scholarly journals Anti-Ri-related Possible Autoimmune Encephalitis may Cause Intellectual and Developmental Disabilities in Pediatric Patients: A Case Report

2021 ◽  
Author(s):  
Zhijie Zhang ◽  
Jing Wu ◽  
Danfen Xu ◽  
Shennan Zhao ◽  
Di Lian ◽  
...  
Keyword(s):  
Inflammatory Markers ◽  
Pediatric Patients ◽  
Viral Infections ◽  
Clinical Manifestations ◽  
Autoimmune Encephalitis ◽  
Intellectual And Developmental Disabilities ◽  
Type Ii ◽  
Case Presentation ◽  
Positive Type ◽  
Development Disabilities

Abstract Objective: To describe two rare pediatric cases in which anti-Ri autoantibody-positive (Type II anti-neuronal nuclear antibody; ANNA-2-positive) autoimmune encephalitis occurred with intellectual and development disabilities.. Case presentation: We presented the clinical manifestations, etiological evaluation, and intellectual assessment of two ANNA-2-positive children and the clinical improvement after empirical immunotherapy. A 2-year-old girl with hyperactivity, agitation, and hand tremors and a 6-month-old boy who had dystonia were both diagnosed with intellectual and development disability. Both children tested positive for ANNA-2 and the serological inflammatory markers. Considering possible Ri antibody associated autoimmune encephalitis, empirical immunotherapy was done for both patients, intellectual disability of them improved to some extent. Conclusions: Although ANNA-2 has been mostly reported in adults with paraneoplastic syndrome, we report two ANNA-2-positive pediatric cases diagnosed as possible autoimmune encephalitis due to viral infections. These cases suggested that disruption of the immune system due to viral infection may lead to ANNA-2 positive status and contribute to intellectual and development disability in pediatric cases.

scholarly journals Combined presentation of severe pulmonary COVID-19 and multisystem inflammatory syndrome in children (MIS-C): two reported Egyptian pediatric cases

2021 ◽  
Vol 69 (1) ◽  
Author(s):  
Tarek Hamed ◽  
Dina T. Sarhan
Keyword(s):  
Critical Illness ◽  
Inflammatory Markers ◽  
Immune Modulation ◽  
Pediatric Patients ◽  
Clinical Findings ◽  
Case Presentation ◽  
Clinical Criteria ◽  
Inflammatory Syndrome ◽  
Lung Ct

Abstract Background Initial reports from the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic described children as being less susceptible to coronavirus disease (COVID-19) than adults. Later on, a severe and novel pediatric disorder termed multisystem inflammatory syndrome in children (MIS-C) emerged. Pediatric patients with SARS-CoV-2 are at risk for critical illness with severe pulmonary COVID-19 and MIS-C. Both are described as two distinct conditions, and the differentiation between them was the scope of many studies. In this report from Egypt, we will describe two unique pediatric cases presented by combined manifestations of severe pulmonary COVID-19 and MIS-C. Case presentation Two patients presented with severe pulmonary COVID-19 evident by pulmonary symptoms, signs, and advanced CO-RADS stage in lung CT were simultaneously fulfilling the clinical criteria of MIS-C including fever, multi-system affection, increased inflammatory markers in addition to the proved COVID-19 by positive serologic tests for SARS-CoV-2 but PCR was negative. Both patients responded well to immune-modulation therapy by IVIG and steroids and discharged well under closed follow-up. Conclusions Although it is debatable to present simultaneously, MIS-C should be considered in patients presenting with typical clinical findings and concerns for pulmonary COVID-19 once the criteria for MIS-C diagnosis is fulfilled. Starting treatment without delay can favor better prognosis.

scholarly journals Right Testicular Artery Occlusion and Acute Appendicitis by Angiostrongylus costaricensis

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Luis Enrique Sánchez-Sierra ◽  
Roberto Antonio Martínez-Quiroz ◽  
Héctor S. Antúnez ◽  
Humberto Cabrera-Interiano ◽  
Fernando Josué Barrientos-Melara
Keyword(s):  
Acute Abdomen ◽  
Pediatric Patients ◽  
Surgical Intervention ◽  
Clinical Manifestations ◽  
Signs And Symptoms ◽  
Artery Occlusion ◽  
Histopathological Study ◽  
Testicular Artery ◽  
Case Presentation ◽  
First Case

