neurofibromatosis type 1 ( nf-1 ) is an autosomal dominant disease with an incidence ranging from 1 in 2500 to 1 in 3000 . the disease is clinically heterogeneous and most commonly affects the nervous system , skin , and skeletal tissues . well - defined vascular lesions of small and large vessels also occur with a reported incidence of 3.6% . there are few reports of spontaneous massive hemothorax in nf-1 with mortality as high as 36% . scoliosis affects 10% of nf-1 and is the most common skeletal manifestation of the disease . neurological involvement with severe myelopathy and intrathoracic meningoceles rarely occur and may be either asymptomatic or result in varying degrees of respiratory dysfunction . we report the case of a 43-year - old woman with nf-1 who presented with massive spontaneous hemothorax and was found to have concurrent giant intrathoracic meningocele and thoracic kyphoscoliosis with severe vertebral dysplastic changes . she was treated surgically via a right thoracotomy with primary repair of meningocele and spinal fusion with fibula graft after initial stabilization . a 43-year - old woman with diagnostic features of nf-1 presented at a local hospital with sudden onset of dizziness , progressive breathlessness , and easy fatigability . she was resuscitated with intravenous crystalloids and blood transfusions and transferred to our hospital . at presentation , she was pale , dyspneic , and tachypneic . chest tube was in situ draining altered blood . there was clinical evidence of right - sided massive pleural effusion , which was confirmed subsequently with chest roentgenogram [ figure 1 ] . she had been having low back pain and scoliotic deformity for 15 years , but had never sought any medical advice . the diagnostic features of nf-1 in her included : ( 1 ) multiple caf - au - lait spots , ( 2 ) multiple cutaneous neurofibromas , ( 3 ) lisch nodule on slit - lamp examination , and ( 4 ) positive family history ( daughter ) . there were no motor or sensory deficits and she had no other co - morbidity . she was further evaluated with thoracolumbar plain radiograph , computed tomography , and magnetic resonant imaging . these revealed a kyphoscoliotic deformity involving d10-d12 , thinning of adjacent ribs [ figure 2a and b ] , and a large anterolateral meningocele at d11-d12 level with severe posterior vertebral body scalloping and spinal canal widening at the same level [ figure 3 ] . ( a ) thoracolumbar plain radiograph ; ( b ) chest computed tomography scan she was managed surgically via a right thoracotomy . intraoperative findings included large amount of clotted blood in the pleural cavity and a large meningocele entering into the pleural space through a large lateral defect in the dysplastic vertebral bodies . the meningocele was covered by thickened layer of clotted blood products and surrounded by numerous dysplastic vessels ( arterial and venous ) leading to intercostal vessels . after primary repair of the meningocele , the spine was fused with right lateral strut graft using fibula bone graft from d9 to l1 vertebrae [ figure 4 ] . the postoperative period was uneventful , and patient was symptom - free at the last follow - up 4 years after surgery with evidence of fusion on x - ray . vascular lesions in nf-1 are rare but sometime fatal , with a reported incidence of 2 - 3.6% . spontaneous hemothorax with fatal consequences may arise from bleeding of dysplastic small vessels or rupture of an aneurysm of a major intrathoracic artery . mortality rate of up to 36% and surgical mortality of 33% have been reported from such events . among the intrathoracic vessels , lynn et al . have reported a case of massive spontaneous hemothorax and have summarized 25 previous cases reported in literature . . however , two distinct categories in relation to the diameter of the vessels are defined . direct invasion of large vessels by adjacent tumors such as schwannomas , neurofibromas or neurofibrosarcomas resulting in intimal proliferation , thinning of the media , and fragmentation of elastic tissue , in turn leading to stenosis or aneurysm formation is thought to be responsible . smaller vessels are thought to have a dysplasia in the wall itself , consisting of fibrohyaline thickening of the intima and muscularis which causes stenotic narrowing and subsequent significant weakening of the arterial wall . if the patient is in shock , immediate thoracotomy is required to control the intrathoracic hemorrhage after initial resuscitation . for a patient who is hemodynamically stable , an initial angiography to reveal the ruptured vessel and subsequent percutaneous embolization or coiling of aneurysms has shown superior outcome to surgery . although successful conservative treatment has been reported , the treatment modality suffers from limitations such as reported incidences of rebleeding and mortality in patients treated nonoperatively . intrathoracic meningocele in association with nf-1 is another relatively rare condition which was first described in 1933 . a spinal meningocele is a saccular herniation of the meninges through a dilated intervertebral foramen or a defect in the vertebral column . in the thorax , lateral meningoceles are more frequent because the paravertebral muscles are relatively weak and the pressure gradient between cerebrospinal fluid and thorax is high . most patients with anterior meningocele are asymptomatic ; few patents present with back pain , cough , or dyspnea due to compression of the lung and mediastinal structures . surgical intervention is not required in isolated asymptomatic cases of intrathoracic meningoceles , although this case of severe manifestations from a spontaneous hemothorax would support operating on radiologically significant but clinically asymptomatic meningoceles . for symptomatic meningoceles , the treatment depends on the size and can be challenging because of underlying skeletal dysplasia . dystrophic changes including rib penciling , vertebral scalloping , severe apical wedging and rotation , enlargement of the foramina , and paravertebral tumors are also classic abnormalities found in neurofibromatosis . early surgical fusion via an anterior or combined anterior and posterior approach has been advocated to prevent progression and spinal dislocation . in our patient , multiple dysplastic small vessels were identified , but there were no actively bleeding vessels or aneurysms at surgery . hemothorax may have resulted from rupture of any of these dysplastic vessels . although the patient was hemodynamically stable after initial resuscitation , surgery thoracotomy also allowed for excision and repair of the giant meningocele and simultaneous reinforcement of spinal stability by fusion with fibula graft . the fibular graft was used for spinal fusion in order to reinforce the soft dysplastic vertebral bone and hopefully prevent future dislocation and subsequent development of neurological deficit .
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 .