Massive spontaneous hemothorax, giant intrathoracic meningocele, and kyphoscoliosis in neurofibromatosis type 1

Abstract

Neurofibromatosis type 1 (NF-1) is a heterogeneous autosomal dominant disease with an incidence ranging from 1 in 2500 to 1 in 3000. Rare intrathoracic vascular disorders resulting in massive spontaneous hemothorax with fatal consequences may occur in these patients, so also are various types of skeletal dysplasia which may result in dramatic presentations, posing management challenges to the attending physicians. We report the case of a 43-year-old woman with NF-1 who developed spontaneous massive hemothorax and was discovered to have a concurrent giant intrathoracic meningocele and thoracic kyphoscoliosis with severe vertebral dysplastic changes. Surgical treatment via a right thoracotomy with primary repair of the meningocele and spinal fusion with fibula graft resulted in good outcome. This case represents an extreme manifestation of this otherwise indolent disease in clinical practice.

Giant Intrathoracic Meningocele and Breast Cancer in a Neurofibromatosis Type I Patient

“…Scoliosis is prevalent in approximately 10% of NF-1 patients, with involvement most commonly observed in the lower cervical and upper thoracic spine16). Scoliosis can be either idiopathic or dystrophic.…”

Successful surgical treatment of massive spontaneous hemothorax due to intrathoracic secondary degeneration of a neurofibroma from mediastinal involvement of type 1 neurofibromatosis

“…Spontaneous hemothorax in patients with NF1 is very rare, but is usually associated with vascular involvement (2). Hemothorax due to an accompanied mediastinal tumor, such as intrathoracic meningocele, has also been observed in NF1 cases (3,4). Herein, we present a rare case of a successful surgical treatment of a fatal hemothorax caused by intrathoracic cystic hemorrhagic degeneration of a neurofibroma associated with mediastinal involvement of NF1.…”

“…Thoracic involvement of NF1, or von Recklinghausen disease, is related to pulmonary and mediastinal manifestations of this multisystem disorder, which is the most common type of phakomatosis (1,4). Thoracic manifestations are usually related to neurofibromas involving the mediastinum and the chest wall, lateral thoracic meningocele, and vascular involvement (1,3). Other thoracic manifestations include focal thoracic scoliosis, enlarged neural foramina, posterior vertebral scalloping, and characteristic rib abnormalities (1,3).…”

“…Thoracic manifestations are usually related to neurofibromas involving the mediastinum and the chest wall, lateral thoracic meningocele, and vascular involvement (1,3). Other thoracic manifestations include focal thoracic scoliosis, enlarged neural foramina, posterior vertebral scalloping, and characteristic rib abnormalities (1,3). Hemothorax has been reported in patients with NF1 and is usually associated with vasculopathy due to vascular involvement of NF1 (2,3).…”

“…Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by café-au-lait macules, variable neurofibromas, axillary and inguinal freckling, and Lisch nodules in the iris (1). Additionally, various vascular involvement and other manifestations have been reported (1)(2)(3). Spontaneous hemothorax in patients with NF1 is very rare, but is usually associated with vascular involvement (2).…”