Cerebro-hepato-renal syndrome of zellweger: Clinical symptoms and relevant laboratory findings in 16 patients

1982 ◽  
Vol 139 (2) ◽  
pp. 125-128 ◽  
Author(s):  
L. Govaerts ◽  
L. Monnens ◽  
W. Tegelaers ◽  
F. Trijbels ◽  
A. van Raay-Selten
Keyword(s):  
Clinical Symptoms ◽  
Laboratory Findings

scholarly journals Adjuvant corticosteroid therapy in hepatosplenic candidiasis-related IRIS

2012 ◽  
Vol 4 (1) ◽  
pp. e2012018 ◽  
Author(s):  
Cengiz Bayram ◽  
Ali Fettah ◽  
Nese Yarali ◽  
Abdurrahman Kara ◽  
Fatih Mehmet Azik ◽  
...  
Keyword(s):  
Corticosteroid Therapy ◽  
Immune Reconstitution ◽  
Inflammatory Responses ◽  
Clinical Symptoms ◽  
Lymphoblastic Leukemia ◽  
Laboratory Findings ◽  
Hepatosplenic Candidiasis ◽  
Cell Acute Lymphoblastic Leukemia ◽  
Inflammatory Syndrome ◽  
Standard Risk

Hepatosplenic candidiasis (HSC) is a form of invasive fungal infection that occurs most commonly in patients with acute leukemia treated with chemotherapy and requires protracted antifungal therapy. Immune reconstitution inflammatory syndrome (IRIS) is best characterized as a dysregulated inflammatory responses triggered by rapid resolution of immunosuppression.We present a child diagnosed with standard-risk precursor B cell-acute lymphoblastic leukemia who developed HSC and Candida-related IRIS during recovery of neutropenia associated with induction chemotherapy. Addition of corticosteroid therapy to antifungal treatment is associated with the resolution of the clinical symptoms and laboratory findings

scholarly journals Epidemiological and clinical aspects of immunoglobulin A vasculitis in childhood: a retrospective cohort study

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Breda Luciana ◽  
Carbone Ilaria ◽  
Casciato Isabella ◽  
Cristina Gentile ◽  
Eleonora Agata Grasso ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Renal Involvement ◽  
Healthcare Delivery ◽  
Immunoglobulin A ◽  
Retrospective Chart Review ◽  
Paediatric Population ◽  
Clinical Aspects ◽  
Healthcare Delivery System ◽  
Laboratory Findings ◽  
Immunoglobulin A Vasculitis

Abstract Background A retrospective study was conducted in order to investigate and describe the characteristics of Immunoglobulin A vasculitis (IgAV), previously known as Henoch-Schӧnlein purpura, in the paediatric population of a community-based healthcare delivery system in the Italian region of Abruzzo. Methods This is a population-based retrospective chart review of the diagnosis of IgAV in children ages 0 to 18, admitted to the Department of Paediatrics of Chieti and Pescara between 1 January 2000 and 31 December 2016. All children enrolled presented with clinical symptoms and laboratory findings and met the EULAR/PRINTO/PRES 2008 criteria. Results Two-hundred-eight children met the criteria for IgAV, with the highest incidence reported among children below 7-years of age. A correlation with recent infections was found in 64% of the cohort; the onset was more frequently during the winter and fall. Purpura had a diffuse distribution in the majority of patients; joint impairment was the second most frequent symptom (43%), whereas the gastrointestinal tract was involved in 28% of patients. Conclusions Hereby, we confirm the relative benignity of IgAV in a cohort of Italian children; with regards to renal involvement, we report a better outcome compared to other studies. However, despite the low rate of renal disease, we observed a wide use of corticosteroids, especially for the treatment of persistent purpura.

Clinical and Epidemiological Features of Acute Zika Virus Infections in León, Nicaragua

2021 ◽  
Author(s):  
Natalie M. Bowman ◽  
Filemón Bucardo ◽  
Matthew H. Collins ◽  
Yaoska Reyes ◽  
Edwing Centeno Cuadra ◽  
...  
Keyword(s):  
Risk Factors ◽  
Sore Throat ◽  
Zika Virus ◽  
Clinical Symptoms ◽  
Laboratory Data ◽  
Maculopapular Rash ◽  
Laboratory Diagnosis ◽  
Zikv Infection ◽  
Serological Tests ◽  
Laboratory Findings

