Case Report of SLE Patients with Cryptococcosis in Nongkhai Hospital

2021 ◽  
Vol 104 (12) ◽  
pp. 1992-1999
Keyword(s):  
Cryptococcal Meningitis ◽  
Age Of Onset ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
Case Series ◽  
Screening Tools ◽  
Cns Infection ◽  
High Dose ◽  
Cryptococcal Infection ◽  
Icd 10

Background: Cryptococcal infection, especially cryptococcal meningitis, is the most common cause of central nervous system (CNS) infection with a high mortality rate in patients with systemic lupus erythematosus (SLE). The clinical features of cryptococcal meningitis may be non-specific, which may lead to miss or delay diagnosis and treatment. Objective: To collect the case series of SLE patients with cryptococcosis treated in Nongkhai Hospital between 2013 and 2021 and compared it with other studies. Materials and Methods: The medical records of SLE patients (ICD-10 M320-M329) with cryptococcal infection (ICD-10 B450-B459) treated in Nongkhai Hospital between 2013 and 2021 were reviewed and collected onto a medical record form. The following information were obtained, gender, occupation, age at SLE diagnosis, age of onset, duration of disease, comorbid or risks, previous infection, SLE disease activity, glucocorticoids, and immunosuppressors administered before or at infection diagnosis, cryptococcosis clinical manifestations, laboratory data, Cerebrospinal fluid (CSF) findings, antifungal agents used, and outcomes. Results: Six hundred thirty-six patients with SLE were identified and six patients developed cryptococcosis. Five patients had cryptococcal meningitis and one patient had cryptococcocemia. Fever and headache were the symptoms of all patients. CSF cryptococcal antigen was positive in five patients. Antifungal therapy was initiated as soon as the diagnosis was confirmed in all patients. Five patients (83.3%) recovered completely, and one patient was against the advice. Conclusion: The present study suggested that SLE patients presenting with fever and headache along with a history of moderate to high dose steroids and immunosuppressants administration should always be suspected of cryptococcal infection and cryptococcal meningitis. Meanwhile, CSF cryptococcal antigens are the effective screening tools to establish an early diagnosis. Accordingly, early appropriate treatment is crucial for a favorable outcome. Keywords: Cryptococcal infection; Cryptococcosis; Cryptococcal meningitis; SLE; Lupus

scholarly journals Which Is the Best Mobilizing Regimen in POEMS Syndrome? a Retrospective Italian Study of Two Haematological Centres

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 5692-5692
Author(s):  
Francesco Autore ◽  
Nicola Piccirillo ◽  
Andrea Nozza ◽  
Idanna Innocenti ◽  
Rossana Putzulu ◽  
...  
Keyword(s):  
Body Weight ◽  
Cell Count ◽  
Conflicts Of Interest ◽  
Conditioning Regimen ◽  
Laboratory Data ◽  
Case Series ◽  
Poems Syndrome ◽  
High Dose ◽  
Data Set ◽  
Hematopoietic Stem

