Plexiform neurofibromatosis presenting as dysphagia - Springer Link

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KEY WORDS : Plexiform neurofibromatosis, dysphagia, Head and Neck tumours. INTRODUCTION. Neurofibromatosis, Von Reckling hausen's disease is a ...

Clinical Reports


KEY WORDS : Plexiform neurofibromatosis, dysphagia, Head and Neck tumours.

INTRODUCTION Neurofibromatosis, Von Reckling hausen's disease is a autosomal dominant disorder occurring once in 2500 to 3300 births with 50% of patients demonstrating affected family members'. The disease is characterized by multiple cafe-au lait spots, generalized cutaneous neurofibromatosis, central nervous system tumours, mental retardation, skeletal abnormalities and a myriad of associated somatic and endocrine abnormalities. It is a nonmetastatizing and locally invasive tumour of schwann cell origin, causing cosmetic and functional deformity in Head and Neck by interfering with the nasal airway, the eyelids, vision, mastication and lip incompetence, in addition to producing a cosmetic deformity. Neurofibromatosis is,a dynamic pathologic process with physical manifestations often present at birth and becoming apparent with age. In one of series, 43% of 46 children manifested physical signs at birth and 63% by one year of age 2 . The malignant change has been reported between 5 to 16 % 1 . The diagnosis is made if there are two or more of the following: Six or more cafe aulait maculas over 15 mm in diameter, two or more neurofibroma of any type of one plexiform neurofibroma, freckling in the axillary or inguinal regions, optic glioma, two or more lisch nodules (iris hamartomas), a distinctive osseous lesion or a first degree relative with VRD 3 . Involvement of larynx and neck may compromise the airway in early childhood. We report a case of plexiform neurofibromatosis presenting as gradually progressing dysphagia with other symptoms and signs. The purpose of this paper is to review the clinical manifestations of neurofibromatosis to emphasize the need for early diagnosis of these deeply situated neurofibromas in early childhood and to define the role of surgery and the management of plexiform neurofibroma of the head and neck.

height of 71.5 cm (Fig. 1). There was pectus excavatum and brownish pigmentation over the neck anteriorly and posteriorly extending to anterior chest wall with thickened and doughy skin. The patient had ill defined mass, 3.5 x 3 cm, with soft to firm consistency, nontender, non-pulsatile, no impulse on coughing in left suboccipital region and nape of neck. There were multiple tiny nodules over left side of neck and fullness in left supraclavicular region. The patient also had isolated cafe aulait spots over back, 4 to 5 in number and two over left leg and one over left arm. On oral examination, there was no lateral or posterior pharyngeal wall bulge. There was hyperpigmentation over the nose also. The abdomen was soft and no mass palpable in abdomen or anywhere else in the body except neck. There was a family history of hyperpigmented spots present over the body of father and sister also. The fine needle aspiration cytology from the neck mass over occipital region reported neurofibromatosis (Fig. 2). The contrast enhanced computerized tomography showed hypodense encapsulated rounded mass present in upper part of neck left side going to oropharynx compressing left vallecula, pyriform sinus, retroparatracheal space, retropharyngeal space, perioesophageal space with compression and extending to left superior mediastinum. Barium swallow study showed compression of thoracic oesophagus and ultrasound neck showed vessels lying anterior to the mass but no encasement of vessels seen.

CASE REPORT A ten months old child was admitted to us with the complaints of increased pigmentation since one and half months of age which began over the neck and gradually spreading over the chest. The patient had decreased intake since three months which progressed gradually with difficulty in swallowing solid food. There was history of vomiting once in three days and constipation since last two months. The patient had recurrent chest infections and failure to thrive since birth. On general physical examination Fig 1:Plexiform Neurofibromatosis

patient was irritable, malnourished, with weight of 5-7.5 kg and

* Associate Professor, ** Senior Resident, Department of Otolaryngology and Head and Neck Surgery, *** Associate Professor, Department of Cytology Postgraduate Institute of Medical Education and Research, Chandigarh Indian Journal

