CASPR-2 related morvan’s syndrome: Autonomic, polysomnographic & neuropsychological observations

2020 ◽  
pp. 10.1212/CPJ.0000000000000978
Author(s):  
Panda Sudha Swayang ◽  
Atchayaram Nalini ◽  
Veeramani Preethish-Kumar ◽  
Kaviraja Udupa ◽  
Ravi Yadav ◽  
...  
Keyword(s):  
Early Recognition ◽  
Age At Onset ◽  
Beta Activity ◽  
Postural Orthostatic Tachycardia Syndrome ◽  
Behavioral Disturbances ◽  
Periodic Leg Movements ◽  
Double Incontinence ◽  
Neuropsychological Profile ◽  
Morvan’S Syndrome

Background& Objectives:Morvan’s syndrome is characterized by central, autonomic, and peripheral hyperexcitability due to CASPR-2-antibody. Our objective was to study the clinical spectrum, electrophysiological, autonomic, polysomnographic and neuropsychological profile in patients of CASPR-2 related Morvan’s syndrome.Materials & Methods:Serum and CSF samples that were CASPR2-antibody positive from 2016-2019 were assessed. Among them, patients of Morvan’s syndrome diagnosed based on clinical and electrophysiological basis were included.Results:14(M: F-10:4) patients of Morvan’s syndrome were included with age at onset of 37.1±17.5 years. The clinical features were muscle twitching (12), insomnia (12), pain (11), paraesthesias (9), hyperhidrosis (7), hypersalivation (6), double incontinence (3), spastic speech (2), dysphagia (2), behavioral disturbances (2), seizures (1) cold intolerance (1). Neurological examination revealed myokymia (12), hyperactive tendon reflexes (10), tremor (6). Electromyogram revealed neuromyotonia (12) and increased spontaneous activity (7). Autonomic function tests conducted in eight patients revealed definite autonomic dysfunction (4), orthostatic hypotension (2), early dysfunction (1) and postural orthostatic tachycardia syndrome (1). Polysomnography findings done in six patients revealed insomnia (3), absence of deep sleep (1), high frequency beta activity (1), REM (rapid eye movement) behaviour disorder(1), periodic leg movements(1). Neuropsychological evaluation showed subtle involvement of the left frontal and temporal lobe. Malignancy workup was negative. All patients were treated with steroids. There was complete neurological resolution in follow-up with persistent neuropathic pain in five patients.Conclusions:This study has contributed to the growing knowledge on CASPR2-related Morvan’s syndrome. It is important for an increased awareness and early recognition as it’s potentially treatable by immunotherapy.

scholarly journals Clinical patterns and the evolution of relapsing polychondritis based on organ involvement: a Chinese retrospective cohort study

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Lei Zhang ◽  
Shuang Yun ◽  
Tiange Wu ◽  
Yujie He ◽  
Jinyan Guo ◽  
...  
Keyword(s):  
Early Recognition ◽  
Age At Onset ◽  
Relapsing Polychondritis ◽  
Organ Involvement ◽  
Strong Negative Correlation ◽  
Negative Pattern ◽  
Inflammatory Status ◽  
Clinical Patterns ◽  
Systemic Form

Abstract Background Relapsing polychondritis (RPC) is a rare autoimmune disease and its early diagnosis remains challenging. Defining the clinical patterns and disease course may help early recognition of RPC. Results Sixty-six males and 60 females were included in this study. The average age at onset were 47.1 ± 13.8 years and the median follow-up period was 18 months. Correlation analysis revealed a strong negative correlation between airway involvement and auricular chondritis (r = − 0.75, P < 0.001). Four distinct clinical patterns were identified: Ear pattern (50.8%), Airway pattern (38.9%), Overlap pattern (4.8%) and Airway-Ear negative pattern (5.6%), and patients with Ear pattern and Airway pattern were further divided into limited and systemic form of RPC (27.8% with limited form of Ear pattern and 24.6% with limited form of Airway pattern initially). During follow-up, a minority of patients with Ear pattern and Airway pattern progressed into Overlap pattern, and some Airway-Ear negative pattern patients progressed into Ear pattern. While a large majority of limited RPC patients remained limited form during follow-up, a minority of limited RPC patients progressed into systemic form. Patients with Ear pattern had the highest survival rate and relatively lower inflammatory status. Conclusions RPC patients can be categorized as 4 different clinical patterns and 2 distinct presenting forms (limited and systemic) based on organ involvement. The clinical patterns and presenting forms may evolve during follow-up. Our findings may facilitate early recognition of this rare disease.