Introduction. Angiostrongylus costaricensis is a nematode from the superfamily Metastrongyloidea, whose etymology is “roundworm that lives in blood vessels”. This parasite can be found from the southern United States to northern Argentina and southern Brazil. In 1983, Morera and Ruiz published the first case of a testicular artery occlusion by A. costaricensis. Case Presentation. A five year old boy presented with eight days of pain, denying trauma backgrounds and followed with an increase of volume. The treatment was a right simply orchiectomy, finding necrosis of the testicle, the biopsy showed reddish-purple aspect and soft consistency. Histologic studies reveled the presence of a worm inside the testicular artery. Conclusion. The diagnosis of A. costaricensis infection should be considered in all pediatric patients, with signs and symptoms of orchitis or acute abdomen, from endemic areas, may cause occlusion of the testicular artery and appendicular artery causing testicular and cecal appendix necrosis, respectively, even putting the patient’s life at risk. The diagnosis is complex, because the clinical manifestations are similar to an orchitis or acute abdomen, therefore, the definitive diagnosis is made during the surgical intervention and histopathological study.

scholarly journals Autoimmune encephalitis with coexistent LGI1 and GABABR1 antibodies: case report

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yi Xie ◽  
Jia Wen ◽  
Zhihua Zhao ◽  
Hongbo Liu ◽  
Nanchang Xie
Keyword(s):  
Clinical Manifestations ◽  
Autoimmune Encephalitis ◽  
Behavioral Changes ◽  
Aminobutyric Acid ◽  
Slow Response ◽  
Case Presentation ◽  
Positive Serum ◽  
Supplement Therapy ◽  
Moderate Diffusion

Abstract Background Autoimmune encephalitis (AE) with multiple auto-antibodies is of great clinical significance because its complex clinical manifestations and atypical imaging increase the difficulty of diagnosis, differential diagnosis and treatment, which may aggravate the disease, increase the recurrence rate and mortality. The coexistence of anti-Leucinie-rich Glioma Inactivated 1 (LGI1) and anti-γ-aminobutyric acid-beta-receptor 1 (GABABR1) has not been published before. Case presentation We herein present the case of a 60-year-old man with slow response, behavioral changes, psychosis and sleep disorders. Laboratory test included serum hyponatremia, positive serum LGI1 and GABABR1 antibodies using transfected cell-based assays. Electroencephalogram exhibited moderate diffusion abnormality. The patient responded well to steroid impulse treatment and sodium supplement therapy, and did not recur during the follow-up. Conclusions Here we report the first AE characterized by positive LGI1 and GABABR1 antibodies, as well as summarizing AE with multiple auto-antibodies reported so far, hopefully to provide experience for clinical practice.

Polymyalgia Rheumatica - a Disease of the Elderly

2018 ◽  
Vol 69 (1) ◽  
pp. 152-154
Author(s):  
Vasilica Cristescu ◽  
Aurelia Romila ◽  
Luana Andreea Macovei
Keyword(s):  
Giant Cell Arteritis ◽  
Giant Cell ◽  
Polymyalgia Rheumatica ◽  
Temporal Arteritis ◽  
Viral Infections ◽  
Clinical Manifestations ◽  
The Elderly ◽  
Clinical Aspects ◽  
Immune Disorder ◽  
Markers Of Inflammation