Abstract Introduction. POEMS syndrome is a rare paraneoplastic condition associated to an underlying plasmacellular dyscrasia. The use of alkylating agents and autologous peripheral blood stem cell transplantation (aPBSCT) seem to be the best strategy. At present aPBSCT should be considered the first line therapy in young patients with POEMS, eligible for high-dose Melphalan (HD-Mel), in absence of organ dysfunction. The best protocol to collect PBSC in patients affected by POEMS remains to be defined, because of the disease rarity and the heterogeneity of published case series. We therefore decided to combine the case series of our two institutions to describe and compare results and outcomes in order to contribute to the definition of the best CD34+ cell mobilization strategy. Patients and methods. We collected clinical and laboratory data of patients affected by POEMS syndrome undergoing hematopoietic stem cells (HSC) mobilization for aPBSCT from 2003 to 2018. Data were organized in order to perform a statistical analysis using "GraphPad Prism" GraphPad Software Inc., (5755 Oberlin Drive, #110, San Diego, CA 92121, USA). The COBE Spectra continuous flow cell separator (Terumo BCT, Shinagawa, Tokyo) was used for leukapheresis. Results. Our data set consisted of 25 patients, of whom 11 were mobilized using cyclophosphamide (CY) 4 g/m2 followed by granulocyte colony-stimulating factor (G-CSF) 5 μg/kg and 14 patients were mobilized using G-CSF 10 μg/kg for 5 days. All patients submitted to mobilization underwent collection procedure. Three patients, because of low CD34+ cells after the administration of G-CSF alone, were submitted to plerixafor infusion achieving a median pre-apheresis CD34+cell count of 28 cells collecting a median of 4.5 CD34+cell/kg body weight. All patient underwent aPBSCT after HD-Mel conditioning regimen receiving an infusion of 4.7 CD34+cell/kg body weight (range 1.5-8.4) and achieved a successful engraftment. At present all the patients are alive and in remission. In order to compare mobilization schedule we performed a comparison analysis between 11 patients receiving chemotherapy as mobilizing regimen versus 14 patients receiving only G-CSF. Data analysis according to mobilization schedule was reported in Table 1. Analysing mobilization efficacy, chemo-mobilized patients achieved a higher pre-apheresis CD34+ cell count (57 vs 33 cells/µl, p<0.05). This result allowed a significantly shorter procedure (2.3 TBV vs 3 TBC, p<0001). Patients receiving only G-CSF showed a WBC count significantly higher than chemo-mobilized patients (40.000 vs 8.140, p<0.05). The incidence of poor mobilization was low (3 out of 25 patients, 12%) and not statistically different between the two mobilization schedules. Discussion. The collection of these data allowed us to achieve one of the major series published in literature and to perform a comparison between two different approaches. The data suggest that both schemes (CY plus G-CSF vs. G-CSF alone) were able to harvest a sufficient CD34+ cell dose. Disclosures No relevant conflicts of interest to declare.

Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13

2020 ◽  
Vol 33 (1) ◽  
pp. 157-163 ◽  
Author(s):  
Melis Demir Köse ◽  
Mehtap Kagnici ◽  
Taha Reşit Özdemir ◽  
Cahit Barış Erdur ◽  
Gülin Erdemir ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Genetic Disorder ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
Case Series ◽  
Clinical Findings ◽  
First Case ◽  
Age Related ◽  
Citrin Deficiency ◽  
Turkish Patients

AbstractBackgroundCitrin deficiency (CD) is an autosomal recessive genetic disorder caused by a defect in the mitochondrial aspartate/glutamate antiporter, citrin. Three clinical manifestations have been described until today.Case presentationWe reported 5 CD patients from two families. Four patients were male and one patient was female. Two of them have NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency); three of them have CTLN2 (adult-onset type II citrullinemia). Both NICCD patients showed typical clinical and biochemical changes with a diagnosis confirmed by mutations in the SLC25A13 gene. We detected a previously unreported homozygous novel mutation c.478delC (L160Wfs*36 ) on the SLC25A13 gene. All of the CTLN2 patients were siblings. Proband was a 15-year-old mentally retarded and autistic male who had admitted to our emergency with disorientation. Laboratory data showed hyperammonemia and citrullinemia.ConclusionsTwo different profiles of age-related CD have been depicted with this article. It has been aimed to underline that the CD can be observed in different forms not only in neonatals or little infants but also in adolescents. This article is the first case series that covers both NICCD and CTLN2 cases together and that has been published in Turkey. Considering the fact that especially the majority of CTLN2 cases have been identified in Asian countries, our article has vital importance in terms of defining phenotypic features of the disease.

scholarly journals Myelin Oligodendrocyte Glycoprotein Antibody Associated Cerebral Cortical Encephalitis: Case Reports and Review of Literature

2022 ◽  
Vol 15 ◽  
Author(s):  
Hang Shu ◽  
Manqiu Ding ◽  
Pei Shang ◽  
Jia Song ◽  
Yue Lang ◽  
...  
Keyword(s):  
Systematic Review ◽  
Demyelinating Disease ◽  
Age Of Onset ◽  
Clinical Phenotype ◽  
Brain Mri ◽  
Clinical Manifestations ◽  
Myelin Oligodendrocyte Glycoprotein ◽  
Lessons Learned ◽  
Population Characteristics ◽  
High Dose

