Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of neurofibromatosis involving the larynx is added to the 19 previously reported cases; furthermore, it represents the only reported case of plexiform ganglioneurofibroma of the larynx in Von Recklinghausen's disease. The reported cases of neurofibromatosis with laryngeal involvement in the world literature are discussed and summarized. The main clinical symptoms are dyspnea, dysphonia and dysphagia which occasionally require tracheotomy when the condition is recognized. Elective surgical excision is the treatment of choice.
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PMID:Laryngeal involvement in Von Recklinghausen's disease: a case report and review of the literature. 40 21

A case of familial multiple neurofibromatosis with laryngeal involvement is described. The patient required surgical treatment because of rapid tumour growth associated with dyspnoea, dysphonia and dysphagia. Whereas the extensive growth prevented entire removal of all tumour lumps, endolaryngeal microsurgery resulted in an important improvement of laryngeal symptoms and of the quality of life.
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PMID:[Laryngeal obstruction due to familial Recklinghausen's disease]. 190 32

A case of neurofibroma of the larynx occurring in generalized neurofibromatosis (von Recklinghausen's disease) is presented, and the previously reported pediatric cases are reviewed. Laryngeal involvement in neurofibromatosis is rare and the predominant signs and symptoms include dyspnea, stridor, loss or change of voice and dysphagia. Problems posed related to diagnosis, management and course of this infrequent laryngeal localization are discussed.
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PMID:Laryngeal involvement in pediatric neurofibromatosis: a case report and review of the literature. 866 67

A series of reports in the literature suggest an association of neurofibromatosis Recklinghausen with intestinal tumors as carcinoids, leiomyomas and leiomyosarcomas. We present a case of a 23-year-old man with severe cutaneous manifestation of neurofibromatosis. Dysphagia was the main symptom. CT scan suggested the diagnosis of an oesophageal leiomyoma. The oesophageal muscle layers were split and the tumor was enucleated by video assisted thoracoscopic surgery (VATS). The postoperative course was uneventful. The patient was drinking liquids from day 1 and was eating a normal diet from day 3 postoperatively. He was dismissed from the hospital on the 4th postoperative day. We conclude that in patients with neurofibromatosis and oesophageal symptoms an intestinal manifestation of the disease in the oesophagus has to be considered and that VATS resection of intramural and extrinsic oesophageal leiomyomas is the treatment of choice.
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PMID:VATS resection of an oesophageal leiomyoma in a patient with neurofibromatosis Recklinghausen. 964 51

We present a case of a laryngeal neurinoma in a patient with neurofibromatosis 2. A 39-year-old man presented to our hospital with multiple complaints including progressive bilateral hearing loss, dizziness, dyspnea, dysphagia, and a 9-year history of right lower leg weakness. Magnetic resonance imaging demonstrated multiple lesions including bilateral cerebellopontine angle tumors, a foremen magnum tumor, multiple tumors of the spinal cord, a laryngeal tumor, and several retrocervical tumors. Fiberoptic laryngoscopy revealed a large submucosal supraglottic tumor. The laryngeal tumor was visualized through microlaryngoscopy and excised with a KTP laser directed through a quartz fiber.
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PMID:A case of laryngeal neurinoma with neurofibromatosis 2. 1007 63

The authors report an extremely rare case of neurofibromatosis Type 1 (NF1) with a suboccipital meningocele presenting as a huge retropharyngeal mass. A 73-year-old woman with typical cutaneous manifestations of NF1 presented with nasal obstruction and dysphagia due to a retropharyngeal mass. Magnetic resonance imaging revealed a huge mass lesion extending from the right occipital bone defect to the retropharynx through the right paravertebral region. Computerized tomography scanning after intrathecal administration of contrast material confirmed that the mass was a meningocele protruding through a right occipital bone defect. The authors attempted to ligate this meningocele, most of which was excised via a suboccipital approach, but a second transcervical operation was required. Finally, the meningocele resolved and the patient was discharged without symptoms.
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PMID:Suboccipital meningocele presenting as a huge retropharyngeal mass in a patient with neurofibromatosis Type 1. Case report. 1047 Aug 29

Plexiform neurofibromatosis is a autosomal dominant disease characterized by multiple cafe aulait spots, cutaneous neurofibromatosis, CMS tumours and skeletal abnormalities. We report a child with plexiform neurofibromatosis presenting with dysphagia, an unsual presentation.
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PMID:Plexiform neurofibromatosis presenting as dysphagia. 2312 Feb 80

Gastrointestinal stromal tumors (GIST) are the most common mesenchymatous neoplasms of the human digestive tract. They locate preferentially in stomach, duodenum or small bowel. Usually sporadic, familial cases unrelated to neurofibromatosis may be due to germline mutations in KIT or PDGFRA. We describe the first Argentine family with GIST in which we found, diffuse cutaneous melanosis, lentiginosis, and dysphagia. Dysphagia was not observed in the four families previously described with the same mutation. Histopathology resulted consistent with GIST, and tumor immunohistochemistry was likewise positive for DOG-1, CD117 (KIT) and CD34. The search for germline mutations identified the KIT c.1697T > C (p.559V > A) substitution in exon 11. Treatment with imatinib is furnishing positive results.
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PMID:Dysphagia, melanosis, gastrointestinal stromal tumors and a germinal mutation of the KIT gene in an Argentine family. 2484 23

A 22-year-old female, a known case of neurofibromatosis 1 (NF1), presented with a congenital swelling in the left occipital region. She had developed recent onset dysphagia and localized occipital headache. Neuroradiology revealed a left occipital meningoencephalocele and a left parapharyngeal meningocele. This was associated with ventriculomegaly. She was advised on cranioplasty along with duraplasty which she denied. She agreed to a lumbar-peritoneal shunt. She described a dramatic improvement in her symptoms following the lumbar-peritoneal shunt. Occipital dysplasias, though uncommon, have been reported in the literature. We review this case and its management and discuss relevant literature on occipital dysplasias in NF1.
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PMID:Brain Herniation in Neurofibromatosis with Dysplasia of Occipital Bone and Posterior Skull Base. 2660 Sep 57

Primary salivary gland peripheral nerve sheath tumors (PNST) are uncommon. This study is a retrospective, clinicopathologic review of 9 cases of PNST (5 neurofibromas, 3 schwannomas and 1 malignant peripheral nerve sheath tumor (MPNST)) arising from the salivary glands, encountered between 1990 and 2015. All patients with neurofibromas were male (ages 1-62 years) and had a single parotid lesion of which 2 were diffuse, 2 plexiform and one mixed diffuse/plexiform. Four had a history of neurofibromatosis I. Four of 5 presented with symptoms related to mass effect including facial swelling, facial drooping, and dysphagia. All underwent de-bulking surgery and recurred due to continued growth. Of the 3 patients with schwannomas, 1 was male and 2 were female (ages 19, 44 and 56 years). One tumor each arose in the sublingual, submandibular, and parotid glands. Two of 3 presented with soreness and swelling local to the affected gland, especially while chewing. There was no recurrence of these tumors after resection. An MPNST in a male presented as a tender mass in the patient's left parotid; the tumor was resected. There was no evidence of tumor elsewhere in the body. The tumor did not recur in 12 years of follow-up. The most common tumor type in the current series was neurofibroma; most arose in the background of neurofibromatosis type I and all of which recurred after initial subtotal resection. Most PNST arose in the parotid gland.
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PMID:Peripheral nerve sheath tumors arising in salivary glands: A clinicopathologic study. 2740 23


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