The American Zika virus (ZIKV) epidemic has highlighted the need to gain a better understanding of this emerging virus. The goal of this study was to describe the clinical symptoms, laboratory findings, and risk factors for symptomatic ZIKV infection in an area with ongoing transmission of other arboviral infections. We recruited patients at least 2 years of age seeking care at public health centers in León, Nicaragua, between January 2016 and August 2017, for fever, maculopapular rash, and/or nonsuppurative conjunctivitis with a duration of less than 1 week. A laboratory diagnosis of ZIKV was established using a combination of molecular and serological tests. Clinical and laboratory findings and potential risk factors were compared between participants with and without acute ZIKV infection. Fifty-eight (26%) of the 225 participants included in the analysis were found to have acute ZIKV infection. Pregnancy and reports of previous arboviral infection were associated with a higher risk of ZIKV infection. Rash, conjunctivitis, sore throat, and lower absolute neutrophil counts were associated with acute ZIKV infection. The clinical characteristics and risk factors identified were consistent with those identified by previous studies; however, we found sore throat to be a feature of ZIKV infection. We also found that neutrophil counts were lower in ZIKV-infected subjects. These clinical symptoms and laboratory data may help clinicians suspect ZIKV infection during future outbreaks.

Abstract 193: Hemophagocytic lymphohistiocytosis following kawasaki disease:Differential Diagnosis in IVIG Refractory Kawasaki Disease

Circulation ◽  
2015 ◽  
Vol 131 (suppl_2) ◽  
Author(s):  
Hyun Ok Jun ◽  
Eun Kyung Cho ◽  
Jeong Jin Yu ◽  
So Yeon Kang ◽  
Chang Deok Seo ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Coronary Artery ◽  
Kawasaki Disease ◽  
Skin Rash ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Clinical Symptoms ◽  
Early Recognition ◽  
Cervical Lymphadenopathy ◽  
Inflammatory Disorder ◽  
Laboratory Findings

Introduction: Hemophagocytic lymphohistiocytosis(HLH) is a systemic inflammatory disorder characterized by uncontrolled histiocytic proliferation, hemophagocytosis and up-regulation of inflammatory cytokines. Thus, both HLH and Kawasaki disease(KD) are characterized by prolonged fever, and are diagnosed by a clinical and laboratory scoring system, concurrent manifestation of HLH and KD has been described in the literature. We describe two cases of children who diagnosed as KD initially, but after intravenous gamma globulin(IVIG) failed to produce clinical response, were found to have HLH. Case report: A 3-year-old boy who had previous KD history 5 months ago was admitted for 9day fever and skin rash. His symptoms were fulfilled KD criteria, and echocardiography showed dilated right coronary artery of 4.2mm. He was treated with 2 cycles of IVIG until fever subsided. However, 2 days later, he got fever again and cytopenia(Hb<9.0), hypertriglyceridemia, high level of ferritin was shown and had splenomegaly on physical examination. In the suspicion of HLH, bone marrow biopsy was done and revealed hemophagocytosis, consistent with HLH. A second case of 11-month-old boy admitted for 8-day fever with Kawasaki feature. Although, he showed incomplete feature(fever, skin rash, conjunctival injection, cervical lymphadenopathy), echocardiography showed dilated left main coronary artery(3.5mm) and treated with IVIG. However, 2days after IVIG administration, he was still pyrexial. The laboratory findings fulfilled 5 diagnostic criteria of HLH; bicytopenia(anemia, thrombocytopenia), hypofibrinogenemia, hyperferritinemia, hemophagocytosis in bone marrow, raised level of soluble IL-2 receptor. In both cases, the patients treated according to the HLH protocol 2004, and after that clinical symptoms and laboratory findings were improved. Several causes of febrile illness, EBV, CMV, rubella, parvo-viral infection, for example, were excluded. Comment: There is considerable overlap between the clinical syndromes of KD and HLH and early recognition and treatment of these two disease entity is imperative to avoid fatal outcomes in severe cases. Thus, these should both be considered and excluded in any child with unremitting fever and rash.

scholarly journals Monostotic fibrous dysplasia at C7 treated with vertebroplasty: a case report and review of the literature

2019 ◽  
Vol 17 (1) ◽  
Author(s):  
Xin Xin ◽  
Jianhong Feng ◽  
Chen Yue ◽  
Tao Jin ◽  
Xinxin Liu
Keyword(s):  
Neck Pain ◽  
Fibrous Dysplasia ◽  
Clinical Symptoms ◽  
Treatment Options ◽  
Complete Removal ◽  
Posterior Fusion ◽  
Compression Injury ◽  
Laboratory Findings ◽  
Fusion Procedure ◽  
Patient Reported