Myelin oligodendrocyte glycoprotein antibody-associated disease is an immune-mediated demyelinating disease of the central nervous system that is present in both adults and children. The most common clinical manifestations are optic neuritis, myelitis, acute disseminated encephalomyelitis, and brainstem syndrome. Cerebral cortical encephalitis (CCE) is a rare clinical phenotype of myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD), which usually begins with seizures, headaches, and fever, and may be misdiagnosed as viral encephalitis in the early stages. Herein, we report two typical MOG antibody (MOG-Ab)-positive patients presenting with CCE, both of whom presented with headache, fever, seizures, and who recovered completely after immunotherapy. In addition, we performed a systematic review of the present literature from the perspectives of population characteristics, clinical symptoms, MRI abnormalities, treatments, and prognosis. Among the patients reported in 25 articles, 33 met our inclusion criteria, with the age of onset ranging from 4 to 52 years. Most of the patients had seizures, headache, fever, and unilateral cortical lesions on brain MRI. For acute CCE, 30 patients were treated with high-dose intravenous methylprednisolone, and the symptoms of most patients were completely relieved after immunotherapy. This study reported our experience and lessons learned in the diagnosis and treatment of MOG-Ab-positive CCE and provides a systematic review of the literature to analyse this rare clinical phenotype.

scholarly journals MON-313 Thyrotropin-Secreting Pituitary Tumors: Clinical Features, Diagnostic Criteria and Treatment Outcomes in 28 Patients

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Diana A Dimitrova ◽  
Evgeniy T Abdullin ◽  
Elena G Przhiyalkovskaya ◽  
Andrey Yu. Grigoriev ◽  
Vilen N Azizyan ◽  
...  
Keyword(s):  
Pituitary Adenoma ◽  
Thyroid Hormones ◽  
Medical Treatment ◽  
Combined Treatment ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
Case Series ◽  
Pituitary Tumors ◽  
Mean Value ◽  
Somatostatin Analogue

Abstract Introduction Thyrotropin-secreting pituitary adenoma (TSH-oma) is a rare cause of thyrotoxicosis and represents 0.5-3% of all pituitary adenomas. Given the rarity of the disease and the lack of extensive clinical experience in world practice, the analysis of each case of TSH-secreting pituitary tumors is extremely relevant. Materials and methods: We enrolled consecutive patients with TSH secreting pituitary adenoma. TSH (0,25-3,5 mIU/L), FT4 (9-20 pmol/l) FT3 (2,5-5,5 pmol/l) were measured by Architect i2000SR (Abbott Laboratories, Abbott Park, Illinois, U.S.A). An octreotide test consisted of injecting short-acting somatostatin analogue (SSA) at a dose of 100 μg 3 times a day subcutaneously during 3 days or long-acting SSA 20 mg in 28 days minimum for two months and measuring thyroid profile blood tests before and at the end of the test. MRI was performed on GE Optima MR450w 1.5T. Results: We present 28 case series with TSH-omas followed in our center from 2010 to 2019, the median age - 46 (from 10 to 71 years) with a predominance of a female (21 cases) over a male (7 cases). Clinical manifestations included cardiac arrhythmias (82.1%), neurological changes (60.7%), visual impairment (39.3%), osteoporosis (28.6%), hypopituitarism (7.1%). At first admission, 17 patients had increased TSH, FT3 and FT4; in 7 patients - FT3 and FT4 only, and in 4 - an increase was in one of the hormones; mean value of TSH was 5,04 mIU/L, FT4 - 24,46 pmol/l, FT3 - 8,9 pmol/l. SSBG, CTx, osteocalcin were elevated in 60.9%, 57.9% and 31.6% of cases, respectively. In 88.5% of cases octreotide test led to thyroid hormones normalization. On MRI macroadenomas was registered in 67.9%. In 12 patients, diagnosis was confirmed by immunohistochemical examination. In 12 patients, the diagnosis verification was based on remission after surgical and medical treatment. In the remaining four cases, the diagnosis was made on clinical and laboratory data, however, confirmation was inconceivable due to inefficacy of medical treatment. Remission was achieved in 23 patients: 17 of 21 after neurosurgery (81%), 3 of 7 after primary administration of SSA, and 3 after administration of SSA after surgery (100% remission in cases of combined treatment and 42.9% of monotherapy); 3 out of 5 patients who did not achieve remission were lost for observation. Two patients died: in one case due to the brain herniation and cachexia in active thyrotoxicosis. In second case, the patient developed a mental disorder (catatonia) after the second transphenoidal adenomectomy, which led to death. Conclusion The diagnosis of TSH-oma should be based on all thyroid hormones assessment, since biochemical thyrotoxicosis can manifest itself in various ways. The most effective treatment is transphenoidal adenomectomy. If a neurosurgery is not effective or contraindicative, preoperative preparations SSA can be used.