scholarly journals Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients

2021 ◽  
Vol 12 ◽  
Author(s):  
Rita Barone ◽  
Agata Fiumara ◽  
Mariangela Gulisano ◽  
Lara Cirnigliaro ◽  
Maria Donatella Cocuzza ◽  
...  
Keyword(s):  
Early Recognition ◽  
Age At Onset ◽  
Lysosomal Storage ◽  
Epileptiform Discharges ◽  
Appropriate Care ◽  
Behavioral Abnormalities ◽  
Eeg Abnormalities ◽  
Eeg Changes ◽  
Mps Iii

Mucopolysaccharidosis III (Sanfilippo syndromes) types A–D are rare lysosomal storage disorders characterized by heparan sulfate accumulation and neurodegeneration. Patients with MPS III present with developmental stagnation and/or regression, sleep disturbance, and behavioral abnormalities usually in the first years of life. Epilepsy may occur in a proportion of patients during the disease course. However, the progression of epilepsy and EEG changes in MPS III have not been systematically investigated. We report electroclinical features in a cohort of patients with MPS III over a follow-up period ranging from 6.5 to 22 years. Participants include 15 patients (11 females; aged 7–31 years) with MPS III A (n = 7, 47%), MPS III B (n = 5, 34%), MPS III C (n = 2, 13%), and MPS III D (n = 1, 6%). At the time of this study, 8 out of 15 patients (53%) had epilepsy. Epilepsy occurred in patients with advanced disease even in the first decade of life (mean age at onset: 12.1 ± 6.7 years). However, seizure onset may also be associated with abrupt worsening of the neurobehavioral phenotype. The main epilepsy types observed were generalized (four out of eight, 50%), followed by focal (three out of eight, 37%) and combined (two out of eight, 25%) epilepsy and status epilepticus (one out of eight, 12.5%). Seizures were generally controlled by one antiepileptic drug (AED) and most patients (seven out of eight, 87%) were still on therapy after a median follow-up period of 5 years (range: 1–9 years). A total of 66 EEGs were analyzed with a median EEG follow-up duration of 7 years (range: 6 months−14 years). Slowing of the background activity occurred in 7 (46%) patients aged 4–19 years. Epileptiform EEG abnormalities were observed in 10 patients at a mean age of 9.6 ± 2.9 years. EEG epileptiform discharges were not unavoidably linked to epilepsy. Early recognition and careful monitoring of electroclinical features in MPS III is necessary for appropriate care and for the detection of disease progression.

scholarly journals Clinical patterns and the evolution of relapsing polychondritis based on organ involvement: a Chinese retrospective cohort study

2020 ◽  
Author(s):  
Lei Zhang ◽  
Shuang Yun ◽  
Tiange Wu ◽  
Yujie He ◽  
Jinyan Guo ◽  
...  
Keyword(s):  
Early Recognition ◽  
Age At Onset ◽  
Relapsing Polychondritis ◽  
Organ Involvement ◽  
Strong Negative Correlation ◽  
Negative Pattern ◽  
Inflammatory Status ◽  
Clinical Patterns ◽  
Systemic Form

Abstract Background Relapsing polychondritis(RPC) is a rare autoimmune disease and its early diagnosis pose a challenge to medical committee. Defining the clinical patterns and disease course may help early recognition of RPC. Results Sixty-six males and 60 females were included in this study. Their average age at onset were 47.1±13.8 years with a median follow-up of 18 months. Correlation analysis revealed a strong negative correlation between airway involvement and auricular chondritis (r=-0.75，P<0.001). Four distinct clinical patterns were identified: Ear pattern (50.8%), Airway pattern (38.9%), Overlap pattern (4.8%) and Airway-Ear negative pattern (5.6%), and patients with Ear pattern and Airway pattern were further divided into limited and systemic form of RPC (27.8%with limited form of Ear pattern and 24.6% with limited form of Airway pattern initially). During follow-up, a minority of patients with Ear pattern and Airway pattern progressed into Overlap pattern, and some Airway-Ear negative pattern patients progressed into Ear pattern. While a large majority of limited RPC patients remained limited form during follow-up, some patients did become systemic form. Patients with Ear pattern had the highest survival rate and lower inflammatory status. Conclusions RPC patients can be categorized as 4 different clinical patterns and 2 distinct presenting forms (limited and systemic) based on organ involvement, and clinical patterns and presenting forms can evolve during follow-up. Our findings may facilitate early recognition of this rare disease.