Abstract Background Monostotic fibrous dysplasia (MFD) involving the spine is rare, and the treatment options are controversial. Surgery is needed when patients suffer from persistent pain, spinal cord compression/injury, and vertebral collapse/instability. Treatment methods include biopsy/observation, corpectomy with instrumented fusion, posterior fusion, vertebroplasty (VP), curettage and bone graft, and complete removal of the vertebra with a combined anterior and posterior fusion procedure. Case presentation The patient was a 56-year-old woman with a 2-year history of neck pain. No obvious abnormalities were detected on neurological or physical examination, and laboratory findings were all within normal limits. An imaging examination suggested a C7 vertebral bone tumor. The patient refused to continue conservative observation treatment and requested surgery. Open VP of the C7 vertebral body was carried out, and her postoperative neck pain was completely relieved. The postoperative pathological results supported the diagnosis of fibrous dysplasia, and the patient was ultimately diagnosed with MFD. At the 12-month follow-up visit, the patient reported no clinical symptoms, and no signs of tumor recurrence were detected. Conclusion VP can relieve pain while stabilizing the spine. Thus, the surgical treatment of MFD vertebral lesions by VP is a valuable option.

scholarly journals Vestibular migraine: An update on current understanding and future directions

Cephalalgia ◽  
2019 ◽  
Vol 40 (1) ◽  
pp. 107-121 ◽  
Author(s):  
Tzu-Chou Huang ◽  
Shuu-Jiun Wang ◽  
Amir Kheradmand
Keyword(s):  
Clinical Symptoms ◽  
Vestibular Function ◽  
Vestibular Migraine ◽  
Current Understanding ◽  
Laboratory Findings ◽  
Treatment Regimens ◽  
Migraine Headaches ◽  
Narrative Literature ◽  
Vestibular Symptoms ◽  
Narrative Literature Review

Background Vestibular migraine is among the most common causes of recurrent vertigo in the general population. Despite its prevalence and high impact on healthcare cost and utilization, it has remained an under-recognized condition with largely unknown pathophysiology. In the present article, we aim to provide an overview of the current understanding of vestibular migraine. Methods We undertook a narrative literature review on the epidemiology, presentations, clinical and laboratory findings, pathophysiology, and treatments of vestibular migraine. Results Currently, the diagnosis of vestibular migraine relies solely on clinical symptoms since clinical tests of vestibular function are typically normal, or difficult to interpret based on inconsistent results reported in earlier studies. The challenges related to diagnosis of vestibular migraine lie in its relatively broad spectrum of manifestations, the absence of typical migraine headaches with vestibular symptoms, and its very recent definition as a distinct entity. Here, we highlight these challenges, discuss common vestibular symptoms and clinical presentations in vestibular migraine, and review the current aspects of its clinical diagnosis and evaluation. The concepts related to the pathophysiology and treatment of vestibular migraine are also discussed. Conclusion Vestibular migraine is still underdiagnosed clinically. Future studies are needed to address the pathophysiological mechanisms and investigate effective treatment regimens.

scholarly journals Novel Coronavirus Infection (COVID-19) in Humans: A Scoping Review and Meta-Analysis

2020 ◽  
Vol 9 (4) ◽  
pp. 941 ◽  
Author(s):  
Israel Júnior Borges do Nascimento ◽  
Nensi Cacic ◽  
Hebatullah Mohamed Abdulazeem ◽  
Thilo Caspar von Groote ◽  
Umesh Jayarajah ◽  
...  
Keyword(s):  
Scoping Review ◽  
Clinical Symptoms ◽  
Meta Analysis ◽  
Laboratory Data ◽  
Gastrointestinal Symptoms ◽  
Common Disease ◽  
Imaging Data ◽  
Laboratory Findings ◽  
Number Of Patients ◽  
Novel Coronavirus

A growing body of literature on the 2019 novel coronavirus (SARS-CoV-2) is becoming available, but a synthesis of available data has not been conducted. We performed a scoping review of currently available clinical, epidemiological, laboratory, and chest imaging data related to the SARS-CoV-2 infection. We searched MEDLINE, Cochrane CENTRAL, EMBASE, Scopus and LILACS from 01 January 2019 to 24 February 2020. Study selection, data extraction and risk of bias assessment were performed by two independent reviewers. Qualitative synthesis and meta-analysis were conducted using the clinical and laboratory data, and random-effects models were applied to estimate pooled results. A total of 61 studies were included (59,254 patients). The most common disease-related symptoms were fever (82%, 95% confidence interval (CI) 56%–99%; n = 4410), cough (61%, 95% CI 39%–81%; n = 3985), muscle aches and/or fatigue (36%, 95% CI 18%–55%; n = 3778), dyspnea (26%, 95% CI 12%–41%; n = 3700), headache in 12% (95% CI 4%–23%, n = 3598 patients), sore throat in 10% (95% CI 5%–17%, n = 1387) and gastrointestinal symptoms in 9% (95% CI 3%–17%, n = 1744). Laboratory findings were described in a lower number of patients and revealed lymphopenia (0.93 × 109/L, 95% CI 0.83–1.03 × 109/L, n = 464) and abnormal C-reactive protein (33.72 mg/dL, 95% CI 21.54–45.91 mg/dL; n = 1637). Radiological findings varied, but mostly described ground-glass opacities and consolidation. Data on treatment options were limited. All-cause mortality was 0.3% (95% CI 0.0%–1.0%; n = 53,631). Epidemiological studies showed that mortality was higher in males and elderly patients. The majority of reported clinical symptoms and laboratory findings related to SARS-CoV-2 infection are non-specific. Clinical suspicion, accompanied by a relevant epidemiological history, should be followed by early imaging and virological assay.

