RESUMO
X-linked lymphoproliferative disease (XLP) is a rare primary immunodeficiency. Affected individuals usually present with the Epstein-Barr virus infection and have no apparent disease prior to presentation. The most common clinical manifestations are fulminant infectious mononucleosis, dysgammaglobulinaemia, and lymphoma (usually of B-cell origin). XLP is caused by mutations in the SH2D1A gene which encodes the intracellular adaptor molecule SAP (signalling lymphocyte activation molecule- (SLAM-) associated protein). SAP is predominantly expressed in T cells and NK cells and functions to regulate signal transduction pathways downstream of the SLAM family of surface receptors to control CD4+ T cell (and by extension B-cell), CD8+ T cell and NK cell function, and development of NKT cells. Thus, SAP mutations cause dysregulation of the immune system, with defects in both cellular and humoral immunity. Here we report two clinical cases of three patients who presented with different manifestations of XLP, namely, fulminant infectious mononucleosis, Burkitt lymphoma and hypogammaglobulinaemia.
RESUMO
Rotavirus is a non-enveloped double-stranded RNA virus that causes severe gastroenteritis in children, but complications are rarely reported. Some reports have shown that rotavirus can induce diverse complications of the central nervous system, such as seizures, encephalopathy with a reversible splenial lesion, encephalitis, cerebral white matter abnormalities, and cerebellitis. Here, we present a 2-year-old patient with seizures, who had an isolated splenial lesion in the corpus callosum on neuroimaging, and the rotavirus antigen detected in faeces.
