|Year : 2015 | Volume
| Issue : 1 | Page : 23-26
Case of von Recklinghausen's neurofibromatosis with esophageal neurofibroma
Shreyas R Somnath, Sanjay M Desai, Suvadip Chakrabarti, Sanjay Sharma
Department of Surgical Oncology, Sri Aurobindo Medical College and PG Institute, Indore, Madhya Pradesh, India
|Date of Web Publication||23-Mar-2015|
Shreyas R Somnath
Department of Surgical Oncology, Sri Aurobindo Medical College and PG Institute, Indore, Madhya Pradesh
Source of Support: None, Conflict of Interest: None
Neurofibromatosis (NF) is a term that has been applied to a variety of related syndromes, characterized by neuroectodermal tumors arising within multiple organs and autosomal-dominant inheritance. NF-1, known as well as Recklinghausen's disease, is the most common type of the disease accounting 90% of the cases. A case of 50-year-old patient with NF is presented with a mass in the left side of the neck since 1-year and progressive dysphagia since 6 months worse for solids than liquids. Intraoperatively a large solid mass was found occupying the left side of the neck pushing the trachea and esophagus to the right side, infiltrating a portion of the wall of esophagus. The mass was resected en bloc along with a portion of the wall of esophagus, and primary esophageal repair was done. Histology revealed plexiform neurofibroma.
Keywords: Esophageal neurofibroma, neurofibromatosis, neurofibromatosis type 1 von Recklinghausen′s disease
|How to cite this article:|
Somnath SR, Desai SM, Chakrabarti S, Sharma S. Case of von Recklinghausen's neurofibromatosis with esophageal neurofibroma. Saudi Surg J 2015;3:23-6
|How to cite this URL:|
Somnath SR, Desai SM, Chakrabarti S, Sharma S. Case of von Recklinghausen's neurofibromatosis with esophageal neurofibroma. Saudi Surg J [serial online] 2015 [cited 2022 Dec 3];3:23-6. Available from: https://www.saudisurgj.org/text.asp?2015/3/1/23/153804
| Introduction|| |
Neurofibromatosis (NF) is a term that has been applied to a variety of related syndromes, characterized by neuroectodermal tumors arising within multiple organs and autosomal-dominant inheritance. At least 8 different clinical phenotypes of NF have been identified and are linked to at least two genetic disorders. NF-1 is the most common type of the disease accounting 90% of the cases and is characterized by multiple cafι-au-lait spots and the occurrence of neurofibromas along peripheral nerves. Hereby, describing a case of NF-1, who had a large mass in the left side of the neck infiltrating into the esophagus.
| Case Report|| |
A 50-year-old male presented to the Department of Surgical Oncology with gradually progressive painless swelling in the neck and was advised evaluation. However, he was lost to follow-up and presented 6 months later with difficulty in breathing and swallowing (worse for solids than liquids). Patient was a diagnosed case of NF.
A tru-cut biopsy of the left neck mass was done which gave a diagnosis of neurofibroma. He underwent emergency tracheostomy for stridor while under evaluation. Ophthalmic and neurological evaluation was within normal limits. Dermatological examination findings are multiple soft cutaneous neurofibromas all over the body ranging from few millimeters to several centimeters and multiple cafι-au-lait spots [[Figure 1]].
|Figure 1: Clinical picture of the patient showing multiple cutaneous neurofibromas|
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Magnetic resonance imaging of the neck shows a heterogeneous, moderately enhancing, lobulated irregular, soft tissue mass lesion measuring approximately 8 cm × 8 cm × 6 cm. Cranially it was extending up to the carotid bifurcation level and causing indentation on laryngeal lumen. Laterally there is an extension in both carotid artery and internal jugular vein. Inferiorly there is retrosternal extension of the disease along the trachea-esophageal groove up to aortic arch level. Moderate compression of upper 1/3 of esophagus noted [Figure 2] and [Figure 3].
|Figure 2: Computed tomography image showing soft tissue mass on the left side of neck, compressing esophagus and trachea|
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After all routine preoperative workup patient was taken up for surgery. Patient was explored through a hockey stick incision along the anterior border of left sternocleidomastoid muscle (SCM). After raising the skin flaps, left side SCM was divided, strap muscles were retracted. Mass was found occupying the entire left side of the neck with encroachment into the tracheo-esophageal groove on the left [[Figure 4]]. Great vessels on the left and left vagus nerve were dissected free from the mass. Trachea was found to be free from the mass. However, the mass was infiltrating a portion of pharyngeal wall and esophagus which was resected en bloc, and the resultant defect closed primarily in double layers over Ryle's tube [[Figure 5]].