of Otolaryngology and Head and Neck Surgery Vol. 58, No. 2, April-June 2006


Clinical Reports

Fig 2:Plexiform Neurofibromatosis

The patient underwent an excision of the mass in left cervical region under general anaesthesia. A single horizontal incision given parallel and 3 cm above left clavicle and deepened. There was 3.5 x 3.0cm, a well circumscribed, flesh colored, lobulated mass with firm consistency, lying at the level of erb's point deep to left sternocleidomastoid muscle with similar mass 2.5 x 2.0 cm in continuation with main mass extending superomedially into tracheoesophageal groove on left side. There was a thick cord like extension from main tumour mass inferomedially extending deep to manubrium sterni and similar cord like extension inferolaterally going deep to clavicle and continuous with the brachial plexus on left side (Fig. 3). This tumour mass was dissected all around and divided inferomedially at the level of manubrium and brachial plexus. Postoperatively patient had weakness of left arm which improved within one month and dysphagia also improved markedly. Histological examination revealed a plexiform neurofibroma characterized by a tortuous mass composed of faintly eosinophilic, thin, wavy, collagen fibers lying in loosely textured strands that extended in various directions. The patient was asymptomatic on follow up for two years. DISCUSSION

Neurofibromatosis must be considered a chronic, progressive disease first appearing in infancy or childhood. In children, a minimum of 5 cafe aulait spots with a diameter exceeding 0.5 cm and a positive family history should be considered diagnostic, although a definite diagnosis can be made only by histologic examination of a neurofibroma 2 . Our patient also presented with multiple cafe aulait spots, positive family history and presence of neurofibroma as a neck mass. Adkins and Ravitch ° in a combined series presented five children with age group of 3-14 years presenting with neck mass for whom excision of mass was done to improve the dysphagia. The patients had associated axillary, mediastinal, shoulder neurofibroma, with cervical Kyphosis associated. One of the patient had brachial palsy. There are various ENT and head and neck manifestations associated with neurofibromatosis that the ENT surgeons should Indian Journal

Fig 3:Plexiform Neurofibromatosis

be familiar with the diagnosis'. The involvement of cervical region and larynx can lead to dysphagia and difficulty in respiration which should be treated by surgical excision which was done in our case because these lesions involving the neck and larynx may be aggressive and tend to compromise the swallowing and airway respectively, so early surgical intervention is recommended. Unlike schwannoma,, neurofibromas are encapsulated. They occur as soft, raised, subepidermal, nodular lesions and are characterized histologically by proliferating schwann cells, nerve fibers and fibroblasts. Plexiform neurofibromas which are usually deeply seated lesions, have a myxomatous matrix and involve major nerve trunks'. Large tumours in the neck may involve sympathetic or brachial plexuses leading to Homer's syndrome' as in our case there was involvement of brachial plexus. Radical surgery is unnecessary and impossible to perform because of extent of tumour. Conservative surgical excision is recommended to improve the impaired function and cosmesis 1. Crowe FW,Schull WJ and Neel JV. Multiple neurofibromatosis. A clinical, patholgical and genetic study. Charles C. Thomas, Springfield III. 1956. 2. Fienman Norman L, yakovac William C. Neurofibromatosis in childhood. J Pediatr 1976; 76: 339-46. 3. Parry DM. Gene mapping and tumour genetics, neurofibromatosis (Recklinghausen 's disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis): an update. Ann Intern Med 1990; 113: 39-52. 4. Adkins JC, Ravitch MM. The operative management of Vonrecklinghausen's neurofibromatosis in children, with special reference to lesions of the head and neck. Surgery 1977; 82: 342-8. 5. Putney FJ, Moran Jy, Thomas GK Neurogenic tumours of the head and neck. Laryngoscope 1964; 74: 1037-59. 6. Ross DE. Skin manifestations of Von Recklinghausen

of Otolaryngology and Head and Neck Surgery Vol. 58, No. 2, April-June 2006

Clinical Reports disease and associated tumours (neurofibromatosis). Am Surg 1 965; 31: 729-46! 7. White AK, Smith RJH, Bigler CR, Bowke WE Head andneck manifestations of neurofibromatosis. Laryngoscope 1986; 96; 732

Address for Correspondence

Gupta A.K. Associate Professor, Dept. of Otolaryngology and Head and Neck Surgery, PGIMER, Chandigarh- 160012

8. Krueger W, Weisberger E, Ballantyne AJ. Plexiform neurofibroma of head andneck AMJ Surg 1979; 138: 517-


CYSTICERCOSIS OF TONGUE - A CASE REPORT RaviMeher*, Bulbul Gupta**, Sunil Aggarwal* **, JC Passey* ***

KEY WORDS : Cysticercosis, tongue.