scholarly journals Early recognition of PIMS-TS: a single centre retrospective review

2021 ◽  
Vol 5 (1) ◽  
pp. e001011
Author(s):  
Roshni Mistry ◽  
Nicola Scanlon ◽  
James Hibberd ◽  
Fionnghuala Fuller
Keyword(s):  
Early Recognition ◽  
Febrile Illness ◽  
Final Diagnosis ◽  
University Hospital ◽  
Single Centre ◽  
Retrospective Case ◽  
Reactive Protein ◽  
Review Reports ◽  
Specific Symptoms

IntroductionResearch into paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS) has focused on tertiary level management. This review reports on symptoms and investigations at presentation.MethodsSingle centre retrospective case note analysis of patients fulfilling PIMS-TS diagnostic criteria from March to May 2020 in a London district level university hospital.ResultsSix patients presented in the week prior to their final diagnosis with fever and non-specific symptoms. Raised C-reactive protein (CRP), lymphopenia and hyponatraemia were noted. Kawasaki-like symptoms were under-represented in all patients.InterpretationThe results suggest that a proportion of children with early PIMS-TS present with a non-specific febrile illness and abnormal blood results. Further research is needed to determine the most appropriate identification and follow-up of these children.

scholarly journals AB0786 HUGHES–STOVIN SYNDROME: A PECULIAR AUTOIMMUNE ORIGIN OF PULMONARY ANEURYSMS

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1418.2-1419
Author(s):  
P. Triggianese ◽  
A. D’antonio ◽  
B. Kroegler ◽  
A. Ascoli Marchetti ◽  
L. Belvivere ◽  
...  
Keyword(s):  
Pulmonary Embolism ◽  
Ct Angiography ◽  
Early Recognition ◽  
Endovascular Embolization ◽  
Ocular Involvement ◽  
Arterial Aneurysm ◽  
Filter Placement ◽  
Invasive Approach ◽  
Oral Ulcers

Background:Hughes-Stovin Syndrome (HSS) is a rare potentially fatal vasculitis supposedly belonging to the spectrum of Behçet disease without ocular involvement. HSS tends to play by a temporal pattern, starting with thrombosis and followed by formation of pulmonary aneurysms. Since its mortality can reach 25% of cases, the early recognition and the appropriate therapy represent the major challenges.Objectives:In this report, we aimed at describing a rare case of HSS successfully treated in accordance with a prompt combined management with endovascular approach and immunosuppressive treatments.Methods:We described a Caucasian 33-year-old man presented to the Emergency Room of our Hospital with hemoptysis associated with dyspnea and chest pain, without fever and hypotension, with a 2-year history of painful genital and oral ulcers. Blood test revealed anemia, elevated white cell count with increased C-reactive protein (77 mg/L) and D-dimer (2740 ng/mL). Doppler ultrasonography of legs showed thrombosis of the left femoral vein, while CT-angiography reported multiple aneurysms of the pulmonary arteries. An early and extensive work-up for infections and autoimmunity did not document relevant abnormalities. An appropriate genetic assessment revealed the HLA-B51 positivity. The patient immediately underwent endovascular embolization with coils and plugs of the largest pulmonary aneurysm, and inferior vena cava filter placement. Then, he started methylprednisolone (1 mg/kg/day) IV for three days in association with LMWH (6000 IU/day). Prednisone (1 mg/kg/day) in combination with cyclophosphamide (100 mg daily) were started orally, with tapering of steroids within a month. At the tight follow up (1 month and 3 months later), no genital and oral ulcers nor vascular thrombosis occurred, and acute phase reactants were in normal range. The 3-month-CT angiography showed a complete resolution of the aneurysms and no new changes.Results:The peculiar diagnosis of HLAB51 positive HSS with multiple pulmonary aneurysms was made. The appropriate imaging followed by a prompt endovascular embolization of aneurysms with LMWH treatment were successfully performed. Interestingly, the oral combination therapy with corticosteroid and cyclophosphamide showed a rapid efficacy with a relevant safety profile. At the tight follow up, the young man improved significantly with clinical signs and pulmonary changes (Figure 1 next page).Conclusion:This case is of interest because of the early recognition of such a rare disease that allowed an adequate combined radiological, vascular, and rheumatologic approach. In our case, LMWH resulted useful in preventing the pulmonary embolism, despite the use of anticoagulants is still debated in HSS. Moreover, the endovascular embolization let a less invasive approach to surgery without the need for multiple surgical procedures. For the first time, we documented that oral cyclophosphamide showed an early efficacy as a first line therapy of a HLA-B51 HSS.References:[1]Keskin M, Polat G, Ayranci A, et al. Insidious Hughes Stovin Syndrome: Journey From Pulmonary Embolism to Pulmonary Arterial Aneurysm. Turk Thorac J. 2020;21:350-353.[2]Valdés-Corona LF, Kimura-Hayama E, Méndez-Cano VH, et al. Hughes-Stovin syndrome: an uncommon cause of pulmonary aneurysms. Rheumatology (Oxford). 2020;59:2183-2184.Figure 1.Disclosure of Interests:None declared

