scholarly journals Intra-articular venous malformations of the knee: a diagnostic challenge

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Federico Diomeda ◽  
Maria Santaniello ◽  
Giulia Bracciolini ◽  
Angelo Ravelli ◽  
Adele Civino
Keyword(s):  
Early Recognition ◽  
Young Patients ◽  
Clinical Manifestations ◽  
Case Series ◽  
Venous Malformations ◽  
Mri Imaging ◽  
Diagnostic Challenge ◽  
Complete Excision ◽  
Hyperintense Signal ◽  
Hypointense Signal

Abstract Background Intra-articular venous malformations (IAVM) are rare benign vascular anomalies that usually affect young patients and most common locate in the knee. The terminology of these lesions is still ill-defined, as they are often termed in the literature as synovial hemangiomas. Early diagnosis can be difficult, because they usually present with nonspecific clinical manifestations that are similar those of other rheumatic diseases, especially juvenile idiopathic arthritis (JIA). Case series We conducted a retrospective analysis of five pediatric patients admitted to our units for recurrent swelling of the knee, and compared their characteristics with those of literature reports. The average age at first symptom and time from onset to diagnosis was 3.9 years (range 18 months-7 years) and 3.5 years (range 1-7 years), respectively. In our patients, an initial misdiagnosis of JIA, bleeding disorder or traumatic arthropathy was made. On MRI imaging, the features of the lesion were similar in all patients, and were marked by isointense-to-hypointense signal in T1-weighted images, and hyperintense signal in T2-weighted images. When performed, arthrocentesis led to aspiration of bloody fluid. The diagnosis was confirmed with a biopsy and histopathologic assessment in all patients. Open surgery enabled complete excision of the mass and was followed by stable remission over time in all cases. Conclusions Our report highlights the challenges that may be posed by the detection of knee IAVM and the frequent long delay between onset of symptoms and diagnosis. The key elements for early recognition include careful assessment of patient history, demonstration of bloody fluid on arthrocentesis, and proper interpretation of MRI scanning.

scholarly journals Therapeutic evaluation of sclerotherapy for limb venous malformations: A case series

2020 ◽  
Vol 35 (9) ◽  
pp. 663-671
Author(s):  
Tenghui Zhan ◽  
Fanggang Cai ◽  
Pingfan Guo ◽  
Yujie Lian ◽  
Hui Zhuang ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Doppler Ultrasound ◽  
Clinical Examination ◽  
Clinical Manifestations ◽  
Case Series ◽  
Venous Malformations ◽  
Resonance Imaging ◽  
Percutaneous Sclerotherapy

Objectives To examine three different methods for evaluating the effect of percutaneous sclerotherapy on limb venous malformations in a series of patients with a relatively long follow-up. Method The study was a retrospective study. Results Thirty-eight patients treated with percutaneous sclerotherapy underwent sclerotherapy, with a median number of sessions of 4 (range, 1–10). They were followed up for 1–60 months (average 12.5 months). The kappa between clinical manifestations and Doppler ultrasound was 0.684 ( P < 0.001). The kappa between clinical manifestations and magnetic resonance imaging was 0.217 ( P = 0.006). The kappa between Doppler ultrasound and magnetic resonance imaging was 0.323 ( P < 0.001). The rate of grade IV patients evaluated by clinical manifestations was significantly higher than that by Doppler ultrasound and magnetic resonance imaging. Conclusions Magnetic resonance imaging is the gold standard for VM imaging. Its consistency with clinical examination and Doppler ultrasound is poor, and Doppler ultrasound and clinical examination could be more appropriate for follow-up imaging after sclerotherapy.

scholarly journals SAT-579 Experiences with Hypertriglyceridemic Pancreatitis: A Mini Case Series

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Priyanka Majety ◽  
Richard D Siegel
Keyword(s):  
Acute Pancreatitis ◽  
Abdominal Pain ◽  
Early Recognition ◽  
Rare Complication ◽  
Case Series ◽  
Diagnostic Challenge ◽  
Eruptive Xanthomas ◽  
History Of ◽  
Appropriate Therapy ◽  
Pruritic Skin