Polymyalgia rheumatica is a disease that occurs mostly in the elderly and is rarely seen in patients less than 50 years of age. Polymyalgia rheumatica is a vasculitis, which manifests itself as an inflammatory disease of the vascular wall that can affect any type of blood vessel, regardless of its size. It has been considered a form of giant cell arteritis, involving primarily large and medium arteries and to a lesser extent the arterioles. Clinical manifestations are caused by the generic pathogenic process and depend on the characteristics of the damaged organ. PMR is a senescence-related immune disorder. It has been defined as a stand-alone condition and a syndrome referred to as rheumatic polyarteritis with manifestations of giant cell arteritis (especially in cases of Horton�s disease and temporal arteritis) which are commonly associated with polymyalgia. The clinical presentation is clearly dominated by the painful girdle syndrome, with a feeling of general discomfort. Polymyalgia and temporal arteritis may coexist or be consecutive to each other in the same patient, as in most of our patients. The present study describes 3 cases of polymyalgia rheumatica, admitted to the Clinic of Rheumatology of Sf. Apostol Andrei Hospital, Galati. The cases were compared with the literature. Two clinical aspects (polymyalgia rheumatica and/or Horton�s disease) and the relationship between them were also considered. Polymyalgia rheumatica is currently thought to have a multifactorial etiology, in which the following factors play a role: genetic factors or hereditary predisposition (some individuals are more prone to this disease), immune factors and viral infections (triggers of the disease). Other risk factors of polymyalgia rheumatica include age over 50 years and the association with giant cell arteritis. The characteristic feature of the disease is girdle pain, with intense stiffness of at least one hour�s duration. Markers of inflammation, erythrocyte sedimentation rate and C-reactive protein are almost always increased at the onset of the disease. Diseases that can mimic the clinical picture of polymyalgia rheumatica are neoplasia, infections, metabolic disorders of the bone and endocrine diseases.

scholarly journals X-linked congenital adrenal hypoplasia: a case presentation

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hong Ouyang ◽  
Bo Chen ◽  
Na Wu ◽  
Ling Li ◽  
Runyu Du ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Hormone Replacement ◽  
Slipped Capital Femoral Epiphysis ◽  
Clinical Manifestations ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
Case Presentation ◽  
Early Symptoms ◽  
Congenital Adrenal Hypoplasia ◽  
Adrenal Hypoplasia

Abstract Background Most patients with congenital adrenal hypoplasia (AHC) develop symptoms during infantile and juvenile periods, with varying clinical manifestations. AHC is a disease that is easily misdiagnosed as Addison’s disease or congenital adrenal hyperplasia (CAH). There was also a significant time difference between the age at which patients developed symptoms and the age at which they were diagnosed with AHC. Most patients showed early symptoms during infantile and juvenile periods, but were diagnosed with AHC many years later. Case presentation We are currently reporting a male patient who developed systemic pigmentation at age 2 and was initially diagnosed with Addison’s disease. At 22 years of age, he experienced a slipped capital femoral epiphysis (SCFE), a disease mostly seen in adolescents aged 8–15 years, an important cause of which is endocrine disorder. Testes evaluated using color Doppler Ultrasonography suggested microcalcifications. Further genetic testing and auxiliary examinations revealed that the patient had hypogonadotropic hypogonadism (HH) and DAX-1 gene disorders, at which time he was diagnosed with AHC complicated by HH. He was given hormone replacement therapy, followed by regular outpatient review to adjust the medication. Conclusions The typical early symptoms of AHC are hyperpigmentation and ion disturbance during infantile and juvenile periods, while few patients with AHC develop puberty disorders as early symptoms. AHC is prone to being misdiagnosed as Addison’s disease, and then gradually develops the symptoms of HH in adolescence. The definitive diagnosis of AHC ultimately is based on the patient’s clinical presentation, laboratory results and genetic testing results.

scholarly journals New onset diabetes with diabetic ketoacidosis in a child with multisystem inflammatory syndrome due to COVID-19

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Monica N. Naguib ◽  
Jennifer K. Raymond ◽  
Alaina P. Vidmar
Keyword(s):  
Metabolic Acidosis ◽  
Diabetic Ketoacidosis ◽  
Pediatric Patients ◽  
Systolic Function ◽  
Hemodynamic Instability ◽  
Case Presentation ◽  
Onset Diabetes ◽  
Potential Trigger ◽  
Inflammatory Syndrome ◽  
New Onset

AbstractIntroductionMultisystem inflammatory syndrome in children (MIS-C) is a unique clinical complication of SARS-CoV-2 infection observed in pediatric patients. COVID-19 is emerging as a potential trigger for the development of diabetes in children. Here, we report a patient presenting with MIS-C and new onset diabetes, and discuss the implication and clinical management of these concomitant conditions.Case presentationAn eight-year-old female presented with hyperglycemia, ketosis and metabolic acidosis consistent with diabetic ketoacidosis (DKA) in the setting of fever, rash, respiratory distress, hemodynamic instability, reduced systolic function with dilation of the left anterior descending artery, and positive SARS-CoV-2 antibodies suggestive of MIS-C.

scholarly journals The vagaries of IgM: a case report of EBV infection with concomitantly false-positive IgM for CMV, VZV, and HSV