scholarly journals AB0725 MACROPHAGE ACTIVATION SYNDROME IN CHILDREN WITH RHEUMATIC DISEASES: ANALYSIS OF CASE SERIES

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1393.3-1394
Author(s):  
M. Kaleda ◽  
I. Nikishina ◽  
V. Matkava ◽  
A. Shapovalenko ◽  
E. Fedorov ◽  
...  
Keyword(s):  
Macrophage Activation Syndrome ◽  
Macrophage Activation ◽  
Early Stage ◽  
Clinical Manifestations ◽  
Case Series ◽  
Overlap Syndrome ◽  
High Dose ◽  
Female Ratio ◽  
Course Of Disease ◽  
Activation Syndrome

Background:Macrophage activation syndrome (MAS) is a rare, but severe life-threatening complication of chronic rheumatic disease (RD) in children, which associated with high risks of the multiple organ failure and mortality.Objectives:Tо analyze demographic, clinical and laboratory parameters, timing of MAS and disease outcome in patients (pts) with MAS and RD.Methods:The study included all pts of single center with RD, who developed the MAS. The diagnosis was recognized according to Classification criteria for MAS in sJIA [1].Results:We observed 52 pts with RD and MAS: 31 (59.6%) with sJIA, 19 (36.5%) – SLE, 1(1.9%) – juvenile dermatomyositis (JDM), 1 (1.9%) – overlap syndrome (JIA+JDM). Pts with MAS accounted of 26% of all pts with sJIA, 7.6% of all pts with SLE. The mean age of pts at onset of sJIA was 2.6 y [1.5; 5.75], at onset of SLE – 11.8 y [8.6; 13.95]. The patient with JDM was 6.5 years old, pts with overlap syndrome – 3.5 years old. Male to female ratio was 1:1,7. A total of 63 episodes of MAS was recorded (41 – in sJIA, 20 – SLE, 1 – JDM, 1 - overlap syndrome). 23 pts (44.2%) had MAS at onset, 26 pts (50%) – “classic” MAS (during the course of disease), 3 pts (5.8%) – recurrent MAS. The clinical manifestations of MAS included fever (90.4%), hepatomegaly (50%), pericarditis (46.2%), hemorrhagic rash (32.7%), neurologic involvement (42.3%), lung involvement (34.6%). We found hyperferritinemia in 98%, thrombocytopenia in 78.8%, increased transaminases in 88.5%, hypofibrinogenemia in 40.4%, hypertriglyceridemia in 42.3 % of pts. Most severe course of MAS was established in pts with ferritin levels >1500 ng/ml and with hypertriglyceridemia more than 6.0 mmol/l at an early stage. Bone marrow investigation was performed in 21 pts, and the evidence of haemophagocytosis was confirmed in 8 pts (38%). First features of MAS were fever, sleepiness, lower platelet counts, high TA. Lesions of the skin and mucous were mainly represented by point hemorrhages at an early stage in pts with SLE and MAS, the development of a bright rash with itching was typical for pts with sJIA and MAS. There are no principal differences between course of MAS in sJIA and other RD in children, but mild “subclinical” cases of MAS were observed only in pts with sJIA on biologics. For treatment of MAS all pts were administered high dose of glucocorticoids (per os+iv). Pts with SLE received: cyclophosphamide iv - 5 (26.3%), cyclosporine per os 1 (5.2%), IVIGs - 6 (31.6%), rituximab - 2 pts (10.5%). Pts with sJIA received: cyclosporine per os - 20 (64.5%), IVIGs - 25 (80.6%), 1 etoposide - (3.2%). Patient with overlap syndrome received cyclosporine per os. 8 pts (15.4%) died from MAS (3 with sJIA, 5 – with SLE).Conclusion:MAS can develop in various children’s RD, but more often in pts with sJIA. In our observation more pts had MAS during the course of disease, not at onset. Rapid recognition of MAS can improve treatment outcomes and prognosis.References:[1]Ravelli A, Minoia F, Davì S, et al. 2016.Disclosure of Interests:None declared