Abstract Background: Hypertriglyceridemia (HTG) is a well-established cause of acute pancreatitis (AP) in up to 14% of all cases & up to 56% cases during pregnancy. The triad of HTG, Diabetic ketoacidosis (DKA) and AP is rarely seen posing diagnostic challenges. Early recognition of HTG-induced pancreatitis (HTGP) is important to provide appropriate therapy & prevent recurrence. In this case series, we discuss the diagnostic challenges and clinical features of HTGP. Clinical cases: Our first patient was a 65-year-old male with a history of hypertension who presented to the ER with abdominal pain and new-onset pruritic skin rash after a heavy meal. His exam and labs were notable for a diffuse papular rash on his back, triglycerides (TG) of 7073mg/dL (normal: &lt;150mg/dL). The rash improved with the resolution of HTG. Our second patient was a 29-year-old male with a history of alcohol dependence who was found to have AP complicated by ARDS requiring intubation. Further testing revealed that his TG was 12,862mg/dL & his sodium (Na) was 102mEq/L. Although HTG was known to cause pseudohyponatremia, it was a diagnostic challenge to estimate the true Na level. In a third scenario, a 28-year-old female with a history of T2DM on Insulin presented with nausea & abdominal pain. Labs were suggestive of DKA and lipase was normal. CT abdomen showed changes consistent with AP. The TG level that was later added on was elevated to 4413mg/dL. She was treated with insulin that improved her TG level. Discussion: We present three cases of hypertriglyceridemic pancreatitis. While the presentation can be similar to other causes of acute pancreatitis (AP), there are factors in the diagnosis and management of HTGP that are important to understand. Occasionally, physical exam findings can be suggestive of underlying HTG. In the first scenario, our patient presented with eruptive xanthomas - a sudden eruption of crops of papules that can be pruritic. They are highly suggestive of HTG, often associated with serum TG levels &gt; 1500mg/dL. Our second patient presented with pseudohyponatremia. HTG falsely lowers Na level, by affecting the percentage of water in plasma. Identifying this condition is important to prevent possible complications from aggressive treatment. This can be corrected either by using direct ion-specific electrodes or with the formula: Na change = TG * 0.002. DKA is associated with mild-moderate HTG in 30–50% cases. This is due to insulin deficiency causing activation of lipolysis in adipocytes & decreased activity of lipoprotein lipase (LPL). However, severe HTG is a rare complication of DKA, increasing the risk of AP. Diagnosis of AP in DKA poses many challenges: the common presenting complaint of abdominal pain, non-specific hyperlipasemia in DKA. AP with DKA has also been associated with normal lipase levels. A high clinical index of suspicion is required to diagnose HTGP in patients with DKA.

Acute low-pressure hydrocephalus: a case series and systematic review of 195 patients

2020 ◽  
pp. 1-9 ◽  
Author(s):  
Michael B. Keough ◽  
Albert M. Isaacs ◽  
Geberth Urbaneja ◽  
Jarred Dronyk ◽  
Andrew P. Lapointe ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Early Recognition ◽  
Delayed Diagnosis ◽  
Clinical Manifestations ◽  
Case Series ◽  
Low Pressure ◽  
Adult Patients ◽  
Definitive Treatment ◽  
Third Ventriculostomy ◽  
Shunt Insertion

