Os aneurismas intracranianos saculares são oriundos da dilatação e enfraquecimento de artérias do polígono de Willis e sua gênese está associada, principalmente, a fatores genéticos, assim como hipertensão arterial sistêmica e tabagismo. A ruptura desses aneurismas leva à hemorragia subaracnoide (HSA), sendo uma importante causa de mortalidade nos serviços de emergência. A terapêutica se concentra na prevenção e tratamento das complicações. Relatamos um caso de uma mulhercom 57 anos admitida no serviço de urgência neurocirúrgica com história de cefaleia súbita intensa e rebaixamento do nível de consciência. Foi realizada tomografia computadorizada do crânio sem contraste que evidenciou HSA escore IV na escala de Fisher e uma arteriografia cerebral observando aneurisma em artéria cerebral média esquerda.
Introduction: NBIA is a rare disease, with a prevalence of 1/1,000,000.It is characterized by abnormal iron accumulation. Clinical findings may include progressive extrapyramidal disorders, involvement of the pyramidal, peripheral, autonomic nervous systems, superior cortical, visual and cerebellar functions. The diagnosis is made through the association of clinical findings and complementary exams. Currently, the treatment is only symptomatic, with no specific therapy. Case report: 5-year-old female, reporting involuntary movements and difficulty walking a day ago. Presented agitation and delayed neuropsychomotor development, seen since 1 year of age. On examination, dysarthria, dystonia and parkinsonian stiffness were observed. MRI of the brain showed the radiological signal “tiger’s eye” and the ophthalmological evaluation showed retinal dystrophy. Positive acanthocyte screening. NBIA’s NGS panel confirmed the diagnosis. Triexfenid was started and there was an improvement in movement disorders. In outpatient follow-up, the symptoms worsened. Levodopa was associated with the return of walking without support and ability to pick up objects. Discussion: In this case, Triexafenid 2mg/day was initially prescribed, with a slight improvement in movement disorders. Levodopa was started with the aim of improving symptoms of parkinsonian stiffness. The excellent response to the association of the drug in low doses stands out, enabling ambulation and functionality for daily activities. Conclusion: NBIA is a rare disease, with rapid onset and progression. Studies show limited benefits of levodopa in the case of PKAN. We emphasize significant clinical improvement, with a return to walking after administration of the drug.
Introduction: Schwannoma is the most common benign tumor of the peripheral nerve sheath. They appear in the sheath of the nervous fascicle and are well-defined masses, which allow their dissection of the underlying neural bundle. Sciatic nerve involvement is rare, accounting for less than 1%. Case report: Male, 83. He has had sciatica on the left for 10 months. With progression of pain, VAS of 9 and difficulty to walk for 1 month after admission. On physical examination, a positive tinel sign in the left gluteal region with tactile perception of nodular lesion in sciatic nerve topography. Preserved and discrete hypoesthesia strength in left sciatic nerve territory. MRI shows nodular lesion, suggestive of neural sheath tumor. Undergoing a surgical procedure for excision of the lesion. Total resection of the lesion was performed with no changes in monitoring potential. The patient was discharged from the hospital the next day, with a VAS of 0, with no other complaints and pain control. Discussion: Schwannomas have a long subclinical course, their clinical presentation is usually misleading. The referred patient started with sciatica, with painful progression to VAS 9. The diagnoses of sciatic nerve schwannomas are made with MRI. The definitive diagnosis is possible after the histopathological study. The treatment of this tumor is by massive excision and preservation of the nerve. Conclusion: Studies regarding sciatic nerve Schwannoma are scarce. There is a need for further studies on the case, to train health professionals to recognize and effectively treat the pathology.
Cervical glioblastoma multiforme (GBM) is rare, and its early diagnosis and management is crucial to patient survival. In the young population, it’s even more difficult to diagnose. The main challenges in GBM therapy are associated with the location of the disease and its complex and heterogeneous biology. Here, we present a case of a 35-year-old female patient admitted due to complain of pain in her right lower limb. She reported the evolution of the condition for dysesthesia in upper limbs and lower limbs 4 weeks ago. MRI showed an intramedullary lesion extending from C2 to C5. The patient was managed surgically. The purpose of this report is to document this rare condition, especially in the young age group, and reveal the current knowledge regarding intramedullary GBM.
Introdução. A paraparesia espástica, doença causada pelo HTLV-1, é considerada uma complicação grave e incapacitante para o paciente infectado, caracterizando-se como uma doença crônica e progressiva que gera sobretudo um processo inflamatório a nível medular e um enorme impacto no ambiente social da pessoa. Objetivos. Discutir as possibilidades terapêuticas atuais disponíveis para paraparesia espástica tropical em adultos. Método. Revisão sistemática de artigos publicados na plataforma PubMed entre 2015 e 2020. Resultados. Enose-Akahata et al, 2019, relatou que não houve eficácia clínica com o tratamento com Hu-Mik beta 1, apesar de não ter havido progressão da doença durante o tratamento. Sato et al, 2018, demonstrou que o uso de mogamulizumab, diminuiu o número de células infectadas pelo HTLV-1 e os níveis de marcadores inflamatórios, mas os efeitos clínicos precisam ser esclarecidos em pesquisas futuras. Nobre et al, 2018, determinou a diversidade genética do HTLV-1, observando uma taxa de variação baixa em comparação com demais vírus, como o da gripe e da varíola. Matsuo et al, 2018, nota que houve melhora sintomatológica após o tratamento com prosultiamina oral nos pacientes com bexiga hiperativa. Conclusão. Dessa forma, não há tratamento específico e totalmente eficaz, havendo a necessidade de associação de fármacos.
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