Autoimmune Hemolytic Anemia in HIV: A Case Series and Review of the Literature.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 3858-3858 ◽  
Author(s):  
David P.H. Wu ◽  
Joseph Caperna ◽  
Erin Reid
Keyword(s):  
Hemolytic Anemia ◽  
Autoimmune Hemolytic Anemia ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Case Series ◽  
High Dose ◽  
Hiv Patients ◽  
Latino Male ◽  
Positive Direct

Abstract Background: Patients infected with HIV are more likely to have positive direct antiglobulin tests (Toy, Am J of Hem 1985) but there have only been a few reports of HIV-related AIHA (autoimmune hemolytic anemia) in the literature. Here we report three new cases of AIHA in HIV infected patients diagnosed from July 2003 to September 2005 at UCSD. Methods: Patients were identified by clinical presentation to the HIV service. All cases were considered highly likely by hematologists to have AIHA (lab data table 1). Results: Patient #1 was a 43 yo Caucasian male with CD4 < 50 prior ITP and untreated recently diagnosed visceral KS. On presentation, he reported dyspnea and had hepatosplenomegaly. His Hb was 5.2, retic 14%, LDH 459, Ibili 0.7, haptoglobin <7; + microspherocytes on smear. He was started on high-dose glucocorticoids (GC) before PRBC transfusion, and tolerated it well other than one fever to 100F. He received prednisone (pred) 60mg daily with taper. 3 weeks later at follow-up he self-tapered pred to 20mg and Hb was 11.1. Once off pred, his Hb remained stable at 11 when he died from PML approximately 4 months after remission of AIHA. Patient #2 is a 43 yo Latino male presenting with syncope, dizziness, dyspnea and palpations. His Hb was 5.4, retic 8%, LDH 366, Ibili 1.2, haptoglobin < 7, with smears showing extensive microspherocytes. He was treated with high-dose GC and received PRBC with heparin prophylaxis. His Hb recovered to 12. He was tapered off GC over 8 months and remains in remission for the past 2 months with Hb 14. Patient #3 is a 38 yo Latino male with dyspnea. His Hb was 5.7, retic 8%. He symptomatically improved with PRBC, and subsequently had a rapid response to GC. Hb peaked at 13.5 through tapering of pred by 10 mg weekly to 30 mg daily. The patient missed follow-up and continued the rapid taper, hemolysis recurred 1 month after pred cessation. Pred 60mg qd was restarted with resolution of hemolysis; this recurred even with slow taper (2mg/week) below 20mg daily. Pred again increased to 60 mg daily and danazol 600mg bid added with resolution of hemolysis. Pred taper to 20 mg was tolerated. Conclusions: AIHA in HIV patients has been described mainly in single case reports and abstracts (Koduri, Am Jo Hematology 2002). Only a few reports include long-term follow-up and fewer have included precipitants for AIHA. Within 2 years, we have three HIV patients with documented AIHA under different clinical manifestations and responses to treatment. One patient had a recent diagnosis of KS, the 2nd had received penicillin for syphilis and the 3rd had no recent medical complications. All 3 patients tolerated transfusion which resulted in symptomatic improvement and responded successfully to pred. Patient #3 who had a high CD4, was the only one with recurrence of hemolysis upon pred taper; perhaps a higher CD4 count may be associated with more persistent AIHA. In the literature, there are 14 other cases of idiopathic AIHA in adults with HIV (summary table to be presented at meeting). Of the 6 cases with reported CD4 counts, all were less than 200. 4/14 cases had inadequate reticulocyte response demonstrating existence of additional factors contributing to anemia. Most cases (10/14) responded to standard AIHA treatments including GC, IVIG and splenectomy. Overall 5/14 had died at the time of the reports; 2 of these deaths were related to PCP after remission of AIHA. 2/8 cases receiving PRBC died of DIC that occurred after transfusion. Table 1 Case Hb gm/dl Retic % LDH IU/L Hapto mg/dl IBili mg/dl CD4 #/ml 1 5.2 13.9 459 <7 0.9 82 2 5.4 8.1 366 <7 1.2 86 3 5.7 8.1 317 <7 2.1 424

scholarly journals The SADDEN DEATH Study: Results from a Pilot Study in Non-ICU COVID-19 Spanish Patients