2020 ◽  
Vol 32 (1) ◽  
Author(s):  
Raai Mahmood ◽  
Khalid Mohamed ◽  
Naba Saeed ◽  
Kadhim Al-Banaa ◽  
Jonathan Zimmerman ◽  
...  
Keyword(s):  
Infectious Mononucleosis ◽  
Total Bilirubin ◽  
Viral Infections ◽  
Total Bilirubin Level ◽  
Peripheral Blood Smear ◽  
Cross Reactivity ◽  
Immunoglobulin M ◽  
Case Presentation ◽  
Ebv Infection ◽  
Acute Infectious Mononucleosis

Abstract Background Serum IgM (immunoglobulin M) testing is commonly used to diagnose acute viral infections. However, most clinicians are unaware of the vagaries of IgM testing, including antigenic cross-reactivity between multiple viruses and risk misdiagnosis. Case presentation We report a case of infectious mononucleosis with concomitantly positive IgM for EBV, CMV, VZV, and HSV. A 26-year-old man presented with acute infectious mononucleosis picture. His blood work showed a total bilirubin level of 7.7 mg/dl, ALT 1077 U/L, AST 806 U/L, ALP 325 U/L, and INR 1.0. Monospot was positive; peripheral blood smear showed atypical lymphocytes; however, because EBV infectious mononucleosis does not typically cause elevation of liver enzymes over 1000, other etiologies were explored. Tests for hepatitis A, B, C, HIV, ANA, and ASMA returned negative. IgM for EBV-VCA, CMV, HSV, and VZV all returned positive, and the diagnosis of EBV IM was called into question. Subsequent tests of CMV and HSV PCR for viral load were negative (VZV was not clinically suspected), and later on, EBV-EBNA returned negative and EBV-VCA IgM and IgG returned positive, confirming the diagnosis of acute EBV infection. Conclusion We believe that IgM seropositivity can result from cross-reactivity among several viruses (especially herpes viruses), and although often relied on, a positive IgM should not serve as the sole determinant for diagnosis of acute viral infections.

scholarly journals Autoimmune encephalitis in a South Asian population

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Nilanka Wickramasinghe ◽  
Dhanushka Dasanayake ◽  
Neelika Malavige ◽  
Rajiva de Silva ◽  
Thashi Chang
Keyword(s):  
Sri Lanka ◽  
Psychiatric Symptoms ◽  
South Asians ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
Autoimmune Encephalitis ◽  
Asian Population ◽  
South Asian Population ◽  
Clinical Presentations

Abstract Background Autoimmune encephalitis (AE) is now considered a main, potentially curable cause of encephalitis, but remains conspicuously underreported from South Asia. We studied the clinical characteristics in relation to their antibody status and outcomes of patients presenting with AE in Sri Lanka. Methods Patients admitting to government hospitals who were clinically suspected of AE by an on-site neurologist were prospectively recruited over a period of 12 months. Sera and cerebrospinal fluid were tested for NMDAR, AMPAR1, AMPAR2, LGI1, CASPR2, GABARB1/B2 antibodies (Ab) using commercial cell-based assays. Demographic, clinical and laboratory data were compiled into an investigator-administered proforma. Patients were reviewed at 1 year follow up either in person or via telephone. Results One-hundred and forty-two patients from 21 of 25 districts in Sri Lanka (median age = 20.5 years; range 1–86 years; females = 61.3%) were recruited. Of them, 65 (45.8%; median age = 19 years; range 1–86 years; females = 64.6%) fulfilled diagnostic criteria for probable NMDAR-antibody encephalitis (NMDARE) and 6 (4.2%; median age = 44 years; range 28–71 years; females = 83.3%) limbic encephalitis (LE). Abnormal behaviour (95.3%), seizures (81.5%) and movement disorders (69.2%) were the most frequent clinical manifestations of probable NMDARE. NMDAR-antibodies were detectable in 29 (44.6%) and not detectable in 36 in CSF of probable-NMDARE patients. Abnormal EEG was more frequent (p = 0.003) while a worse outcome (OR = 2.78; 95% CI = 0.88–9.09) and deaths (OR = 2.38; 95% CI = 0.67–8.33) were more likely in antibody-negative than antibody-positive probable-NMDARE. Most patients with LE had amnesia (50%) and/or confusion (100%) with agitation (83.3%) and seizures (100%) but none had detectable antibodies to any of the antigens tested. Conclusions NMDARE is the commonest type of AE among South Asians as is the case worldwide. Clinical presentations of NMDARAb-positive and NMDARAb-negative AE patients do not significantly differ but EEG may be a useful marker of an autoimmune basis for psychiatric symptoms.

