Neurofibromatosis type 1 (NF1) is an autosomal dominant condition characterized by café-au-lait spots, cutaneous neurofibromas, axillary and inguinal freckling, and iris Lisch nodules; however, the presentations vary greatly, even within families. NF1 is also a recognized risk factor for the development of malignancy particularly malignant peripheral nerve sheath tumors (MPNST), optic gliomas, other gliomas, and leukemia. Nevertheless, the occurrence of lung cancer in a patient with neurofibromatosis type 1 is a rare phenomenon.
View Article and Find Full Text PDFGriscelli syndrome (GS) is a rare genetic disorder that encompasses three different subtypes (GS type 1 (GS1), GS type 2 (GS2), and GS type 3 (GS3)), in which isolated neurological manifestations without immune system implications are typically seen in GS1, while neurological involvements in GS2 should be attributed to the macrophage and lymphocyte invasion of the central nervous system (CNS), under associated hemophagocytic lymphohistiocytosis (HLH). The presence of the clinical, biological, and hematologic features of HLH help explain the neurological defects that GS2 patients unusually present. In our case report, however, we attempt to highlight an uncommon presentation of GS2 involving a hemiparesis, along which we did not have any clinical or biological features of HLH.
View Article and Find Full Text PDFMalignant rhabdoid tumor of the kidney (MRTK) is a rare aggressive malignant rhabdoid tumor that mainly affects children. At the onset of the disease, the usual clinical manifestations are gross hematuria, abdominal pain, and abdominal distension. The prognosis remains poor.
View Article and Find Full Text PDFGranulomatosis with polyangiitis (GPA) is a necrotizing granulomatous vasculitis of medium- and small-caliber vessels associated with the presence of antineutrophil cytoplasm antibodies (ANCAs) and antibodies specific for proteinase 3 (anti-PR3). The interest of this case lies on the fact that these antibodies are directed against myeloperoxidase revealed by the presence of scattered multiple pulmonary nodules. We report a 65-year-old-female patient who presented with a productive cough with mucus sputum associated with a cephalea for six months.
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