherapy.
Laparoscopic resection of an adrenal oncocytic neoplasm: Report of a case and review of the literature
Authors: P St-Amour, R Djafarrian, T Zingg, S La Rosa, N Demartines, M Matter
Journal: Int J Surg Case Rep (2020)
Keywords: adrenal oncocytic neoplasm, adrenalectomy, endocrine surgery
MeSH terms: Case Reports

Introduction:
Oncocytic adrenal neoplasms are rare and mostly benign lesions. Available literature supports indication for a surgical resection, but criteria to predict aggressive behavior are unreliable, thus making decision of surgical approach (laparotomy versus laparoscopy), and extent of resection, difficult to define.
Presentation of case:
This is the case of a 46-year-old male, with an incidental finding of a 10 cm asymptomatic tumor in the left adrenal gland identified by MRI, performed in the setting of the initial assessment of liver steatosis. Adrenal hormone levels were in the normal range, thus, a CT-guided needle biopsy was performed and showed an adrenocortical oncocytic neoplasm. A laparoscopic left adrenalectomy was performed sparing the adjacent left kidney. Histological examination of the resected tumor showed a 10 cm oncocytic adrenocortical neoplasm of uncertain malignant potential with negative resection margins. A follow-up MRI was scheduled at six months after surgery, and no recurrence was found.
Conclusions:
Although rare, oncocytic neoplasms should be included in the differential diagnosis of adrenal "incidentalomas". Determination of their malignant potential is difficult in the preoperatory setting. Final diagnosis is based on histological analysis of the whole surgical specimen. Laparoscopic complete excision with negative resection margins is feasible and safe.
Analysis of Clinical Symptoms of Guillain-Barré Syndrome Induced by Heat Stroke: Three Case Reports and Literature Review
Authors: Xiao-Xiao Ni, Cong-Lin Wang, Ye-Qun Guo, Zhi-Feng Liu
Journal: Front Neurol (2022)
Keywords: guillain-barré syndrome, heat stroke, nervous injury, nervous system, peripheral neuropathy
MeSH terms: Case Reports

Background:
Heat stroke is a potentially fatal condition that is caused by elevated core temperature. Guillain-Barré syndrome (GBS) induced by heat stroke is extremely rare and has only been reported in few case reports. The purpose of this case study was to evaluate the clinical symptoms, neuroelectrophysiological and imageological features of GBS after heat stroke.
Methods:
We reviewed our hospital records and previously published reports to find the cases of GBS after heat stroke. The clinical, imageological, and electrophysiological profiles, treatment and prognosis were presented and analyzed.
Results:
We retrieved three cases of GBS induced by heat stroke from our hospital, which presented as lesions on multiple cranial and peripheral nerves and albuminocytologic dissociation in the cerebrospinal fluid. All of these patients had disorders of consciousness at the early stage of heat stroke and a "pseudo-recovery period" after they recovered from coma after heat stroke. After immunoglobulin administration and immunoregulation therapy, these patients' neurological deficiencies were relieved significantly. But there are still disabilities and almost totally reliant on others.
Conclusions:
The number of the cases of GBS induced by HS reported in this study has been the most in the recent 5 years. Clinicians should pay attention to patients with heat stroke with sustained coma and the sudden quadriplegia. Early, exact and timely diagnosis and treatment of GBS need to be performed, to accelerate recovery and improve prognosis.
General anaesthesia for laparoscopic cholecystectomy in a patient with the kearns-sayre syndrome
Authors: Paolo Calzavacca, Walter Schmidt, Manuela Guzzi
Journal: Case Rep Anesthesiol (2011)
MeSH terms: Case Reports

We report a case of a 40-year-old man affected by the Kearns-Sayre syndrome who underwent an elective laparoscopic cholecystectomy under general anaesthesia. We describe the management of general anaesthesia in this rare myopathy, with emphasis on the use of rocuronium as muscle blocking agent. Induction was achieved with propofol and fentanyl, and general anaesthesia was maintained with fentanyl and sevoflurane/N(2)O/O(2) mixture. The anaesthetic plan proved to be safe and effective, and extubation was achieved in the operating theatre. The postoperative recovery of the patient was satisfactory and uneventful.
Cognitive Behavioral Therapy for Three Patients with Bipolar II Disorder during Depressive Episodes
Authors: Yasuhiro Kimura, Sayo Hamatani, Kazuki Matsumoto, Eiji Shimizu
Journal: Case Rep Psychiatry (2020)
MeSH terms: Case Reports

Bipolar II disorder is a recurrent mental health disorder characterized by alternating hypomanic and depressive episodes. Providing cognitive behavioral therapy (CBT) as an adjuvant to pharmacotherapy can reduce the recurrence rate of bipolar disorder. It has not been examined whether CBT can be started during a depressive episode in patients with bipolar II disorder; however, the use of CBT during the remission period has been demonstrated to reduce recurrence. The current study is a case report involving three Japanese patients with bipolar II disorder, who started CBT during the depressive phase after a hypomanic episode was stabilized by pharmacotherapy. All patients experienced excessively positive thinking one week apart and were able to choose behaviors that would stabilize bipolar mood by observing its precursors. After intervention, patients' bipolar mood according to the Internal State Scale (ISS) and the Beck Depression Inventory-II (BDI-II) was improved. Our findings suggested that providing CBT to patients with bipolar II disorder during depressive episodes as an adjunct to pharmacotherapy is feasible.
Antimicrobial Resistance Analysis of Clinical Escherichia coli Isolates in Neonatal Ward
Authors: Dan Wu, Yijun Ding, Kaihu Yao, Wei Gao, Yajuan Wang
Journal: Front Pediatr (2021)
Keywords: e-test, esbl, escherichia coli, antimicrobial drug resistance, neonate
MeSH terms: Case Reports

Background: Escherichia coli (E. coli) column for one of the most common pathogens causing neonatal infections. The emergence of antibiotic-resistant bacteria is a major cause of treatment failure in infected newborns. The purpose of this study was to describe antibiotic and multidrug resistance of E. coli strains isolated from neonates with infection throughout the years 2009-2011. Methods: The antimicrobial susceptibility testing of E. coli strains to selected antibiotics was assessed using the E-test technique on the Mueller-Hinton agar. The antimicrobial tests included ceftazidime, cefuroxime, cefatriaxone, amoxicillin, amoxicillin-clavulanic acid, cefoperazone- sulbactam, meropenem, gentamicin, ciprofloxacin, and sulfonamides. Results: A total of 100 E. coli strains were isolated from sputum (n = 78), blood (n = 10), cerebrospinal fluid (n = 5), and umbilical discharge (n = 7) samples of hospitalized neonates at the Beijing Children's Hospital. The highest rate of E. coli resistance was found in amoxicillin (85%), followed by cefuroxime (65%), and cefatriaxone (60%), respectively. A total of 6 and 5% of all isolates were only resistant to amoxicillin/clavulanic acid and cefoperazone -sulbactam. The rates of resistance to ceftazidime, gentamicin, ciprofloxacin, and sulfonamides were 31, 20, 33, and 47%, respectively. All isolates were susceptible to meropenem. Approximately 26% of all E. coli isolates were multidrug-resistant. The detection rate of ESBL-Producing E. coli was 55%. Conclusions: Multi-drug-resistant E. coli has become an important and complex problem in clinical treatment, and it is thus essential to monitor E. coli resistance in neonates.