|Figure 5: Intraoperative picture showing Ryle's tube in the esophagus after resection of the mass along with anterior wall of esophagus|
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Immediate postoperative period was uneventful. Patient was started on Ryle's tube feeds on 3 rd postoperative day tracheostomy was closed on the 4 th postoperative day, with no difficulty in breathing. A barium swallow was done on 10 th day, which did not show any leak. Patient was started oral feeds gradually, which he tolerated and then patient was discharged.
The histopathology report showed the mass was composed of spindle to wavy fibers forming sheets, bands. A dense mixed inflammatory cell infiltrate with foamy macrophages is seen. Submucousa from the esophageal wall showing fibrotic thickening with chronic inflammatory cell infiltrate. Impression given was benign plexiform neurofibroma infiltrating into segment of esophagus.
| Discussion|| |
Manifestations of NF have been observed for a long time before being described by Robert William Smith in 1849.  The classic description is by a German pathologist, von Recklinghausen, who accurately described the diverse findings as a single entity in 1882;  thus the condition is often referred to as von Recklinghausen's disease. The NF comprise of at least two separate genetic disorders (NF-1 and NF-2) characterized by the formation of tumors surrounding nerves and a variety of other pathological features. The most common type (NF-1) accounting for 90% of cases, is characterized by multiple cafe-au-lait spots and the occurrence of neurofibromas along peripheral nerves. Other clinical features include Lisch's nodules (melanocytic pigmented iris hamartomas) and oral lesions. Possible complications in childhood include the development of an optic glioma, endocrine disturbances and involvement of the lower urinary tract. The children may also present with learning disabilities.
Von Recklinghausen's NF-1 is inherited in an autosomal-dominant fashion and has a prevalence of between 1/3000 and 1/5000 live births , thus being one of the most common autosomal dominant conditions in humans.
According to the National Institute of Health Consensus Development Conference 6,  at least two of the following criteria must be present to make the diagnosis of NF-1:
Peripheral neurofibromas are benign tumors consisting predominately of Schwann's cells and fibroblasts with endothelial, perineural, and mast cells.  Plexiform neurofibromas occur in about one-third of NF-1 cases, most commonly on the trunk and less often on the limbs, head and neck. Although clinical findings are primarily Neurocutaneous in nature, any organ system can be involved. The diagnosis requires six or more cafe-au-lait spots, each larger than 1.5 cm in diameter. Axillary freckling is also highly suggestive of the diagnosis. , Areas of hypopigmentation or hyperpigmentation can also be seen.
- Five or more cafe-au-lait spots larger than 5 mm in diameter in prepubertal patients; six or more cafe-au-lait spots larger than 15 mm in diameter in postpubertal patients
- Two or more neurofibromas of any type or one plexiform neurofibroma
- Axillary or inguinal freckling
- Optic glioma
- Two or more Lisch's nodules
- A distinctive osseous lesion (pseudoarthrosis of the tibia or sphenoid wing dysplasia)
- A first-degree relative diagnosed with NF-1 in accordance with the above criteria.
Benign neural tumors of the esophagus are exceedingly rare, with approximately 200 cases reported in the literature.  Most of the reported cases of esophageal neural tumors are classiﬁed as granular cell tumors of the esophagus. Conservative management with observation has been recommended unless the mass measures more than 1 cm, or the patient is symptomatic. , A second, smaller group of neural tumors, consisting of either benign schwannomas or neuroﬁbromas as in our patient, has been described. In the few reports of benign esophageal neural tumors of this type, all patients had symptoms on presentation and were found to have large intramural tumors that were completely resected. ,,
| Conclusion|| |
In neck, benign neural tumors can be found in esophagus, which is usually classified as granular cell tumors of the esophagus. However, tumors arising from other neck structures are also known. Neurofibroma can also present as a neck mass with rarely presenting as dysphagia or stridor due to compression. We recommend surgical excision of mass in appropriate clinical setting as mode of treatment.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]