Ectasia dural e hipotensión endocraneal en síndrome de Marfán / Dural ectasia and intracranial hypotension in Marfan syndrome

INTRODUCCIÓN: El síndrome de Marfán es un trastorno multisistémico del tejido conectivo de herencia autosómica dominante, de expresión variable. La ectasia dural es un compromiso frecuente, pero poco conocido, que puede asociarse a síndrome de hipotensión endocraneana (SHE). OBJETIVO: Pre sentar un caso de cefalea invalidante secundario a SHE, para advertir de esta rara complicación, que debe tenerse presente en niños portadores de conectivopatías, en especial síndrome de Marfán. CASO CLÍNICO: Adolescente femenina de 13 años, portadora de sindrome de Marfán, de diagnóstico clínico según criterios de Ghent 2010, que consultó por cefalea ortostatica invalidante de 6 meses de evolución. La Resonancia Magnetica (RM) de cerebro mostró múltiples signos de hipotensión endocraneana, mientras que la RM de columna total mostró una ectasia dural que determinó la dilatación del saco tecal y remodelación posterior de los cuerpos vertebrales, especialmente a nivel del sacro. Se realizó tratamiento con parche sanguíneo autólogo epidural con buena respuesta clínica. CONCLUSIONES: La ectasia dural, frecuente en el sindrome de Marfán, es una causa predisponente a fuga de líquido cefaloraquideo (LCR), que podría causar cefalea ortostática segundaria al SHE.

INTRODUCTION: Marfan syndrome is an autosomal dominant, multi-systemic connective tissue di sorder of different presentations. Dural ectasia is a common, but little known complication that can be associated with intracranial hypotension syndrome (IHS). OBJECTIVE: To present a case of severe headache secondary to IHS in order to warn about this rare complication, which must be considered in children carriers of connective tissue diseases, especially Marfan syndrome. CLINICAL CASE: 13-year- old female carrier of Marfan syndrome, clinically diagnosed according to the 2010 Ghent criteria, who consulted due to a 6-months history of severe orthostatic headache. Head magnetic resonance imaging (MRI) showed multiple signs of intracranial hypotension, while whole-spine MRI showed dural ectasia that caused the thecal sac dilation and subsequent remodeling of vertebral bodies, es pecially the sacral ones. Treatment with an autologous epidural blood patch was administered with good clinical response. CONCLUSIONS: Dural ectasia, frequent in Marfan syndrome, is a predisposing cause of cerebrospinal fluid (CSF) leakage, which could cause orthostatic headache secondary to IHS.

Meningocele sacro anterior que simula quiste de ovario tabicado / Anterior sacral meningocele simulating ovarian cyst baffled

El meningocele sacro anterior es una rara anomalía genética asociada a enfermedades del tejido conectivo como el síndrome de Marfán, síndrome de Loeys-Dietz, la neurofibromatosis tipo 1 y otras. El objetivo del presente trabajo es presentar el caso de un feto con meningocele sacro anterior, inicialmente diagnosticado como un gran quiste de ovario multilobulado, en una paciente con diagnóstico de síndrome de Marfan. Se trata de una herniación del saco dural, a través de agujeros sacros amplios y deformados por ectasia dural, ocupada mayormente por líquido cefalorraquídeo. La punción de estas estructuras o su rotura en el acto operatorio se ha asociado a complicaciones graves e incluso la muerte(AU)

The anterior sacral meningocele is a rare genetic anomaly associated with connective tissue diseases such as Marfan syndrome, Loeys-Dietz syndrome, neurofibromatosis type 1 and others. The aim of this paper is to present the case of a fetus with anterior sacral meningocele, initially diagnosed as a large multilobulated ovarian cyst in a patient diagnosed with Marfan syndrome It is a herniation of the dural sac, through large sacral foramina, and deformed by dural ectasia, occupying mostly by cerebrospinal fluid. Puncture or rupture these structures during surgery has been associated with serious complications and even death(AU)

Cauda Equina Syndrome Associated with Dural Ectasia in Chronic Anlylosing Spondylitis

Cauda equina syndrome (CES) associated with dural ectasia is a rare neurologic complication in patients with longstanding ankylosing spondylitis (AS). We report a 68-year-old male with a 30-year history of AS who presented a typical symptom and signs of progressive CES, urinary incontinence and neuropathic pain of the lumbosacral radiculopathy. Computed tomography (CT) and magnetic resonance imaging (MRI) findings showed the unique appearances of dural ectasia, multiple dural diverticula, erosion of posterior element of the lumbar spine, tethering of the conus medullaris and adhesion of the lumbosacral nerve roots to the posterior aspect of the dural ectasia. Considering the progressive worsening of the clinical signs, detethering of the conus medullaris through resection of the filum terminale was performed through a limited laminectomy. However, the urinary incontinence did not improve and there was a partial relief of the neuropathic leg pain only. The possible pathogenetic mechanism of CES-AS and the dural ectasia in this patient with longstanding AS are discussed with a literature review.