Browsing by Author "Lopes da Silva, R"
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- Acute Necrotizing Encephalopathy: The Importance of Imaging FeaturesPublication . Pereira Lemos, A; Conceição, C; Lopes da Silva, R; Brito, MJ
- Importância das Alterações Cutâneas no Diagnóstico de Doenças NeurológicasPublication . Mateus, AM; Lopes da Silva, R; Conceição, C; Vieira, JP
- Mental Nerve Neuropathy: A Rare Manifestation in Sickle Cell DiseasePublication . Alcafache, M; Santos, S; Sassetti, M; Batalha, S; Maia, R; Lopes da Silva, R; Kjöllerström, PMental nerve neuropathy is a peripheral sensory neuropathy, characterized by acute numbness of the chin area. It is a rare entity with diverse aetiology including, among others, local odontogenic causes and malignancy. In rare cases, it might be associated with sickle cell disease, due to the combined presence of hyperviscosity and the sinuous course of the mental nerve and artery through the mental foramen. The authors present the case of an adolescent girl with numb chin symptoms during a multifocal sickle cell crisis. The aim is to briefly review the causes of numb chin syndrome, emphasizing the differential diagnosis in sickle cell patients
- Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-Year Experience of a Pediatric Tertiary Hospital in PortugalPublication . Rebelo, M; Francisco, T; Perry da Câmara, R; Pereira, A; Iraneta, A; Amorim, M; Paiva Lopes, MJ; Lopes da Silva, R; Cordeiro, AIIntroduction: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases (MOCND) at a Portuguese pediatric tertiary hospital; 2) to share our institutional experience focusing on the most common conditions, neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC); 3) to analyze the advantages of a multidisciplinary center and approach in NCS. Methods: Retrospective analysis of 281 patients enrolled in the MOCND over the first five years of activity (October 2016 to December 2021), reviewing genetics, family history, clinical features, complications, and therapeutic strategies for NF1 and TSC. Results: The clinic works weekly with a core team of pediatricians and pediatric neurologists supported by other specialties as needed. Of the 281 patients enrolled, 224 (79.7%) had identifiable syndromes such as NF1 (n = 105), TSC (n = 35), hypomelanosis of Ito (n = 11), Sturge-Weber syndrome (n = 5), and others. In NF1 patients, 41.0% had a positive family history, all manifested café-au-lait macules, 38.1% neurofibromas with 45.0% being large plexiform neurofibromas. Sixteen were under treatment with selumetinib. Genetic testing was performed in 82.9% of TSC patients with pathogenic variants found in TSC2 gene in 72.4% patients (82.7% if considered contiguous gene syndrome). Family history was positive in 31.4%. All TSC patients presented hypomelanotic macules and fulfilled diagnostic criteria. Fourteen patients were being treated with mTOR inhibitors. Conclusion: Offering a systematic and multidisciplinary approach to NCS patients enables timely diagnosis, promotes a structured follow-up, and encourages discussion to outline management plans for optimal care to every patient, with significant impact on the quality of life of patients and families.
- Neuroimaging Findings in Paediatric Patients with Sickle Cell DiseasePublication . Abreu, VS; Xavier, S; Santos, M; Lopes da Silva, R; Kjöllerström, P; Conceição, CSickle cell disease (SCD) is an autosomal recessive haemoglobinopathy, which manifests as multisystem ischaemia and infarction, as well as haemolytic anaemia. The morphological changes of red blood cells (RBCs) that promote ischaemia/infarction as the main multi-systemic manifestation, with associated vasculopathy, may also lead to haemorrhage and fat embolisation. Bone infarctions, whether of the skull or spine, are relatively common with subsequent increased infectious susceptibility. We present a broad spectrum of brain and spine imaging findings of SCD from a level III paediatric hospital in Lisbon, between 2010 and 2022. Our aim is to highlight brain and spine imaging findings from a serial review of multiple patients with SCD and respective neuroimaging characterisation.
- Pancreatic Involvement by Plasma Cell NeoplasmsPublication . Lopes da Silva, RINTRODUCTION: Pancreatic involvement by plasma cell neoplasms is an extremely rare event, with only 50 cases described in the literature. They can present as a primary solitary extramedullary plasmacytoma or plasmacytoma secondary to a plasma cell myeloma. Clinical manifestations are due to the presence of a pancreatic mass usually in the pancreas head, which causes extra-biliary obstruction and abdominal pain. METHODS: Abdominal imaging including CT scan or endoscopic ultrasound with fine-needle aspiration tissue sampling is essential for the initial diagnostic procedure. However, immunohistochemical analysis of the biopsy specimen or flow cytometry of the aspirated material is crucial to prove the monoclonality and the final diagnosis of a plasma cell neoplasm. DISCUSSION: Management of these situations include radiotherapy, chemotherapy, surgery or combined therapy. Novel medications including the immunomodulatory drugs or the proteasome inhibitors followed by consolidation with intensive chemotherapy and haematopoietic stem cell transplantation are nowadays used as upfront treatment in the cases associated to a plasma cell myeloma. CONCLUSION: Despite the rarity, plasma cell neoplasms should be considered in the differential diagnosis of obstructive jaundice and pancreatic neoplasms since they are potentially treatable situations.