OBJECTIVEAcute low-pressure hydrocephalus (ALPH) is characterized by clinical manifestations of an apparent raised intracranial pressure (ICP) and ventriculomegaly despite measured ICP that is below the expected range (i.e., typically ≤ 5 cm H2O). ALPH is often refractory to standard hydrocephalus intervention protocols and the ICP paradox commonly leads to delayed diagnosis. The aim of this study was to characterize ALPH and develop an algorithm to facilitate diagnosis and management for patients with ALPH.METHODSEMBASE, MEDLINE, and Google Scholar databases were searched for ALPH cases from its first description in 1994 until 2019. Cases that met inclusion criteria were pooled with cases managed at the authors’ institution. Patient characteristics, presenting signs/symptoms, precipitating factors, temporizing interventions, definitive treatment, and patient outcomes were recorded.RESULTSThere were 195 patients identified, with 42 local and 153 from the literature review (53 pediatric patients and 142 adults). Decreased level of consciousness was the predominant clinical sign. The most common etiologies of hydrocephalus were neoplasm and hemorrhage. While the majority of ALPH occurred spontaneously, 39% of pediatric patients had previously undergone a lumbar puncture. Prior to ALPH diagnosis, 92% of pediatric and 39% of adult patients had a ventricular shunt in situ. The most common temporizing intervention was subatmospheric CSF drainage. The majority of patients underwent a shunt insertion/revision or endoscopic third ventriculostomy as definitive ALPH treatment. Although the mortality rate was 11%, 83% of pediatric and 49% of adult patients returned to their pre-ALPH neurological functional status after definitive treatment. Outcomes were related to both the severity of the underlying neurosurgical disease causing the hydrocephalus and the efficacy of ALPH treatment.CONCLUSIONSALPH is an underrecognized variant phenotype of hydrocephalus that is associated with multiple etiologies and can be challenging to treat as it frequently does not initially respond to standard strategies of CSF shunting. With early recognition, ALPH can be effectively managed. A management algorithm is provided as a guide for this purpose.

scholarly journals Case Report: Perioperative Kounis Syndrome in an Adolescent With Congenital Glaucoma

2021 ◽  
Vol 8 ◽  
Author(s):  
Guglielmo Capponi ◽  
Mattia Giovannini ◽  
Ioanna Koniari ◽  
Francesca Mori ◽  
Chiara Rubino ◽  
...  
Keyword(s):  
Cell Activation ◽  
Early Recognition ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Case Series ◽  
Left Ventricular ◽  
Mast Cell Activation ◽  
Congenital Glaucoma ◽  
Kounis Syndrome ◽  
Coronary Syndrome

A 12-year-old male patient suffering from congenital glaucoma developed bradycardia, left ventricular failure, and hypotension after induction of anesthesia. Electrocardiography and echocardiography revealed a complete normalization of ECG and a complete spontaneous recovery in the cardiac function 72 hours from the beginning of the clinical manifestations, while cardiac Magnetic Resonance Imaging was performed, and coronary Computed Tomography scan revealed a myocardial bridge of a tract of the left anterior descendent coronary artery. Diagnosis of Kounis syndrome (KS) was made, a relatively novel, under-recognized clinical condition, defined as the manifestation of an acute coronary syndrome accompanied by mast cell activation and platelet aggregation involving interrelated and interacting inflammatory cells in the setting of allergic, hypersensitivity, anaphylactic or anaphylactoid insults. We described one of the first pediatric cases of KS related to anesthetic medications. In children, this syndrome has been only described in isolated case reports or small case series. Thus, it appears critical to report new cases of KS in children to increase the awareness of this disease in pediatric healthcare workers so as to enhance its early recognition and optimal therapeutic strategy. Furthermore, it appears of paramount importance the implementation of universal guidelines accepted by allergology and cardiology societies, in order to standardize the management of pediatric and adult patients with KS. Finally, a close collaboration between pediatric allergists and cardiologists seems fundamental for an optimal multidisciplinary patient care.

scholarly journals Case Report: Cariprazine Efficacy in Young Patients Diagnosed With Schizophrenia With Predominantly Negative Symptoms

2021 ◽  
Vol 12 ◽  
Author(s):  
Octavian Vasiliu
Keyword(s):  
Adverse Events ◽  
Clinical Global Impression ◽  
Negative Symptoms ◽  
Atypical Antipsychotics ◽  
Partial Agonist ◽  
D2 Receptor ◽  
Young Patients ◽  
Clinical Manifestations ◽  
Case Series ◽  
Global Functioning

