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1.
Metab Brain Dis ; 32(1): 271-274, 2017 02.
Artículo en Inglés | MEDLINE | ID: mdl-27525430

RESUMEN

Rare metabolic diseases may sometimes arise acutely and endanger human life if not immediately recognized and treated. Marchiafava Bignami disease is an uncommon neurologic disorder described in alcohol abusers and characterized by an acute severe damage of brain white matter. Even more rarely, it has been reported in non-alcohol addicted patients, but never in vegetarian people. This is a case report of a young vegetarian woman, accustomed to drink high amounts of tea, who, three weeks after her first natural childbirth, developed serious motor and cognitive disturbances. A timely brain magnetic resonance (MR) allowed us to identify Marchiafava Bignami disease and she healed few hours after the administration of parenteral steroids and vitamins. We advise to suspect Marchiafava Bignami Disease in all patients presenting with non-obvious acute generalized motor and cognitive disturbances, also if non alcoholics, and to collect the nutritional habits in all patients with suspected symptoms. In these cases a timely brain MRI is warranted, since brain imaging is typical and patients may recover after a prompt treatment.


Asunto(s)
Encéfalo/diagnóstico por imagen , Dieta Vegetariana/efectos adversos , Enfermedad de Marchiafava-Bignami/diagnóstico por imagen , Enfermedad de Marchiafava-Bignami/etiología , Té/efectos adversos , Adulto , Femenino , Humanos , Imagen por Resonancia Magnética , Enfermedad de Marchiafava-Bignami/tratamiento farmacológico , Metilprednisolona/uso terapéutico , Resultado del Tratamiento , Complejo Vitamínico B/uso terapéutico
2.
Childs Nerv Syst ; 29(9): 1657-69, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-24013336

RESUMEN

PURPOSE: Prophylactic surgery is indicated for lipoma of the filum, while it is still debated for the conus lipomas and more complex tethering malformations of the cord. METHODS: We retrospectively reviewed the preoperative and postoperative clinical histories and long-term outcomes of 149 operated patients (33 adults, 116 children). Intraoperative neurophysiological monitoring (NPM) was utilized since 1998. Their malformative lesions were reclassified following recent Pang's embryological criteria for surgical complexity. In nine cases, the spinal tethering malformation was associated with an anorectal malformation (ARM) and in nine with a Chiari I malformation (CM1). RESULTS: One hundred nineteen (80 %) patients were symptomatic at the time of surgery, 66 (44 %) having presented with progressive preoperative deterioration. Postoperative surgery-related deterioration was observed in 6 % of the cases operated on under the intraoperative NPM control. Surgery did not improve any deficit, especially of sphincter functions, independently from the type of associated malformation (ARM, CM1). Urodynamic testing was a reliable predictor both in the preoperative and in the follow-up period of subsequent neurological deterioration. In the long-term follow-up, an increasing percentage of retethering was observed, especially concerning complex cases submitted to partial excision. The surgical risk increased with repeated operations. CONCLUSIONS: This study demonstrates that the rate of the natural deterioration associated with a conservative approach is higher than in patients operated on prophylactically, if the operation is performed by a team with a special expertise. However, the first surgical procedure should be aimed at detethering the conus completely, with the aid of intraoperative NPM; even in expert hands, it is associated with a high risk of clinical deterioration. Based on these results, we are increasing the percentage of children to whom surgery is offered when still asymptomatic as well as the degree of the lipoma excision to prevent retethering. However, in cases of rethetering and subjects presenting in adult age, we suggest to consider for surgery only those symptomatic. Urodynamic testing and magnetic resonance imaging in prone position were, in our experience, the best tools for screening those patients at risk of symptomatic retethering.


Asunto(s)
Monitorización Neurofisiológica Intraoperatoria , Defectos del Tubo Neural/cirugía , Procedimientos Neuroquirúrgicos , Urodinámica , Adolescente , Niño , Progresión de la Enfermedad , Femenino , Humanos , Masculino , Procedimientos Neuroquirúrgicos/efectos adversos , Procedimientos Neuroquirúrgicos/métodos , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/patología , Estudios Retrospectivos , Resultado del Tratamiento , Adulto Joven
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