2021 ◽  
Vol 10 (4) ◽  
pp. 825
Author(s):  
Carlos Nicolás Pérez-García ◽  
Daniel Enríquez-Vázquez ◽  
Manuel Méndez-Bailón ◽  
Carmen Olmos ◽  
Juan Carlos Gómez-Polo ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Troponin I ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
Case Series ◽  
Functional Independence ◽  
Unexpected Death ◽  
Study Results ◽  
Male Sex

Introduction: The worldwide pandemic, coronavirus disease 2019 (COVID-19) is a novel infection with serious clinical manifestations, including death. Our aim is to describe the first non-ICU Spanish deceased series with COVID-19, comparing specifically between unexpected and expected deaths. Methods: In this single-centre study, all deceased inpatients with laboratory-confirmed COVID-19 who had died from March 4 to April 16, 2020 were consecutively included. Demographic, clinical, treatment, and laboratory data, were analyzed and compared between groups. Factors associated with unexpected death were identified by multivariable logistic regression methods. Results: In total, 324 deceased patients were included. Median age was 82 years (IQR 76–87); 55.9% males. The most common cardiovascular risk factors were hypertension (78.4%), hyperlipidemia (57.7%), and diabetes (34.3%). Other common comorbidities were chronic kidney disease (40.1%), chronic pulmonary disease (30.3%), active cancer (13%), and immunosuppression (13%). The Confusion, BUN, Respiratory Rate, Systolic BP and age ≥65 (CURB-65) score at admission was >2 in 40.7% of patients. During hospitalization, 77.8% of patients received antivirals, 43.3% systemic corticosteroids, and 22.2% full anticoagulation. The rate of bacterial co-infection was 5.5%, and 105 (32.4%) patients had an increased level of troponin I. The median time from initiation of therapy to death was 5 days (IQR 3.0–8.0). In 45 patients (13.9%), the death was exclusively attributed to COVID-19, and in 254 patients (78.4%), both COVID-19 and the clinical status before admission contributed to death. Progressive respiratory failure was the most frequent cause of death (92.0%). Twenty-five patients (7.7%) had an unexpected death. Factors independently associated with unexpected death were male sex, chronic kidney disease, insulin-treated diabetes, and functional independence. Conclusions: This case series provides in-depth characterization of hospitalized non-ICU COVID-19 patients who died in Madrid. Male sex, insulin-treated diabetes, chronic kidney disease, and independency for activities of daily living are predictors of unexpected death.

scholarly journals Brown Vialetto Van Laere syndrome, a fatal disease with a simple solution: a case series

2019 ◽  
Vol 6 (2) ◽  
pp. 880
Author(s):  
Nishant Mittal ◽  
Mahesh Kamate
Keyword(s):  
Hearing Loss ◽  
Metabolic Disorder ◽  
Age Of Onset ◽  
Specific Treatment ◽  
Case Series ◽  
High Dose ◽  
Cranial Nerve Involvement ◽  
Progressive Hearing Loss ◽  
Lower Cranial Nerve ◽  
Care Response

Brown Vialetto Van Laere (BVVL) syndrome is an extremely rare neuro metabolic disorder postulated to be caused by a defect in riboflavin transporter. The disease is characterized by progressive hearing loss with ataxia and difficulty in swallowing and breathing. The diagnosis of the disease requires great deal of suspicion on the part of treating physician. Here authors present 2 cases of BVVL who presented to us with dysphagia and hearing loss and responded to therapy. Brown Vialetto Van Laere (BVVL) syndrome is an extremely rare neuro metabolic disorder postulated to be caused by a defect in Riboflavin transporter. The disease is characterised by progressive hearing loss with ataxia and difficulty in swallowing and breathing. It is a subset in multiple acyl CoA dehydrogenase deficiency (MADD disorder). Age of onset is generally first to third decade of life. Lower cranial nerve involvement with LMN and UMN signs concomitantly is the striking feature. There is no specific treatment for BVVL except supportive care. Response to high dose riboflavin (20mg/kg/day) has produced promising results but the results may take anywhere from 1 week to 12 months to appear. 

scholarly journals Successful Diagnoses and Remarkable Metabolic Disorders in Patients With Solitary Hypothalamic Mass: A Case Series Report

2021 ◽  
Vol 12 ◽  
Author(s):  
Boni Xiang ◽  
Quanya Sun ◽  
Min He ◽  
Wei Wu ◽  
Bin Lu ◽  
...  
Keyword(s):  
Metabolic Disorders ◽  
Stereotactic Biopsy ◽  
Age Of Onset ◽  
Clinical Manifestations ◽  
Case Series ◽  
Initial Symptom ◽  
Safe Procedure ◽  
Metabolic Disturbances ◽  
Surgical Biopsy ◽  
Female Ratio