Negative symptoms of schizophrenia are among the most invalidating clinical manifestations of this disorder, and they are correlated with poorer prognosis, lower quality of life, and fewer chances for successful social reintegration and professional rehabilitation. Although atypical antipsychotics have been associated with higher efficacy on negative symptoms than typical agents, not all of them are equally effective. Cariprazine is a new D3 and D2 receptor partial agonist, and its high D3 affinity may be useful for decreasing several adverse events (e.g., extrapyramidal symptoms or hyperprolactinemia), and also for increasing this drug's efficacy over negative symptoms. This case series presents three young adults with predominantly negative symptoms during treatment with an atypical antipsychotic, administered in stable dose within the therapeutic range, and for at least 4 weeks prior to the cariprazine switch. These patients (two male and one female, mean age 35.7 years) were diagnosed with schizophrenia, according to the DSM-5 criteria. They were evaluated using Positive and Negative Syndrome Scale (PANSS), Clinical Global Impression-Severity (CGI-S), and Global Assessment of Functioning (GAF). Their mean initial values were 80.3 on PANSS, 4.3 on CGI-S, and 48 on GAF. All these patients were already on a treatment with stable doses of atypical antipsychotics (olanzapine 10 mg/day, n = 1, risperidone 6 mg/day, n = 1, and quetiapine 600 mg/day, n = 1). Cross-titration to cariprazine was initiated, from 1.5 mg qd up to 6 mg qd, during a mean period of 2.7 weeks. After 12 weeks of cariprazine 6 mg/day, the positive scale of PANSS was relatively stable compared to baseline, while the negative mean score decreased by 22%. Also, the mean CGI-S improvement was 15.4% and the GAF mean score increased by 17%. The overall tolerability was good, without severe adverse events being reported. Conclusions: Cariprazine is well tolerated and efficient for patients diagnosed with schizophrenia who have significant negative symptoms that impair daily functioning. After 12 weeks cariprazine succeeded in improving negative symptoms, global functioning, and clinical global impression.

Fascicular torsions of the anterior and posterior interosseous nerve in 4 cases: neuroimaging methods to improve diagnosis

2020 ◽  
Vol 132 (6) ◽  
pp. 1925-1929 ◽  
Author(s):  
Jennifer Kollmer ◽  
Paul Preisser ◽  
Martin Bendszus ◽  
Henrich Kele
Keyword(s):  
Magnetic Resonance ◽  
Surgical Intervention ◽  
Case Series ◽  
Diagnostic Methods ◽  
Posterior Interosseous Nerve ◽  
Nerve Ultrasound ◽  
Magnetic Resonance Neurography ◽  
Surgical Exploration ◽  
Hyperintense Signal ◽  
Emergency Surgical Intervention

Diagnosis of spontaneous fascicular nerve torsions is difficult and often delayed until surgical exploration is performed. This case series raises awareness of peripheral nerve torsions and will facilitate an earlier diagnosis by using nerve ultrasound (NUS) and magnetic resonance neurography (MRN). Four patients with previously ambiguous upper-extremity mononeuropathies underwent NUS and 3T MRN. Neuroimaging detected proximal torsions of the anterior and posterior interosseous nerve fascicles within median or radial nerve trunks in all patients. In NUS, most cases presented with a thickening of affected nerve fascicles, followed by an abrupt caliber decrease, leading to the pathognomonic sausage-like configuration. MRN showed T2-weighted hyperintense signal alterations of fascicles at and distal to the torsion site, and directly visualized the distorted nerves. Three patients had favorable outcomes after being transferred to emergency surgical intervention, while 1 patient with existing chronic muscle atrophy was no longer eligible for surgery. NUS and MRN are complementary diagnostic methods, and both can detect nerve torsions on a fascicular level. Neuroimaging is indispensable for diagnosing fascicular nerve torsions, and should be applied in all unclear cases of mononeuropathy to determine the diagnosis and if necessary, to guide surgical therapies, as only timely interventions enable favorable outcomes.

DIAGNOSTIC VALUE OF SPECIFIC ANTIBODY SYNTHESIS IN BRAIN OF PATIENTS WITH NEUROINFECTIONS

2019 ◽  
Vol 72 (8) ◽  
pp. 1437-1441
Author(s):  
Pavel Dyachenko ◽  
Igor Filchakov ◽  
Anatoly Dyachenko ◽  
Victoria Kurhanskaya
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Clinical Manifestations ◽  
Diagnostic Value ◽  
Diagnostic Challenge ◽  
Specific Antibodies ◽  
Intrathecal Synthesis ◽  
Varicella Zoster ◽  
Mrz Reaction ◽  
Wide Range

