Navegando por Autor "Campêlo, C.L.C."
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Artigo Ataxia and progressive myoclonic epilepsy associated with reduced ceramide synthase 1 (CERS1)(Journal Of The Neurological Sciences, 2015-10) Afonso, C.O.M.; Campos, M.L.S.; Mendes, V.L.; Campêlo, C.L.C.; Camilo, A.F.C.; Correia, Carlos Eduardo Rocha; Figueiredo, Marcelo Marinho de; Kok, F.; G. Junior, C.O.Background: Ceramides and their sphingolipid have a wide range of biological functions. Ceramide synthase 1 (CERS1) catalyzes the synthesis of C18 ceramide and is mainly expressed in the brain. Alterations of sphingolipid metabolism are involved in the patho genesis of many neurodegenerative disorders. Objective: Report a case of myoclonic epilepsy and ataxia associated with homozygous variant in the gene CERS1, described in only one family previously). Patients and methods: male, 22 years old with history of appendic ular ataxia since 01 years old, followed by slight myoclonic jerks that progressively worsened despite treatment instituted and delayed psychomotor development. He had a previous episode of generalized tonic-clinic seizures (CTCSs). The electroencephalography (EEG) showed bursts of generalized polyspikes and slow wave discharges and Magnetic Ressonance imaging of the brain showed signs of pontine atrophy, cerebellum and cerebellar peduncle medium and higher, associated with the pontine cross sign. Genomix exonme’s analysis demonstrated a homozygous variant of CERS1. Results: It was found a homozygous variant of CERS1 gene in a patient with epilepsy, ataxia and progressive myoclonic epilepsy, a rare condition currently described as myoclonic epilepsy type 8. Conclusion: Our case demonstrates that reduced levels of CERS1 could be associated with progressive myoclonic epilepsy and must be considered as a differential diagnosis, supporting that impairment of ceramide biosynthesis underlies neurodegeneration in humans. Futher studies may help to define the phenotypes more appropriately.Artigo Opsoclonus-myoclonus syndrome associated with herpes simplex encephalitis(Journal Of The Neurological Sciences, 2015-10-15) Afonso, C.O.M.; Campos, M.L.S.; Maia, Ferdinand Gilbert Saraiva da Silva; Campêlo, C.L.C.; Camilo, A.F.C.; Correia, Carlos Eduardo Rocha; Fernandes, José Veríssimo; Figueiredo, Marcelo Marinho de; Silva, R.A.Background: Opsoclonus-myoclonus ataxia is a rare neurologic syn drome, often paraneoplastic in origin, but reported in association with various infections. Little is known about adult-onset opsoclonus myoclonus syndrome (OMS) outside of individual case reports Objective: Describe a case of herpes-simplex virus 1 encephalitis presenting as opsoclonus-myoclonus ataxia Patients and methods: A 35 year-old woman, with no known comorbidities, developed a headache with nausea and vomiting, without fever or nuchal rigidity. In the following 48-hours, she presented an altered mental status, opsoclonus and myoclonus and was admitted to hospital. Lumbar puncture: 40 cells (60% mononu clear), protein 140 mg/dL and a normal glucose. Gram stain and culture for bacteria and fungi were negative. A PCR for herpes simplex virus was positive. Brain MRI: normal. Chest, Abdomen and Pelvis CT: no signs of neoplasia. Results: The patient received intra-venous acyclovir for 21 days, with resolution of symptoms Conclusion: OMS is an uncommon presentation of infections of central nervous system. Its fame extends further to the fact that OMS can be a harbinger of occult malignancy. The Adult-onset presentation is rare. Paraneoplastic and parainfectious causes (particularly virus) are common; however, more often OMS in adults occurs after systemic infection. After this report, HSV1 infection should be considered in OMS cases. We described the first case of OMS secondary to Herpes-Simplex Virus 1 infection.