Case Study

Large intrathoracic meningocele in a patient with neurofibromatosis type 1

Asian Cardiovascular & Thoracic Annals 2014, Vol. 22(2) 219–221 ß The Author(s) 2013 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav DOI: 10.1177/0218492312475293 aan.sagepub.com

Tao Zuo, Zhengyi Ni, Mi Zhou, Chaolin Huang, Zhongwen Tang and Zhifeng Yang

Abstract Intrathoracic meningocele associated with neurofibromatosis type 1 is quite rare. We report the case of a Chinese women with a 20-day history of right-sided chest pain and sense of pressure on the chest. Computed tomography and magnetic resonance imaging indicated a homogeneous thin-walled cystic mass in the right rear mediastinum, ranging from the 1st to 5th thoracic segments. Surgery was performed to removal the meningomyelocele pouches and shunt the cyst to the subarachnoid region.

Keywords Cafe-au-lait spots, Meningocele, Nervous system diseases, Nervous system neoplasms, neurofibromatosis 1

Introduction Meningocele is an uncommon pathological entity usually occurring in the lumbosacral portion. Intrathoracic meningocele is regarded as a rare type, frequently associated with neurofibromatosis type 1. Neurofibromatosis 1 (NF-1), previously referred to as von Recklinghausen’s disease, is an autosomal dominant disorder associated with a tumor suppressor gene defect on chromosome 17q11.2, and its incidence is 1 in 3500 persons.1,2 Intrathoracic meningocele associated with NF-1 has rarely been discovered and stands a good chance of being misdiagnosed as a lymph cyst. It has been found to affect the skin without other signs and symptoms when slight; it mainly causes dyspnea and peripheral nervous system when severe. We describe the case of a Chinese women with a large intrathoracic mass associated with NF-1, and discuss the diagnosis and treatment.

diminished right breath sounds were observed, as well as widespread cafe´-au-lait macules and subcutaneous nodules (Figure 1). Chest radiography showed a large lung mass (15  15 cm) and scoliosis. Chest computed tomography and magnetic resonance imaging demonstrated a homogeneous cystic mass with a thin wall in the right rear mediastinum, spanning from the 1st to 7th thoracic segments (Figures 2 and 3). A biopsy of the subcutaneous nodules revealed neurofibromatosis (Figure 4). A mediastinal cyst was the primary diagnosis. An operation was performed under general anesthesia. On opening the chest wall, a cyst was seen to cover the top of chest, adjacent to the descending aorta and spinal cord. The cyst, rooted in the T2 to T3 intervertebral foramen, had a 0.2-cm wall, and the basilar part communicated with the thoracic intervertebral foramen. Part of the cyst membrane was firmly adherent to the right upper lobe, in which multiple small nodular lesions were scattered. Clear fluid was withdrawn by

Case report A 45-year-old Chinese women presented in with a 20day history of right-sided chest pain and a sense of pressure on the chest. She had no other signs or symptoms such as limb numbness, dyspnea, or gait ataxia. There was no history of infection, trauma, tuberculosis, or previous spinal surgery. On physical examination,

Department of Thoracic Surgery, Wuhan Medical Treatment Center, Wuhan, China Corresponding author: Tao Zuo, Department of Thoracic Surgery, Wuhan Medical Treatment Center, 1 Yintan Road, Dongxihu District, Wuhan, Hubei 430023, China. Email: [email protected]

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Figure 1. Disseminated cafe´-au-lait spots and subcutaneous nodules on the back of the patient. Figure 4. The biopsy of subcutaneous nodules revealed neurofibromatosis.

Figure 2. Chest computed tomography showing a homogeneous cystic mass with a thin wall in the right paraspinal space.

Figure 5. Pathologic examination of the resected cyst wall confirmed the diagnosis of an arachnoid cyst.

