Clinical value of cranial MRI in the diagnosis and treatment of central nervous system candidiasis / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the clinical value of cranial magnetic resonance imaging (MRI) in the diagnosis and treatment of central nervous system candidiasis (CNSC), which has no specific clinical manifestations and has no rapid and specific diagnostic tools.</p><p><b>METHODS</b>A retrospective analysis was performed on the clinical data of 10 children who were diagnosed with CNSC in Beijing Children's Hospital Affiliated to Capital Medical University between 2009 and 2013.</p><p><b>RESULTS</b>Nine of the 10 children underwent cranial MRI within 8 days after admission, and 5 of the 9 children underwent contrast-enhanced MRI at the same time. Eight of the 9 children showed the features of meningoencephalitis, and 6 cases were accompanied by varying degrees of brain atrophy; one case showed hydrocephalus and cerebral abscess, and another case showed leukoencephalopathy. Six cases were found to have the features of cerebral vasculitis after infection in the first MRI after admission, including cerebral infarction (2 cases), venous sinus thrombosis (3 cases), and Moyamoya disease (1 case). Infectious granulomatous lesions were confirmed by contrast-enhanced MRI in 3 cases. Given the clinical manifestations, 8 of the 9 cases were diagnosed as suspected CNSC after MRI, and 7 of these cases received antifungal therapy before the pathogen test results were returned. The lesions on MRI were improved in 6 cases after 3-4 weeks of antifungal treatment. All the 10 children were diagnosed with CNSC by positive cerebrospinal fluid culture results.</p><p><b>CONCLUSIONS</b>Cranial MRI, especially contrast-enhanced MRI, is of great significance for the diagnosis and treatment of CNSC. To confirm the guidance of MRI in the diagnosis and treatment of CNSC, further case-control studies are needed.</p>

Clinical features and gene mutation analysis of 4 Chinese children with X-linked lymphoproliferative disease / 中华实用儿科临床杂志

Objective To summarize clinical,gene mutation and their families of 4 Chinese children with X-linked lymphoproliferative (XLP) disease.Methods The clinical records and 6 genes of immunodeficiency associated with Epstein-Barr(EBV) infection were summarized and the literatures were reviewed.Results The four cases were all boys younger than 3 years old,who had onset with fever.They were all treated with ganciclovir,plasma,intravenous immunoglobulin and methylprednisolone after hospitalization,but 3 cases had the features of fulminant or fatal infectious mononucleosis (FIM),whose progression of disease was getting worse and died of second hemophagocytic lymphohistiocytosis (HLH) in the end.The survival time after onset was about 20 days.One boy had the complications of HLH associated with EBV infection and drug-induced hypersensitivity syndrome,who was improved and discharged from hospital.Two cases had adverse family history in which brothers or cousins died at younger ages.EBV-CAIgM and EBV-DNA of the 4 cases were all positive,with the copy of EBV DNA ＞ 108 copies/L.The results of the 6 genes of immunodeficiency associated with EBV infection of the 4 boys showed SH2D1A mutation.Mothers of 3 cases separately had the same SH2D1A mutation as her boy,while 1 mother refused to have the genes detected.Conclusions Patients who had the XLP were all male.Infants and young children under 5 years old usually had the features of FIM,with the complication of EBV associated HLH.Patients with XLP showed SH2D1A mutation.For male patients with FIM,especially those under 5 years,it is important to perform genetic detection early and to receive therapy as early as possible.