A delayed diagnosis of X-linked hyper IgM syndrome complicated with toxoplasmic encephalitis in a child: A case report and literature review

Conclusions: A more thorough clinical history and some features like recurrent respiratory infections, protracted diarrhea, and persistent or intermittent neutropenia companioned with oral ulcer could increase clinical suspicion of XHIGM. Cerebral toxoplasmosis is rare in patients with XHIGM, but still should be considered. The present study firstly reported a delayed diagnosed case of XHIGM with CD40L gene c.654C>A (p.C218X) mutant complicated with toxoplasma encephalitis in Chinese population, which highlighted the importance of CD40-CD40L interaction in cell-mediated immunity against T gondii.
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

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Shanshan Zhang1, Dongli Yuan2 and Ge Tan1* 1Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China 2The Institute of Medical Information, Chongqing Medical University, Chongqing, China Primary systemic vasculitis can affect every structure in both the central and peripheral nervous system, causing varied neurological manifestations of neurological dysfunction. Early recognition of the underlying causes of the neurological symptoms can facilitate timely treatment and improve the prognosis. This review highlights the clinical manifestations of primary systemic vasc...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Conclusions: Listeria encephalitis is a severe disease and should be remembered in cases admitted with symptoms related to the brainstem and cranial nerve dysfunction. Cranial magnetic resonance imaging with brainstem and cerebellum involvements and contrast enhancement with or without abscess are particularly suggestive of the listeria-related infection.
Source: The Neurologist - Category: Neurology Tags: Review Article Source Type: research
AbstractTo describe autoantibodies (Abs) against tripartite motif-containing (TRIM) protein 9 and 67 in two patients with paraneoplastic cerebellar degeneration (PCD) associated with lung adenocarcinoma. Abs were characterized using immunohistochemistry, Western blotting, cultures of murine cortical, and hippocampal neurons, immunoprecipitation, mass spectrometry, knockout mice forTrim9 and67, and cell-based assay. Control samples included sera from 63 patients with small cell lung cancer without any paraneoplastic neurological syndrome, 36 patients with lung adenocarcinoma and PNS, CSF from 100 patients with autoimmune en...
Source: The Cerebellum - Category: Neurology Source Type: research
Honnorat J Abstract To describe autoantibodies (Abs) against tripartite motif-containing (TRIM) protein 9 and 67 in two patients with paraneoplastic cerebellar degeneration (PCD) associated with lung adenocarcinoma. Abs were characterized using immunohistochemistry, Western blotting, cultures of murine cortical, and hippocampal neurons, immunoprecipitation, mass spectrometry, knockout mice for Trim9 and 67, and cell-based assay. Control samples included sera from 63 patients with small cell lung cancer without any paraneoplastic neurological syndrome, 36 patients with lung adenocarcinoma and PNS, CSF from 100 pat...
Source: Cerebellum - Category: Neuroscience Authors: Tags: Cerebellum Source Type: research
Abstract CLINICAL ISSUE: Autoimmune disorders of the central nervous system (CNS) are common but are also a heterogeneous group of diseases. The most common form is multiple sclerosis (MS), others are clinically isolated syndrome (CIS), acute demyelinating encephalomyelitis (ADEM) and neuromyelitis optica spectrum disorders (NMOSD). Paraneoplastic syndromes are rare and tumor-associated, they are not induced by direct invasion of tumor tissue but by tumor-associated autoantibodies mostly against specific CNS proteins, e. g. limbic encephalitis and paraneoplastic cerebellar ataxia or degeneration. DIAGNOSTIC...
Source: Der Radiologe - Category: Radiology Authors: Tags: Radiologe Source Type: research
Authors: Sai Y, Zhang X, Feng M, Tang J, Liao H, Tan L Abstract The aim of the present retrospective study was to investigate the diagnosis, treatment and prognosis of pediatric anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis. A total of 23 pediatric patients with anti-NMDAR encephalitis were included in the present study. The clinical data, laboratory test results, imaging examination, treatment outcomes, and follow-up records were reviewed and analyzed. A total of 8 patients exhibited prodromal symptoms, including fever, cough, and vomiting. Clinical symptoms included epilepsy, convulsions, ataxia, c...
Source: Experimental and Therapeutic Medicine - Category: General Medicine Tags: Exp Ther Med Source Type: research
ml;ncel İH, Güven A Abstract PURPOSE: We aimed to present clinical and radiologic characteristics of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) in children. METHODS: Eight children (5 boys and 3 girls; median age, 5.9 years; age range, 8 months to 14.1 years) diagnosed with MERS between September 2015 and June 2017 were included in the study. We reviewed the patient's data, including demographic characteristics, prodromal and neurologic symptoms, neurologic examination, magnetic resonance imaging and electroencephalography findings, laboratory findings, treatment, and prog...
Source: Diagnostic and Interventional Radiology - Category: Radiology Authors: Tags: Diagn Interv Radiol Source Type: research
ConclusionNot every diffuse restriction observed on MRI indicates an ischemic stroke. Although radiologic images of the splenium may suggest acute ischemic infarction, the actual cause may be another pathology. Therefore, the symptoms and aetiologies of patients with splenium lesions should be considered and investigated from a wide range of perspectives.
Source: Acta Neurologica Belgica - Category: Neurology Source Type: research
We report the case of an 18-year-old woman presented with cerebellar ataxia, blurred vision, rapidly progressive dementia, tremor and involuntary movements, urinary incontinence, mutism, and eventually myoclonus for 16 weeks. Brain MRI scans were unremarkable at the 4th and 8th week after initial symptom presentation, but showed hyperintensity in bilateral basal ganglia and cortical ribboning at the 16th week. Typical periodic bilateral triphasic sharp wave complexes on EEG did not appear until the 16th week after initial symptom presentation. Diagnoses: Due to the young age of the patient and the originally unremarkabl...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
ConclusionsWe reported a rare case of BBE complicated with PRES. We report a very rare case of posterior reversible encephalopathy syndrome complicated with Bickerstaff's brainstem encephalitis prior to the intravenous immunoglobulin therapy. The treatment of a high‐dose intravenous immunoglobulin therapy was effective, her consciousness level was rapidly improved.
Source: Clinical and Experimental Neuroimmunology - Category: Neurology Authors: Tags: Case Report Source Type: research
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