Context: Progressive myoclonic epilepsy (PMS) begins in childhood or during adolescence, being a heterogeneous group of symptomatic progressive progressive generalized epilepsy. Composed of cortical myoclonus, multiple epileptic seizures, delayed or regressed neuropsychomotor development and cerebellar manifestations. Genetics is heterogeneous with a similar clinical presentation, which makes etiological definition difficult. Report a clinical case of generalized epilepsy, myoclonus, cerebellar condition and severe mental impairment. Analysis of medical records of a patient at Santa Casa de Belo Horizonte. Case report: MVPP, 17 years old, previously healthy, adopted son, normal neuropsychomotor development, first generalized tonic-clonic seizure at 8 years old, recurrence at 12 years old, being initiated by Valproato and Clobazam. In 2018 there was a worsening of the crises, perceived myoclonus, added Lamotrigine and Oxcarbazepine. EEG with continuous diffuse epileptic activity of subclinical epilepticus status and unchanged skull MRI. In 2019 he started with gait ataxia, balance changes, dysarthria, dysmetria, cognitive decline, loss of functionality and refractoriness to treatment. Valproate reduced and oxcarbazepine suspended. Video- EEG with ictal pattern of generalized wave polyspicle. Deteriorated cerebellar condition with extensive propaedeutic without alterations. There was no feasibility of genetic testing at the time. Methylprednisolone pulse therapy with partial improvement. Unsuccessful attempt to levetiracetam due to psychotic symptom. He presented lowering of the sensorium, bronchoaspiration and orotracheal intubation. He evolved with myoclonic status, adjusted for anti-crisis drugs, midazolam, thiopental, tracheostomy and gastrostomy. He maintained super- refractory status, being opted for callosotomy. He died within weeks of the procedure. Conclusion: The early diagnosis of PMS is a challenge, and its evolution is usually debilitating, with a poor prognosis and scarce specific treatment. Whenever possible, a genetic study is needed to define an etiological diagnosis.
Introdução ZFA, sexo feminino, 55 anos, hipertensa e diabética, com histórico de migrânea sem aura desde a infância, com bom controle. Apresentou mudança do padrão das crises em 2014, descritas como cefaleia estritamente em hemicrânio esquerdo, forte intensidade, duração 1-2 horas, recorrente, 3-4 ataques/dia, associada a hiperemia conjuntival e congestão nasal ipsilateral. Exame neurológico e Ressonância magnética de encéfalo sem alterações. Realizado teste com indometacina, sem resposta. Tratamento agudo com sumatriptano nasal (boa resposta). Tentado tratamento profilático com diversas medicações, tais quais: prednisona e bloqueio do nervo occipital (boa resposta por curto período), verapamil(resposta parcial), Lítio (sem resposta), melatonina (pouca resposta), clomifeno (resposta parcial). Após refratariedade ao tratamento, optado por iniciar varfarina, com redução significativa das crises. Por último, iniciado Ácido Valpróico (boa resposta) mantendo 1 ataque a cada 2 meses. Objetivo Relatar um caso de cefaleia em salvas crônica. Material e métodos Revisão bibliográfica em comparação ao relato de caso. Resultados A cefaleia em salvas é a mais comum das cefaleias trigeminoautonômicas. Tem prevalência 4-15,6/100000 habitantes, preferencialmente homens adultos jovens. Pode ser episódica ou apresentar-se de forma crônica, com pouca remissão e alta refratariedade terapêutica. Houve necessidade de terapia combinada com várias drogas, sendo a Varfarina uma droga chave, com redução de mais de 50% no controle dos ataques. A Varfarina é indicada apenas nos casos refratários, tem ação como antagonista da vitamina K no metabolismo dos dendritos e neurônios, no ritmo circadiano do hipotálamo e na inflamação neurogênica do óxido nítrico. Conclusões A cefaleia em Salvas possui diagnóstico clínico peculiar, sendo cada vez melhor reconhecida e diagnosticada, sendo que o conhecimento e instituição do tratamento precocepode melhorar a qualidade de vida dos pacientes.
Cluster headache is the most common of trigeminal autonomic cephalalgia, with variable prevalence. It can be episodic or chronic, with few remission and high therapeutic failure. The case refers to a 55-year-old female patient, hypertensive and diabetic, with a history of migraine without aura with pain management. In 2014, the patient began to present a new headache pattern, with a diagnosis of Chronic Cluster Headache. Pain management to nasal sumatriptan as an acute treatment. For the prophylactic treatment, she presented therapeutic failure to several medications, with pain management with the use of warfarin. Associated with valproic acid to control migraine. There are few cases described in the literature about the use of warfarin, and its mechanism is still unclear. Warfarin was a key drug, with more than a 50% reduction in attack control. There is a need for more clinical trials randomly that support it. Cluster headache has peculiar clinical diagnosis, being increasingly well recognized and diagnosed. Knowledge and institution of treatment can significantly improve the quality of life of patients, helping to recover the functionality of patients affected by treatment failure.
Context: Spondylodiscitis is a term that includes vertebral osteomyelitis, spondylitis and discitis. Among the vertebrae, the most affected are the lumbar (45%), followed by the thoracic (35%). Adults present themselves progressively, with a predominant complaint of low back pain and pain on palpation of the affected site, with significant limitation of movement due to muscle spasms. Report a clinical case with an emphasis on the possibility of early diagnosis and correct treatment aimed at the recovery of patients with neurological sequelae. Analysis of medical records in a patient admitted to the neurology ward of Santa Casa de Belo Horizonte. Clinical Case report: A.I.S. patient, 45 years old, with chronic low back pain due to asymmetry of the left lower limb. History of wear of the femoral head diagnosed in adolescence. Evolving for 2 months with progressive weakness in the lower limbs, associated with paresis and paresis in the left lower limb. He performed abdominal USG which showed hepatosplenomegaly with collateral circulation, increased caliber of the portal, splenic and superior mesenteric veins. Tomography of the lumbosacral spine with osteolytic lesions in the joints of L2-L3, L3-L4 and L4-L5., With almost total osteolysis of the L4 vertebral body, retropulsion of much later at this level, suggesting spondylodiscitis. The resonance of the lumbar spine performed with acute spondylodiscitis L2-L3 and L3-L4, compressing the roots of the equine tail with a comprehensive potential, remains as the emerging emerging roots. Liquid filling of the L3- L4 intervebral disc compatible with acute spondylodiscitis. Staphylococcus aureus and enterobacteria are responsible for more than half of the cases of non-tuberculosis. Conclusion: The diagnosis of discitis can be quite difficult, due to the rarity of the disease, the insidious symptoms and the high prevalence of low back pain in the general population. It is considered an important morbidity factor, as it causes an important neurological sequel. In addition, it points to the importance of differential diagnosis of low back pain in the population.
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