scholarly journals Disease course of Neurofibromatosis Type 2; a 30-year follow-up study of 353 patients seen at a single institution

2020 ◽  
Author(s):  
Claire Forde ◽  
Andrew T King ◽  
Scott A Rutherford ◽  
Charlotte Hammerbeck-Ward ◽  
Simon K Lloyd ◽  
...  
Keyword(s):  
De Novo ◽  
Radiation Treatment ◽  
Univariate Analysis ◽  
Age At Onset ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Disease Course ◽  
Number Of Patients

Abstract Background Limited data exists on the disease course of Neurofibromatosis Type 2 (NF2) to guide clinical trial design. Methods A prospective database of patients meeting NF2 diagnostic criteria, reviewed between 1990–2020, was evaluated. Follow-up to first vestibular schwannoma (VS) intervention and death was assessed by univariate analysis and stratified by age at onset, era referred and inheritance type. Interventions for NF2-related tumours were assessed. Cox regression was performed to determine the relationship between individual factors from time of diagnosis to NF2-related death. Results Three-hundred-and-fifty-three patients were evaluated. During 4643.1 follow-up years from diagnosis to censoring 60 patients (17.0%) died. The annual mean number of patients undergoing VS surgery or radiotherapy declined, from 4.66 and 1.65 respectively per 100 NF2 patients in 1990-1999 to 2.11 and 1.01 in 2010-2020, as the number receiving bevacizumab increased (2.51 per 100 NF2 patients in 2010-2020). Five patients stopped bevacizumab to remove growing meningioma or spinal schwannoma. 153/353 (43.3%) had at least one neurosurgical intervention/radiation treatment within 5 years of diagnosis. Patients asymptomatic at diagnosis had longer time to intervention and better survival compared to those presenting with symptoms. Those symptomatically presenting &lt;16 and &gt;40 years had poorer overall survival than those presenting at 26-39 years (P=0.03 and P=0.02 respectively) but those presenting between 16-39 had shorter time to VS intervention. Individuals with de novo constitutional variants had worse survival than those with de novo mosaic or inherited disease (P=0.004). Conclusion Understanding disease course improves prognostication, allowing for better informed decisions about care.

scholarly journals Aspartate aminotransferase to alanine aminotransferase ratio is associated with frailty and mortality in older patients with heart failure

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Daichi Maeda ◽  
Nobuyuki Kagiyama ◽  
Kentaro Jujo ◽  
Kazuya Saito ◽  
Kentaro Kamiya ◽  
...  
Keyword(s):  
Heart Failure ◽  
Older Patients ◽  
Early Recognition ◽  
Walk Distance ◽  
Failure Data ◽  
Patients With Heart Failure ◽  
All Cause Mortality ◽  
One Year ◽  
Independent Marker

AbstractFrailty is a common comorbidity associated with adverse events in patients with heart failure, and early recognition is key to improving its management. We hypothesized that the AST to ALT ratio (AAR) could be a marker of frailty in patients with heart failure. Data from the FRAGILE-HF study were analyzed. A total of 1327 patients aged ≥ 65 years hospitalized with heart failure were categorized into three groups based on their AAR at discharge: low AAR (AAR < 1.16, n = 434); middle AAR (1.16 ≤ AAR < 1.70, n = 487); high AAR (AAR ≥ 1.70, n = 406). The primary endpoint was one-year mortality. The association between AAR and physical function was also assessed. High AAR was associated with lower short physical performance battery and shorter 6-min walk distance, and these associations were independent of age and sex. Logistic regression analysis revealed that high AAR was an independent marker of physical frailty after adjustment for age, sex and body mass index. During follow-up, all-cause death occurred in 161 patients. After adjusting for confounding factors, high AAR was associated with all-cause death (low AAR vs. high AAR, hazard ratio: 1.57, 95% confidence interval, 1.02–2.42; P = 0.040). In conclusion, AAR is a marker of frailty and prognostic for all-cause mortality in older patients with heart failure.