Kikuchi–Fujimoto's Disease in a Pediatric Patient with Mycobacterium tuberculosis Infection

2017 ◽  
Vol 14 (05) ◽  
pp. 260-263 ◽  
Author(s):  
Muayad Alali ◽  
Jefree J. Schulte ◽  
Barbara A. Hendrickson
Keyword(s):  
United States ◽  
Mycobacterium Tuberculosis ◽  
Lupus Erythematosus ◽  
Clinical Symptoms ◽  
Case Reports ◽  
Young Male ◽  
The United States ◽  
Tuberculosis Infection ◽  
Mycobacterium Tuberculosis Infection ◽  
Laboratory Findings

AbstractKikuchi–Fujimoto's disease (KFD), alternatively termed histiocytic necrotizing lymphadenitis, was first described in 1972. KFD is rare in children, with most of the cases occurring between the ages of 20 and 30 years with a female-to-male ratio of 4:1. The etiology is unknown, although infectious and autoimmune mechanisms have been proposed. KFD manifests with a spectrum of nonspecific clinical symptoms and laboratory findings. KFD is without a definitive diagnostic test and is a diagnosis of exclusion, which must be differentiated from other disease processes with associated lymphadenopathy. Significant overlap in both clinical presentation and histological features with other diseases, such as non-Hodgkin lymphoma, systemic lupus erythematosus, and active tuberculosis (TB), presents challenges in diagnosis. A small number of case reports have been published describing the coexistence of KFD and active TB. Most reported cases occur in TB endemic areas. In the largest analysis of KFD, TB infection was concurrent in 2% of cases. Most of the cases occurred in adult patients. To our knowledge, there have been no pediatric cases of KFD with concurrent TB infection reported in the United States. This study describes a case of KFD with concurrent Mycobacterium tuberculosis infection in a young male from the United States.

scholarly journals Case Report: Infantile Urticaria as a Herald of Neonatal Onset Multisystem Inflammatory Disease With a Novel Mutation in NLRP3

2021 ◽  
Vol 12 ◽  
Author(s):  
Anna E. Patrick ◽  
Eden M. Lyons ◽  
Lisa Ishii ◽  
Alan S. Boyd ◽  
Joseph M. Choi ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Early Recognition ◽  
Novel Mutation ◽  
Genetic Diagnosis ◽  
Inflammatory Disorder ◽  
Laboratory Findings ◽  
Genetic Sequencing ◽  
Variants Of Unknown Significance ◽  
Unknown Significance ◽  
The Impact

Neonatal multisystem onset inflammatory disorder (NOMID) is a severe autoinflammatory syndrome that can have an initial presentation as infantile urticaria. Thus, an immediate recognition of the clinical symptoms is essential for obtaining a genetic diagnosis and initiation of early therapies to prevent morbidity and mortality. Herein, we describe a neonate presenting with urticaria and systemic inflammation within hours after birth who developed arthropathy and neurologic findings. Pathologic evaluation of the skin revealed an infiltration of lymphocytes, eosinophils, and scattered neutrophils. Genetic analysis identified a novel heterozygous germline variant of unknown significance in the NLRP3 gene, causing the missense mutation M408T. Variants of unknown significance are common in genetic sequencing studies and are diagnostically challenging. Functional studies of the M408T variant demonstrated enhanced formation and activity of the NLRP3 inflammasome, with increased cleavage of the inflammatory cytokine IL-1β. Upon initiation of IL-1 pathway blockade, the infant had a robust response and improvement in clinical and laboratory findings. Our experimental data support that this novel variant in NLRP3 is causal for this infant’s diagnosis of NOMID. Rapid assessment of infantile urticaria with biopsy and genetic diagnosis led to early recognition and targeted anti-cytokine therapy. This observation expands the NOMID-causing variants in NLRP3 and underscores the role of genetic sequencing in rapidly identifying and treating autoinflammatory disease in infants. In addition, these findings highlight the importance of establishing the functional impact of variants of unknown significance, and the impact this knowledge may have on therapeutic decision making.

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