RESUMEN
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. Here we present a case of neuroendocrine tumor in a patient with neurofibromatosis type 1, highlighting the association between the two diseases. This case report also aimed to raise awareness of possible malignancies in patients with neurofibromatosis type 1.
RESUMEN
Griscelli 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. We also collect and evaluate similar published cases that feature this problem of explaining the neurological manifestations among GS2 patients.
RESUMEN
Malignant 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. Patients with rhabdoid tumors (RT) are treated according to institutional preferences that combine surgery, radiation therapy, and chemotherapy. The authors present the rare case of a child with xeroderma pigmentosum (XP) who presented with an abdominal mass accompanied by hematuria and abdominal pain. The radiological and histological results were congruent with the MRTK. The patient received preoperative chemotherapy but unfortunately died of septic shock. This case highlights the importance of being aware of MRTK and its fatal complications, as well as the increased risk of kidney tumors in patients with XP.
RESUMEN
Granulomatosis 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. The chest x-ray showed multiple pulmonary nodules, first suggesting a neoplastic origin. The initial etiological assessment was non-contributory. A month later, the patient developed pulmonary condensations and ocular signs. The etiological assessment then found ANCA anti-myeloperoxidase (anti-MPO)-GPA. A good knowledge of the clinical and radiological signs of GPA is important to quickly guide the diagnosis that will condition the prognosis of this disease.
RESUMEN
The cannonball pulmonary appearance is hematogenous dissemination of various primary tumors but rarely a Hodgkin's lymphoma, a disease that most commonly manifests with lymphadenopathy, often affecting the mediastinum and supraclavicular or cervical lymph nodes. To date, to the best of our knowledge, no case has been reported where the investigation of a cannonball pulmonary appearance led to the diagnosis of Hodgkin's lymphoma. Hence, in our case report, we attempt to highlight the uncommon presentation of this disease in a 14-year-old girl who initially presented with dyspnea before her chest x-ray revealed a cannonball pulmonary appearance, which was later linked with Hodgkin's lymphoma after performing a biopsy of her axillary node.