scholarly journals GP.03 Immune deficiencies/dysregulations underpinning childhood limbic encephalitis: a case series and literature review

Author(s):  
A Alawadhi ◽  
N Wilson ◽  
R Alizadehfar ◽  
G Sebire

Background: Limbic encephalitis (LE) is a rare autoimmune syndrome affecting limbic system structures and causing variety of manifestations including memory changes, temporal epilepsies, and psychiatric symptoms. It is a rare disease in children but with a well-recognizable combination of clinical, neuroimaging and/or histological signature. Beyond the association with anti-neuronal auto-antibodies, no clear immune system phenotype has been associated with limbic encephalitis. Our aim is to characterize the clinical and paraclinical features of non-paraneoplasic limbic encephalitis and to correlate them with potential underlying immune deficiencies. Methods: Retrospective case series of seven patients with limbic encephalitis recruited at the Montreal Children’s Hospital (MCH) with a focus on the immune- and neuro-phenotypes, including anti-neuronal antibodies, lymphocyte sub-typing, key markers of immunoglobulin and complement systems. Literature review showed 77 cases of non-paraneoplastic non-NMDA limbic encephalitis. Results: Symptoms included temporal epilepsy (n=5), psychiatric symptoms such as ADHD or autistic symptoms (n=2), and memory changes (n=3). One patient was positive for both voltage gated potassium channel antibodies (VGKC) and anti-thyroid peroxidase antibodies (TPO) and two were positive only for anti TPO antibodies. One patient showed low CD19, and immunoglobulins. Three patients showed chronic low CD56 cell count. Conclusions: The study is still ongoing, but at least 3 patients already display some traits of immune dysregulation.

2019 ◽  
pp. 13-31
Author(s):  
Kevin Wong

Background: Intracranial hypotension (IH) among patients with persistent cerebrospinal fluid (CSF) leakage remains a challenging problem. The majority of these cases resolve spontaneously with conservative measures. The customary treatment for IH is epidural blood patch (EBP). In some cases, CSF leaks can persist for months or even years despite multiple trials of EBP. To date, there are only a limited number of published studies documenting the percutaneous injection of fibrin sealant for treatment of IH refractory to conservative measures and EBP. Objective: Our objective was to perform a literature review and retrospective case series regarding patients who underwent percutaneous injection of fibrin sealant for treatment of refractory IH at our institution. Study Design: This case series used a singlecentered retrospective observational study design and literature review. Setting: Patients in this case series were treated at a community-based tertiary care medical center. Methods: Five consecutive patients with the diagnosis of IH refractory to conservative measures and EBP who underwent percutaneous patching with fibrin sealant were identified at our institution between January 1, 2000 and January 1, 2016. A retrospective chart review was performed and data including demographics, characteristics, interventions, clinical outcomes, and complications were collected. A critical review of the current literature regarding the percutaneous use of fibrin sealant for treatment of IH was conducted. Results: Four of the 5 patients (80%) experienced no further symptoms of IH and no adverse events were noted. One patient (20%) ultimately required surgical duroplasty. Review of the current literature showed a total of 2 prospective case series, 4 retrospective case series, and 11 case reports. Our present case series and literature review demonstrated that fibrin sealants were well-tolerated by most patients and associated with low incidences of complications and recurrence. Limitations: This study is limited by the small retrospective case series of 5 patients. Conclusions: Percutaneous injection of fibrin sealant may be considered in refractory cases of IH when repeated trials of EBP have persistently failed. It appears to be a highly effective, safe, and easy-touse alternative therapy for patients with refractory IH in an ambulatory setting. Our review of the literature revealed only studies with low quality of evidence, including case series and case reports. There is a substantial need for high-quality studies and clinical evidence to corroborate the efficacy and safety of this percutaneous technique. However, this ideal is very challenging because of the relative rarity and heterogeneous etiologies of cases. Keywords: Fibrin sealant, intracranial hypotension, CSF leak, epidural blood patch, orthostatic headache, refractory, quality of life, percutaneous


2019 ◽  
Vol 104 (8) ◽  
pp. 789-792 ◽  
Author(s):  
Jascha Kehr ◽  
Alex Binfield ◽  
Fraser Maxwell ◽  
Tim Hornung ◽  
Jonathan R Skinner

ObjectiveGuidelines state that verapamil is contraindicated in infants. This is based on reports of cardiovascular collapse and even death after rapid intravenous administration of verapamil in infants with supraventricular tachycardia (SVT). We wish to challenge this contraindication for the specific indication of verapamil sensitive ventricular tachycardia (VSVT) in infants.DesignRetrospective case series and critical literature review.SettingHospitals within New Zealand.PatientsWe present a series of three infants/young children with VSVT or ‘fascicular VT’.ResultsThree children aged between 8 days and 2 years presented with tachycardia 200–220 beats per minute with right bundle brunch block and superior axis. Adenosine failed to cardiovert and specialist review diagnosed VSVT. There were no features of cardiovascular shock. Verapamil was given as a slow infusion over 10–30 min (rather than as a push) and each successfully cardioverted without incident. Critical review of the literature reveals that cardiovascular collapses were associated with a rapid intravenous push in cardiovascularly compromised infants and/or infants given other long-acting antiarrhythmics prior to verapamil.ConclusionsVerapamil is specifically indicated for the treatment of fascicular VT, and for this indication should be used in infancy, as well as in older children, as first-line treatment or after failure of adenosine raises suspicion of the diagnosis. We outline how to distinguish this tachycardia from SVT and propose a strategy for the safe intravenous slow infusion of verapamil in children, noting that extreme caution is necessary with pre-existing ventricular dysfunction.


2020 ◽  
Vol 21 (7) ◽  
pp. 583-589 ◽  
Author(s):  
Yong Wang ◽  
Wenke Li ◽  
Nianliang Jing ◽  
Xiangji Meng ◽  
Shizhen Zhou ◽  
...  

2021 ◽  
Author(s):  
Yue-Ming Liu ◽  
Li Dong ◽  
Xiao-Lin Xu ◽  
He-Yan Li ◽  
Qiong Yang ◽  
...  

Abstract Background: Intraocular schwannoma is a rare intraocular tumor, which is often misdiagnosed. We aimed to analyze the demographics and clinical characteristics of patients with intraocular schwannoma.Methods: Retrospective case series were collected from May 2005 to July 2021 in Beijing Tongren Hospital. Then a literature review was also performed.Results: A total of 28 patients were diagnosed with intraocular schwannoma histopathologically. The median age (range) of the included patients was 39 (12-64) years old, among whom half subjects were female. The most common symptom was visual loss (75.0%), followed by visual field loss (10.7%). Intraocular schwannoma presented as nonpigmented mass, which occurred mainly in ciliary body (42.9%), followed by choroid (32.1%) and ciliochoroid (25.0%).16 patients (57.1%) were clinically misdiagnosed as uveal melanoma. Tumor excision was performed for all patients and increased light transmission was detected in half cases. In the consecutive follow-up (median: 6.0 years, range: 0.5-16.0 years), no recurrence or metastasis case was detected.Conclusions: Intraocular schwannoma is a rare benign intraocular tumor. It usually presents as nonpigmented mass, which is easily misdiagnosed as nonpigmented uveal melanoma.


2018 ◽  
Vol 57 (5) ◽  
pp. 692-695 ◽  
Author(s):  
Sinan Ates ◽  
Mahmut Alp Karahan ◽  
Nuray Altay ◽  
Kazim Akelci ◽  
Nagehan Ikiz ◽  
...  

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