A 13-year old male presented to ENT OPD with a. swelling on left lateral border of oral part of tongue for 1 year. The swelling was around lczn 1cm, firm and non-tender. The movement of tongue was normal and there; was no lymphadenopathy:_ FNAC of swelling, showed only blood. An excisional biopsy was done and specimen was sent,for histoiathological examination, which revealed! eysticercosis:. Patient. was then taken up for CT Scan head andlthorough clinical examination to rule out cyslicercocis elsewhere- Stool examination for ova and cyst and blood examination for eosinophilia was with in normal limits. Patient was them given tablet.albendaale 400mg daily for 8 days. Review of personal history revealed that the patient was not a pork eater. ETIO flGYAND

The pork tapeworm (T. solium) can cause two distinct forms of infection. The form that develops depends on whether humans are infected with adult tapeworms in the intestine or with larval forms in the tissues (cysticercosis). Humans are the only definitive hosts for T. solium; pigs are the usual intermediate hosts, although dogs, cats, and sheep may harbor the larval forms. The adult tapeworm generally resides in the upper jejunum. Its globular scolex attaches by both sucking disks and two rows of hooklets. The tapeworm, usually about 3 meters in length, may have as many as 1000 proglottids each of which produces up to 50,000 eggs. Groups of 3 to 5 proglottids generally are released and excreted into the feces, and the eggs in these proglottids are infective for both humans and animals. The eggs survive in the environment for several months After ingestion by the intermediate host (pig), eggs embryonate, penetrate the intestinal wall, and are carried to many tissues via systemic circulation, with a predilection for striated muscle of the neck, tongue, and trunk. Within 60 to 90 days, the encysted larval stage develops. These cysticerci can survive for long periods. Humans acquire

infections that 1.kad to intestine tapeworms by ingesting undercooked pork containing: cysticerci. Infections that cause human cysticerco1killow the ingestion of T solium eggs, usually from- fhea]iy contaminated food. Antoinfection may occur if an individual with an egg-producing tapeworm ingests eggs derived from,hisorrhurowiafeces orif eggpass by reflux from the intestine into,the stomach,. The growing larva in cysticercosis may provoke a series of inflammatory reactions including infiltration of neutrophils and eosinophils, lymphocytes, plasma cells, and at times giant cells, followed by fibrosis and necrosis of capsule with eventual caseation or calcification of the larva. ,

Intestinal infections with T. solium may be asymptomatic. Eigastric discomfort, nausea, a sensation of hunger, weight loss, and diarrhea are infrequent. Human cysticercosis may be seen in brain, meninges, liver, lungs, orbit and peritoneum, however it is rare in tongue muscle. Clinical symptoms vary according to the site of involvement. Dead cysts in brain can swell, causing surrounding nerve tissue reactions and manifests as space occupying lesions with headache, vomiting and seizures. These may be asymptomatic as in case of tongue or cheek. DIAGNOSIS

The diagnosis of intestinal T. solium infection is made by the detection of eggs or proglottids in stool. For cysticercosis, definitive diagnosis requires examination of the cysticercus in an involved tissue, but a diagnosis often can be based on clinical presentation in conjunction with compatible results in radiographic studies, especially computed tomography (CT) and magnetic resonance imaging (MRI) and serologic tests. For soft tissue involvement, plain films may reveal multiple calcified "puffed-rice" lesions.

* senior resident, ** junior resident, *** junior resident, ****professor, Dept. of ENT & Head and Neck Surgery, MAMC and associated, L. N. J. P. 185 Hospital, New Delhi 110002 Indian Journal of Otolaryngology and Head and Neck Surgery Vol. 58, No. 2, April-June 2006

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