Introduction: Viral encephalitis accounts for 40-70% of all cases worldwide, central nervous system infections pose a diagnostic challenge because clinical manifestations are not typically pathognomonic for specific pathogens, and a wide range of agents can be causative. The aim: To assess the diagnostic value of intrathecal synthesis of specific antibodies in patients with inflammatory lesions of the central nervous system. Materials and methods: Within the framework of the study, two groups of 90 people in each were formed from the patients with neuroinfections admitted to our Center. Intrathecal synthesis (ITS) of total (unspecific) IgG in members of one of group (group of compare) was determined. Brain synthesis of specific antibodies (Ab) to some neurotropic pathogens (herpes simplex virus 1/2, cytomegalovirus, Epstein-Barr virus, varicella zoster virus, rubella virus, Borrelies) was studied in the second group of patients (group of interest). There were no statistically significant differences between groups by gender and age. Encephalitis and encephalomyelitis prevailed among patients of both groups Results: ITS of total IgG was established in 30 (33.3 ± 6.1 %) patients of the first group with IgG index more than 0.6 indicating on inflammatory process in CNS and no marked changes of CSF. ITS of specific Ab was determined in 23 of 90 (25.6 ± 4.6 %) patients included into group of interest. In more than half of cases Ab to several infectious agents were detected simultaneously. ITS of various specificity, in particular, to measles and rubella viruses, and VZV, known as MRZ-reaction, is characteristic of some autoimmune lesions of CNS, multiple sclerosis first of all. In fact, further research of 5 patients with MRZ-reaction confirmed their autoimmune failure of CNS. Detection of ITS in the CSF samples didn’t depend on concentration of specific Ab in serum and CSF and wasn’t followed by HEB dysfunctions which were observed with the same frequency in patients with or without ITS (13.0 % and 13.6 % respectively). Conclusion: Specific Ab synthesis to several neurotropic pathogens in the CSF of significant part of examined patients was established. Thus, diagnostic value of ITS of specific immunoglobulins seems to be limited to cases in which autoimmune damage of the CNS is suspected.

scholarly journals IgG4-related intracranial disease

2018 ◽  
Vol 32 (1) ◽  
pp. 29-35 ◽  
Author(s):  
Shahine Goulam-Houssein ◽  
Jeffrey L Grenville ◽  
Katerina Mastrocostas ◽  
David G Munoz ◽  
Amy Lin ◽  
...  
Keyword(s):  
Plasma Cells ◽  
Surgical Intervention ◽  
Case Series ◽  
Hypertrophic Pachymeningitis ◽  
Diagnostic Challenge ◽  
Perineural Spread ◽  
Related Disease ◽  
The Third ◽  
Igg4 Related Disease ◽  
Intracranial Involvement

IgG4-related disease (IgG4-RD) is a multi-organ chronic inflammatory process caused by infiltration of IgG4-positive plasma cells in one or more organs. Intracranial involvement has only recently become better recognized. Our case series adds to the growing literature on the varying presentations of intracranial IgG4 by describing the clinical and imaging findings of three patients who presented to our institution with intracranial involvement. Our first patient presented with a mass-forming IgG4 pachymeningitis mimicking a sphenoid wing meningioma, which is to our knowledge the largest mass-forming pachymeningitis published in the literature. Our second case depicts another presentation of extensive IgG4 pachymeningitis involving both cavernous sinuses and surrounding Meckel’s caves. The third case describes a patient with presumed lymphocytic hypophysitis, which was later determined to be IgG4-related hypophysitis with concomitant pachymeningitis and perineural spread along the optic nerves. The delayed diagnoses in our cases illustrates the diagnostic challenge that clinicians face in differentiating intracranial IgG4-RD from other infiltrative diseases such as sarcoidosis, granulomatous disease, tuberculosis and lymphoma. Earlier consideration of IgG4-related hypophysitis and hypertrophic pachymeningitis in the differential diagnosis can prevent significant morbidity including unnecessary surgical intervention and organ failure secondary to extensive fibrosis.

scholarly journals Upbeat vertical nystagmus after brain stem cavernoma resection: a rare case of nucleus intercalatus/nucleus of roller injury

