Trombosis senovenosa cerebral en un recién nacido con mutación MTHFR C677T tratado con enoxaparina / Cerebral sinovenous thrombosis in a newborn with mutation of MTHFR C677T treated with enoxaparin

Resumen: Introducción: La trombosis senovenosa cerebral neonatal (TSVC), es una patología rara y generalmente grave, de la cual se conoce poco sobre los mecanismos fisiopatológicos responsables y, aunque controvertido, se ha sugerido que la trombofilia genética, puede desempeñar un rol en la patogénesis. Debido a los temores de un sangrado intracraneal el tratamiento anticoagulante con heparina de bajo peso mole cular es controvertido. Objetivo: presentar un recién nacido con una trombosis senovenosa cerebral neonatal, discutir los factores de riesgo trombofílico, y el manejo con heparina de bajo peso molecu lar de la trombosis venosa cerebral. Caso Clínico: Recién nacido de término que debutó a los 8 días de vida con convulsiones clónicas, rechazo al pecho más hipoactividad motora. La neuroimagen con RM mostró una TSVC involucrando múltiples senos venosos, un infarto hemorrágico talámico dere cho y congestión venosa de la sustancia blanca frontal. El estudio de trombofilia puso de relieve una mutación homocigota del gen MTHFR C677T. El tratamiento con heparina de bajo peso molecular se asoció a repermeabilización del seno sagital superior a los 23 días de iniciada la terapia. Conclusio nes: La presentación clínica de la TSVC en el neonato es inespecífica, probablemente en relación con la extensión y gravedad de la lesión y el desarrollo de complicaciones asociadas, como infartos he morrágicos venosos intraparenquimatosos o hemorragia intraventricular. Estas complicaciones son detectables mediante Ecografia o Resonancia Magnética, y deben hacer sospechar una TSVC. En esta experiencia el tratamiento anticoagulante mostró ser seguro y prevenir la extensión de la trombosis.

Abstract: Introduction: Neonatal cerebral sinovenous thrombosis (CSNT) is a rare and generally serious con dition about which there is little knowledge of the responsible pathophysiological mechanisms and, although controversial, it has been suggested that genetic thrombophilia may play a role in its patho genesis. Out of concern for intracranial bleeding, the anticoagulant treatment with low-molecular- weight heparin is controversial. Objective: To present a case of a newborn with neonatal CSNT, to analyze the thrombophilic risk factors, and the management of cerebral venous thrombosis with low-molecular-weight heparin. Clinical Case: Full-term newborn who presented at eight days of life breastfeeding rejection, clonic seizures, and locomotor hypoactivity. The MRI neuroimaging showed a CSNT involving multiple venous sinuses, a right thalamic hemorrhagic infarction, and venous congestion in frontal white matter. Thrombophilia study highlighted a homozygous MTHFR C677T mutation. Treatment with low-molecular-weight heparin was associated with repermeabilization of the superior sagittal sinus after 23 days of starting therapy. Conclusions: The clinical presentation of CSNT in the neonate is nonspecific, probably related to the extent and severity of the injury and the development of associated complications, such as venous hemorrhagic infarctions and intraparenchymal or intraventricular hemorrhage. These complications are detected through ultrasound or MRI, and they should make us suspect a CSNT. In this experience, the anticoagulant treatment proved to be safe and prevents thrombus propagation.

L-methylfolate, a new option in psychiatric treatment, would it be linked to psoriasis relapse? / L-metilfolato, uma nova opção no tratamento psiquiátrico, estaria ligado à recaída de psoríase?

ABSTRACT We report a case of a 61-years-old woman in remission of psoriasis for 20 years. She presented recurrence of psoriasis in the form of plaques few days after taking L-methylfolate 15mg/day. The L-methylfolate was prescribed as an adjuvant for the treatment of depression in a patient with the methylenetetrahydrofolate reductase gene polymorphism (MTHFR).

RESUMO Paciente do sexo feminino, 61 anos, em remissão da psoríase por 20 anos. Apresentou recidiva de psoríase em forma de placas poucos dias após início de tratamento L-metilfolato na dose diária de 15mg. O L-metilfolato foi prescrito como terapêutica coadjuvante para tratamento de depressão em paciente portadora do polimorfismo do gene metilenotetrahidrofolato redutase.

Rizotomia dorsal seletiva (RDS) para espasticidade: técnica minimamente invasiva no cone medular / Selective dorsal rhizotomy (SDR) for spasticity: minimally invasive technique at conus medullaris

A rizotomia dorsal seletiva é um procedimento cirúrgico bem aceito no manejo da espasticidade e tem como objetivo o alívio desse sintoma em pacientes cuidadosamente selecionados. Neste estudo, apresentamos o método que utilizamos em nosso serviço para indicação de pacientes, bem como a técnica cirúrgica e o método de monitorização neurofisiológica intraoperatória utilizado para otimizar os resultados. Realizamos também uma revisão bibliográfica utilizando os sites de busca da PubMed/MedLine e Lilacs, com artigos publicados entre os anos de 1965 e 2013. Os descritores utilizados foram: "rizotomia", "espasticidade", "paralisia cerebral" e "monitorização intraoperatória". Foram selecionados 17 artigos para este estudo.