scholarly journals Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Qiao-Yan Shao ◽  
Pei-Lin Wu ◽  
Bi-Yun Lin ◽  
Sen-Jing Chen ◽  
Jian Liu ◽  
...  
Keyword(s):  
Digeorge Syndrome ◽  
Clinical Manifestations ◽  
Large Deletion ◽  
Terminal Deletion ◽  
Facial Features ◽  
Clinical Report ◽  
Review Of The Literature ◽  
Case Presentation ◽  
Contiguous Gene ◽  
Renal Abnormalities

Abstract Background Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. Case presentation Our patient presented with specific facial features, hypoparathyroidism, sen sorineural deafness, renal abnormalities, and developmental retardation, and carried a 12.6 Mb deletion in the 10p15.3 p13 region. The terminal 10p deletion involved in our patient is the second largest reported terminal deletion reported to date, and includes the ZMYND11 and GATA3 genes and a partial critical region of the DiGeorge syndrome 2 gene (DGS2). Conclusion On the basis of a literature review, this terminal 10p deletion in the present case is responsible for a specific contiguous gene syndrome. This rare case may help the understanding of the genotype–phenotype spectrum of terminal deletion of chromosome 10p.

scholarly journals 766. Everything Old is New Again-A Case Series of New World Leishmaniasis in African Children in Portland, Maine

2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S428-S428
Author(s):  
Jennifer Jubulis ◽  
Amanda Goddard ◽  
Elizabeth Seiverling ◽  
Marc Kimball ◽  
Carol A McCarthy
Keyword(s):  
Latin America ◽  
Cutaneous Leishmaniasis ◽  
New World ◽  
Pediatric Patients ◽  
Data Extraction ◽  
Clinical Manifestations ◽  
Case Series ◽  
Surgical Excision ◽  
Skin Lesions ◽  
Travel History

Abstract Background Leishmaniasis has many clinical manifestations and treatment regimens, dependent on species and host. Old world leishmaniasis is found primarily in Africa and Asia, and is associated with visceral disease, while new world disease, seen primarily in Latin America, is more commonly mucocutaneous. We present a case series of pediatric African patients with New World cutaneous leishmaniasis (NWCL). Methods Data extraction was performed via chart review, analyzing travel history, clinical presentation, diagnosis, and management in children with cutaneous leishmaniasis presenting to the pediatric infectious diseases clinic in Portland, ME. Biopsy specimens were sent to the federal CDC for identification by PCR and culture. Results Five cases of NWCL were diagnosed in pediatric patients in Maine from November 2018 through February 2020. Median age of patients was 10 years (range 1.5-15 years). Four cases (80%) occurred in children from Angola or Democratic Republic of Congo, arriving in Maine via Central/South America, with one case in a child from Rwanda who arrived in Maine via Texas. Three patients had multiple skin lesions and two had isolated facial lesions. Leishmaniasis was not initially suspected resulting in median time to diagnosis of 5 months (range 1-7 months). Four patients were initially treated with antibacterials for cellulitis and one was treated with griseofulvin. After no improvement, patients underwent biopsy with 2 patients diagnosed with L panamensis, 1 with L braziliensis, 1 with mixed infection (L panamensis and L mexicana), and 1 with Leishmania species only. One patient was managed with surgical excision, 3 with ketoconazole, and 1 was observed off therapy. Four patients were referred to otolaryngology. All continue to be followed in infectious disease clinic. Conclusion We present five cases of new world cutaneous leishmaniasis in African pediatric patients arriving to Maine through Latin America or Texas. Patients were diagnosed with cellulitis, tinea corporis or atopic dermatitis initially, underscoring importance of high index of suspicion in migrant patients. Detailed travel history and epidemiologic knowledge is essential to diagnosis, as patients may present with illness not congruent with country of origin. Optimal therapy remains unclear. Disclosures All Authors: No reported disclosures

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