Dural Ectasia in Neurofibromatosis 1: Case Series, Management, and Review

Abstract

BACKGROUND The natural history and management of dural ectasia in Neurofibromatosis 1 (NF1) is still largely unknown. Dural ectasias are one of the common clinical manifestations of NF1; however, the treatment options for dural ectasias remain unstudied. OBJECTIVE To investigate the natural history, diagnosis, management, and outcome of the largest case series of patients with NF1-associated dural ectasia to date. METHODS Records from our NF1 clinic were reviewed to identify NF1 patients with computed tomography or magnetic resonance imaging evidence of dural ectasia(s) to determine their clinical course. Demographics, symptoms, radiographic and histopathologic findings, treatment, and clinical course were assessed. RESULTS Thirty-four of 37 patients were managed without surgery. Of the 18 initially asymptomatic patients, 5 (27.8%) progressed to symptoms attributable to a dural ectasia (onset of 2.7% per patient-year). Three patients required surgical intervention because of extraspinal mass effect. All 3 initially improved but had symptom recurrence within 2 yr. Reoperation involved shunt placement for cerebrospinal fluid (CSF) diversion. On imaging review, 26 (76.5%) of the nonsurgical patients harbored an associated nearby plexiform neurofibroma. Pathology of one surgical case revealed dural infiltration by diffuse neurofibroma. CONCLUSION Using the largest NF1-associated dural ectasia group to date, we report the first symptom-onset rate for nonsurgical patients. In the few cases requiring surgery for decompression, primary resection, and patching of ectasias failed, subsequently requiring CSF shunting. We demonstrate imaging evidence of nearby plexiform neurofibroma in a majority of cases, which, when combined with histopathology, provides a novel explanation for the formation of dural ectasias.

Neurofibromatosis type 1, from gene mutation to clinical presentation

“…Gross and fine motor developmental delays are also seen, and macrocephaly is a common feature. Dural ectasia along the spine can result in symptoms such as pain resulting from nerve root compression [21]. Seizures are approximately twice as common in patients with NF1 compared with the general population, with a prevalence of approximately 4 to 6 percent [22].…”

Management of Tarlov cysts: an uncommon but potentially serious spinal column disease—review of the literature and experience with over 1000 referrals

“…Dural ectasias can exist in isolation or be associated with neurofibromatosis [ 19 , 20 ], ankylosing spondylitis [ 21 , 22 ], or heritable connective tissue disorders such as Marfan syndrome (Fig. 2 ) [ 23 – 25 ], Ehlers-Danlos syndrome [ 26 , 27 ], or Loeys-Dietz syndrome [ 28 ].…”

Scalloping Spine in a Patient With Type 1 Neurofibromatosis

“…1 NF1-associated dural ectasia is rarely reported, occurs most frequently in the thoracic region, and treatment remains ill-defined. 2 Considering the extent of her radiologic pathology, our patient had mild symptomatology and was managed conservatively. One should be aware of the association of NF1 and dural ectasia, and that patients may present with a subtle and nonspecific clinical picture.…”