Selective dorsal rhizotomy is a well-accepted cirurgic procedure utilized for relieving spasticity in carefully selected patients. In this work, we present the method we use to indicate the patients, the operative technique, and the intraoperative monitoring technique used in order to obtain the best results. We also reviewed the literature through the online databases PubMed/MedLine and Lilacs, with published papers from 1965 to 2013, descriptors included "rhizotomy", "spasticity", "cerebral palsy" and "intraoperative monitoring". We selected 17 articles for this study.

Extraarticular Subtalar Arthrodesis for Pes Planovalgus: An Interim Result of 50 Feet in Patients with Spastic Diplegia

BACKGROUND: There are no reports of the pressure changes across the foot after extraarticular subtalar arthrodesis for a planovalgus foot deformity in cerebral palsy. This paper reviews our results of extraarticular subtalar arthrodesis using a cannulated screw and cancellous bone graft. METHODS: Fifty planovalgus feet in 30 patients with spastic diplegia were included. The mean age at the time of surgery was 9 years, and the mean follow-up period was 3 years. The radiographic, gait, and dynamic foot pressure changes after surgery were investigated. RESULTS: All patients showed union and no recurrence of the deformity. Correction of the abduction of the forefoot, subluxation of the talonavicular joint, and the hindfoot valgus was confirmed radiographically. However, the calcaneal pitch was not improved significantly after surgery. Peak dorsiflexion of the ankle during the stance phase was increased after surgery, and the peak plantarflexion at push off was decreased. The peak ankle plantar flexion moment and power were also decreased. Postoperative elevation of the medial longitudinal arch was expressed as a decreased relative vertical impulse of the medial midfoot and an increased relative vertical impulse (RVI) of the lateral midfoot. However, the lower than normal RVI of the 1st and 2nd metatarsal head after surgery suggested uncorrected forefoot supination. The anteroposterior and lateral paths of the center of pressure were improved postoperatively. CONCLUSIONS: Our experience suggests that the index operation reliably corrects the hindfoot valgus in patients with spastic diplegia. Although the operation corrects the plantar flexion of the talus, it does not necessarily correct the plantarflexed calcaneus and forefoot supination. However, these findings are short-term and longer term observations will be needed.

Risk factors of heterotopic ossification in traumatic spinal cord injury / Fatores de risco da ossificação heterotópica na lesão medular traumática

OBJECTIVE: Heterotopic ossification (HO) is a complication of the spinal cord injury (SCI). It can result in anchylosis, harming the rehabilitation and quality of life. Previous publications had not elucidated the relation between possible independent variables, the aim of this study. METHOD: From 230 patients with SCI, admitted in 1998 at Hospital SARAH Brasilia, 33 with HO (14.3 percent; CI95 percent 10.1-19.6) were compared with 33 controls. The risk factors had been tested in bivariate analysis and in a model of logistic regression. RESULTS: Spasticity (odds ratio=3.8; CI95 percent 1.15-12.30), number of pressure ulcers (2.1; CI95 percent 1.08-3.89) and time lapsed since the injury (1.1; CI95 percent 1.02-1.24) were independently associated with HO. There was a confounder effect among these variables, without interaction. CONCLUSION: Spasticity, pressure ulcer and time of injury are associated with HO in spinal cord injury. The first two factors can be prevented and treatable.

OBJETIVO: A ossificação heterotópica (OH) é uma complicação da lesão medular traumática (LMT). Pode resultar em anquilose, prejudicando a reabilitação e a qualidade de vida. Estudos prévios não elucidaram a relação entre as potenciais variáveis independentes, propósito desse estudo. MÉTODO: De 230 pacientes com LMT, admitidos em 1998 no Hospital SARAH Brasília, 33 tiveram o diagnóstico de OH (14,4 por cento; IC95 por cento 10,1-19,6), que foram comparados a 33 controles. Os fatores de risco foram testados de forma bivariada e num modelo de regressão logística. RESULTADOS: Espasticidade (razão de chances 3,8; IC95 por cento 1,15-12,30), número de escaras (2,1; 1,08-3,89) e tempo de lesão (1,1; 1,02-1,24) encontraram-se associadas, de forma independente, à presença de OH. Havia um efeito confundidor entre essas variáveis, porém sem interação. CONCLUSÃO: Espasticidade, escaras e tempo de lesão estão associados à OH na lesão medular traumática. Os dois primeiros são passíveis de prevenção e tratamento.

new simple operation for the correction of spastic entropion

A description of a new and simple surgical technique for the treatment of spastic entropion was described. The operation was tried in 21 cases with very good results. A rapid review of operations for spastic entropion was given

Respiratory complication in tetanus.

Six hundred cases of tetanus were studied to find out incidence of respiratory complications and to evaluate factors predisposing such complications in tetanus. The incidence of complications was 41 per cent. Infants, patients of more than 40 years of age, smokers, cases with grossly contaminated injuries, short incubation period and short period of onset were more vulnerable. Patients with dysphagia, spasm, associated respiratory diseases and the patients in higher grades were also found to be more susceptible to respiratory complications.