Figure 3. A large homogenous cystic mass in the right paraspinal space and the neural foramen at the right T1-7 level on chest magnetic resonance imaging.

syringe and confirmed that the cyst was filled with clear cerebrospinal fluid (CSF). Intrathoracic meningocele with spinal cord compression were the further diagnoses. The adhesion with the lung was removed, and the contracted cyst was incised after 50 mL of CSF was withdrawn. The cyst membrane was exposed carefully, preventing further injury, such as damage to the spinal cord within the cyst. We found no nervous structures

passing through the communication stalk. All CSF was suctioned from the cyst after occluding the stalk with a pulmonary vessel clamp. Intracranial hypotension, headache, or cerebral hernia would occur if a large amount of CSF was lost. The meningocele pouch was pulled with sponge forceps. The stalk of cyst was carefully excised with tissue scissors, and the incision was sutured with 3/0 Prolene. The enlarged intervertebral foramen was sutured with a piece of muscle and reinforced with fibrin glue. We used fibrin glue to control bleeding, join tissues together, seal tissue defects, and prevent CSF leakage. After excision and suturing of the cyst, no CSF flow was found. The postoperative course was uneventful. The composition of the cyst and meningocele were similar to that of CSF on conventional and biochemical examination of the cystic fluid postoperatively. Pathologic examination of the resected cyst wall confirmed the diagnosis of an arachnoid cyst (Figure 5). Two weeks after the operation, the patient could walk comfortably, climb stairs without any help, and leave hospital safely.

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Discussion A meningomyelocele commonly starts in the embryonic period as a saccular protrusion of the meninges through a dilated intervertebral foramen or a bony defect of the vertebral column, with or without nerve elements in the sac, and associated with generalized mesenchymal dysplasia such as NF-1.1 Multiple neurofibromatosis, cafe´au-lait macules, and pathological changes of the vascular system and other viscera are common in patients with NF-1. This disease can occur in any part of the body. Nanson4 reported that 70% of intrathoracic meningoceles were associated with NF-1 and scoliosis, and thought they are 3-fold syndrome. Because of the pathological changes protruding into chest, sufferers often have symptom when they grow up. Meningoceles, which are without nerve elements in the sac, are thought to be more common. They should be differentiated from tumors, especially mediastinal tumors that commonly arise from the posterior mediastinum, such as neurofibroma, neuroblastoma, and ganglioneuroma. They are often misdiagnosed as posterior mediastinal cystic hygromas. Multisequence and multiparameter magnetic resonance imaging plays an important role in the diagnosis, and defines the relationship between the cyst and the vertebral canal and nerve root or spinal cord. If imaging show a spaceoccupying lesion in the postmediastinum accompanied by multiple neurofibromatosis, kyphoscoliosis, and expanding of the intervertebral foramen, we should take meningoceles into consideration. The treatment of intrathoracic meningocele ranges from observation to excision. Jeong and colleagues3 recommended regular follow-up with periodic imaging, without surgical treatment when the patient has no signs or symptoms, but surgical treatment is sometimes needed for symptomatic growing lesions.3,5 However, conservative treatment carries the risk of progressive paralysis of the lower limbs, bleeding, and dyspnea.6–9 Simple suction of the cysts usually results in recurrence, and intracranial pressure would be reduced when there is a large amount of cystic fluid loss. The spinal cord or nerve may be damaged by blind puncture. Surgery is the optimal way to treat meningomyelocele. Surgery was performed in this case, with removal of the meningomyelocele pouches and shunting of the cyst to the subarachnoid region. The cyst contents should be carefully assessed before removal. Removing the obstructing mass can reduce the occurrence of neurologic symptoms or prevent the aggravation of

symptoms. We must suture each layer tightly to prevent CSF leakage. Sometimes, removal of a posterior cyst predisposes to unstable postlaminectomy kyphosis and removes valuable bone stock required for posterior spinal fusion.10 A cystoperitoneal shunt is a simple, minimally invasive, and valuable alternative treatment option in patients at high operative risk, especially those with poor respiratory function.8,9 Funding This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.

Conflicts of interest statement None declared.

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Large intrathoracic meningocele in a patient with neurofibromatosis type 1.

Intrathoracic meningocele associated with neurofibromatosis type 1 is quite rare. We report the case of a Chinese women with a 20-day history of right...
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