BackgroundSolitary intracranial hypothalamic mass occurs rarely. The etiological diagnosis of solitary hypothalamus lesion is challenging and often unachievable. Although previous studies indicated that lesions affecting the hypothalamus often cause significant metabolic disorders, few reports about the metabolic disturbances of patients with solitary hypothalamic mass have been reported.MethodTwenty-five patients with solitary hypothalamus lesions who had been evaluated and treated in Huashan Hospital from January 2010 to December 2020 were retrospectively enrolled. The clinical manifestations, radiological features, endocrine and metabolic disorders, and pathology were analyzed.ResultsThe male to female ratio was 5/20. The median age of onset was 22 (19, 35) years old. The most common initial symptom was polydipsia/polyuria (19/25, 76.0%) and amenorrhea (9/20, 45.0%). A high prevalence of hypopituitarism of different axes was found, with almost all no less than 80%. Central hypogonadism (21/22, 95.5%) and central diabetes insipidus (19/21, 90.5%) were the top two pituitary dysfunctions. Conclusive diagnoses were achieved by intracranial surgical biopsy/resection or stereotactic biopsy in 16 cases and by examining extracranial lesions in 3 cases. The pathological results were various, and the most common diagnoses were Langerhans cell histiocytosis (7/19) and hypothalamitis (5/19). The mean timespan from onset to diagnosis in the 19 cases was 34 ± 26 months. Metabolic evaluations revealed remarkable metabolic disorders, including hyperlipidemia (13/16, 81.3%), hyperglycemia (10/16, 62.5%), hyperuricemia (12/20, 60%), overweight/obesity (13/20, 65.0%), and hepatic adipose infiltration (10/13, 76.6%).ConclusionEither surgical or stereotactic biopsy will be a reliable and relatively safe procedure to help to confirm the pathological diagnosis of solitary hypothalamic mass. Metabolic disorders were severe in patients with solitary hypothalamic mass. The management of such cases should cover both the treatment of the primary disease, as well as the endocrine and metabolic disorders

scholarly journals The characteristics of overseas imported COVID-19 cases and the effectiveness of screening strategy in Beijing, China

2020 ◽  
Author(s):  
Li Li ◽  
Cheng-Jie Ma ◽  
Yu-Fei Chang ◽  
Si-Yuan Yang ◽  
Yun-Xia Tang ◽  
...  
Keyword(s):  
Laboratory Data ◽  
Clinical Manifestations ◽  
Screening Strategy ◽  
Normal Serum ◽  
Initial Presentation ◽  
Screening Tools ◽  
Great Success ◽  
Rt Pcr ◽  
Imported Cases ◽  
Beijing China

Abstract Background While great success in the coronavirus disease 2019 (COVID-19) control has been achieved in China, imported cases have become a major challenge. This study aimed to describe the epidemiological and clinical characteristics of imported COVID-19 cases and to assess the effectiveness of screening strategy in Beijing, China. Methods This retrospective study included all imported COVID-19 cases from Beijing Ditan Hospital from 29 February to 20 March 2020, who were screened by both chest computed tomography (CT) and reverse-transcriptase-polymerase chain reaction (RT-PCR) at initial presentation. Demographic, clinical and laboratory data, in addition to chest CT imaging were were collected and analyzed. Results A total of 71 imported cases were finally diagnosed with laboratory-confirmed COVID-19. The cases were mainly acquired from Europe (63 cases, 88.73%). The main clinical manifestations were fever and cough, which accounted for 30 cases (42.25%) and 35 cases (49.30%), respectively. Only 4 cases (5.63%) had lymphocytopenia and 13 (18.31%) cases demonstrated elevated levels of C-reactive protein (CRP). All cases had normal serum levels of procalcitonin (PCT). 35 cases (49.30%) had abnormal CT findings at initial presentation, whereas 36 cases (50.70%) had a normal CT. Using RT-PCR, 59 cases (83.10%) were tested positive at initial presentation. Conclusions The number of overseas imported COVID-19 cases continues to rise in China. The combination of screening tools, particularly CT and RT-PCR, can detect imported COVID-19 cases efficiently.

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