Laryngeal cancer

2021 ◽  
pp. 175573802110105
Author(s):  
Kelvin Miu
Keyword(s):  
Head And Neck Cancer ◽  
Early Diagnosis ◽  
Head And Neck ◽  
Patient Outcomes ◽  
Laryngeal Cancer ◽  
Neck Cancer ◽  
Early Recognition ◽  
Signs And Symptoms ◽  
Diagnosis And Treatment

Laryngeal cancer is a common head and neck cancer and typically presents with voice hoarseness in patients older than 60 years. Early recognition of signs and symptoms of laryngeal cancer can lead to early diagnosis and treatment, therefore improving patient outcomes. This article aims to provide an overview of the anatomy of the larynx, presentation and management of laryngeal cancer, and common follow-up problems.

The outcome of seven patients with hereditary tyrosinemia type 1

2016 ◽  
Vol 29 (10) ◽  
Author(s):  
Songul Gokay ◽  
Pembe Soylu Ustkoyuncu ◽  
Fatih Kardas ◽  
Mustafa Kendirci
Keyword(s):  
Clinical Symptoms ◽  
Age At Onset ◽  
Nodule Formation ◽  
First Year ◽  
Tyrosine Metabolism ◽  
Tyrosinemia Type 1 ◽  
Hereditary Tyrosinemia ◽  
Biochemical Imaging

AbstractBackground:Hereditary tyrosinemia type 1 (HT1) is a rare, inborn error of tyrosine metabolism. It is a fatal disorder without treatment. Early treatment may prevent acute liver failure, renal dysfunction, liver cirrhosis, hepatocellular carcinoma (HCC) and improves survival. The aim of the present study is to describe the clinical, biochemical, imaging and follow-up of seven patients with HT1 and to define the consequences of the late and interrupted treatment.Methods:A retrospective study was carried out with seven HT1 patients.Results:The median age at onset of clinical symptoms was 11.2 months (range, 3–28 months) and the median age at diagnosis was 22 months (range, 6–58 months). Liver enzymes and coagulation parameters were back to normal in all symptomatic patients in about 2 weeks. Alfa-fetoprotein (AFP) levels were normalized within the first year of therapy. Hypoechoic nodule formation was detected in two of the seven patients despite drug treatment without an increase of AFP and any dysplastic changes in the biopsies. One patient died due to metastatic HCC because of the late diagnosis and the poor compliance of the follow-up.Conclusions:This study showed once again that adherence to the treatment and a follow-up schedule of the patients are very important. Also it should not be forgotten that nodule formation can occur despite nitisinone treatment without an increase of AFP. Despite nitisinone treatment, HT1 patients still carry the risk of HCC. HCC must be detected before metastasis to other organs otherwise, patients may lose the chance for liver transplantation.

2017 European guidelines for the management of genital herpes

2017 ◽  
Vol 28 (14) ◽  
pp. 1366-1379 ◽  
Author(s):  
Rajul Patel ◽  
Oliver J Kennedy ◽  
Emily Clarke ◽  
Anna Geretti ◽  
Arvid Nilsen ◽  
...  
Keyword(s):  
Genital Herpes ◽  
Early Recognition ◽  
Recurrent Genital Herpes ◽  
Sexually Transmitted ◽  
European Guidelines ◽  
Duration Of Illness ◽  
Clinical Scenarios ◽  
Immunodeficiency Virus ◽  
Initiation Of Therapy

Genital herpes is one of the commonest sexually transmitted infections worldwide. Using the best available evidence, this guideline recommends strategies for diagnosis, management, and follow-up of the condition as well as for minimising transmission. Early recognition and initiation of therapy is key and may reduce the duration of illness or avoid hospitalisation with complications, including urinary retention, meningism, or severe systemic illness. The guideline covers a range of common clinical scenarios, such as recurrent genital herpes, infection during pregnancy, and co-infection with human immunodeficiency virus.

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