2020 ◽  
Vol 267 (10) ◽  
pp. 2865-2870
Author(s):  
Torstein R. Meling ◽  
Aria Nouri ◽  
Adrien May ◽  
Nils Guinand ◽  
Maria Isabel Vargas ◽  
...  
Keyword(s):  
Rare Case ◽  
Vascular Malformations ◽  
Clinical Manifestations ◽  
Neurological Injury ◽  
Medial Longitudinal Fasciculus ◽  
Blurred Vision ◽  
Complete Excision ◽  
First Case ◽  
Vertical Nystagmus ◽  
Upbeat Nystagmus

Abstract Introduction CNS cavernomas are a type of raspberry-shaped vascular malformations that are typically asymptomatic, but can result in haemorrhage, neurological injury, and seizures. Here, we present a rare case of a brainstem cavernoma that was surgically resected whereafter an upbeat nystagmus presented postoperatively. Case report A 42-year old man presented with sudden-onset nausea, vomiting, vertigo, blurred vision, marked imbalance and difficulty swallowing. Neurological evaluation showed bilateral ataxia, generalized hyperreflexia with left-sided predominance, predominantly horizontal gaze evoked nystagmus on right and left gaze, slight left labial asymmetry, uvula deviation to the right, and tongue deviation to the left. MRI demonstrated a 13-mm cavernoma with haemorrhage and oedema in the medulla oblongata. Surgery was performed via a minimal-invasive, midline approach. Complete excision was confirmed on postoperative MRI. The patient recovered well and became almost neurologically intact. However, he complained of mainly vertical oscillopsia. The videonystagmography revealed a new-onset spontaneous upbeat nystagmus in all gaze directions, not suppressed by fixation. An injury of the rarely described intercalatus nucleus/nucleus of Roller is thought to be the cause. Conclusion Upbeat nystagmus can be related to several lesions of the brainstem, including the medial longitudinal fasciculus, the pons, and the dorsal medulla. To our knowledge, this is the first case of an iatrogenic lesion of the nucleus intercalatus/nucleus of Roller resulting in an upbeat vertical nystagmus. For neurologists, it is important to be aware of the function of this nucleus for assessment of clinical manifestations due to lesions within this region.

scholarly journals Etiologies and clinical characteristics of young patients with angle-closure glaucoma: a 15-year single-center retrospective study

2021 ◽  
Author(s):  
Feng Gao ◽  
Jiajian Wang ◽  
Junyi Chen ◽  
Xiaolei Wang ◽  
Yuhong Chen ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Anterior Segment ◽  
Young Patients ◽  
Case Series ◽  
Neovascular Glaucoma ◽  
Angle Closure Glaucoma ◽  
Angle Closure ◽  
Primary Angle Closure Glaucoma ◽  
Uncommon Presentation ◽  
Underlying Causes

Abstract Purpose To investigate the etiologies and the clinical characteristics of angle-closure glaucoma (ACG) patients younger than 40 years old in Chinese. Methods Inpatients with diagnosis of ACG and diagnosed age younger than or equal to 40 years old, who were admitted in Eye, Ear, Nose, and Throat Hospital Fudan University from 2002 to 2017, were included in this retrospective non-comparative case series. The underlying causes and clinical features for all the patients were analyzed by comprehensive review of medical charts. Results A total of 298 patients (463 eyes) met the criteria, including 153 females (51.3%) and 145 males (48.7%); the mean age was 25.6 ± 13.0 years. Primary angle-closure glaucoma (PACG), uveitis, and anterior segment dysgenesis (ASD) were the top three etiologies in our patients, which accounted for 32.6%, 20.3%, and 15.1% of the total patients respectively. PACG mainly occurs after 30 years of age and ASD is the top reason of ACG in patients younger than 20 years old. Other known etiologies include iridocorneal endothelial syndrome, neovascular glaucoma, nanophthalmos, retinitis pigmentosa, spherophakia, bestrophinopathy, persistent fetal vasculature, iridociliary cysts, congenital retinoschisis, Marfan’s syndrome, retinopathy of prematurity, familial exudative vitreoretinopathy, congenital retinal folds, Coat’s disease, and neurofibromatosis. Conclusions We described the uncommon presentation of ACG in Chinese young patients. Although unusual, most of the etiologies could be identified. Therefore, more careful and comprehensive examinations are needed for early detection and timely treatment for young ACG patients.

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