Gene/Protein Disease Symptom Drug Enzyme Compound
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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 20-year-old female with von Recklinghausen's disease became aware of hoarseness and dysphagia with a right neck mass, and received subtotal resection of a jugular foramen neurofibroma. One year later the jugular foramen tumor recurred and pathologic examination at excision showed a malignant transformation. Despite postoperative chemotherapy and radiotherapy, it recurred soon and followed the metastatic cerebral tumor by meningeal dissemination. Malignant nerve sheath tumors of the jugular foramen are very rare and the clinical course and pathological pictures of this tumor are reviewed.
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PMID:Malignant nerve sheath tumor of the jugular foramen followed by meningeal dissemination in a patient with neurofibromatosis. 822 Jul 92

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

We present a rare autopsy case of von Recklinghausen's disease with Moyamoya vessels and arteriovenous malformation. A 58-year-old female patient suffered from dysarthria and dysphagia. On examination, Parkinson's signs, pseudobulbar palsy, and muscular weakness of the left extremity and pyramidal tract signs were observed. An enhanced brain computed tomography revealed abnormal high-density network vessels at the thalamus and midbrain. By cerebral angiography, the following changes were observed; occlusion of the right internal carotid artery at the bifurcation, and abrupt narrowing and occlusion of the left internal carotid artery at the bifurcation and siphon. A lateral vertebral arteriography revealed telangiectasia at the basilar tip. The patient died of pulmonary thromboembolism at age 61. The vessels of the circle of Willis were hypoplastic. The optic nerves, infundibulum and mammillary body were covered with a large number of ectastic vessels. Arteriovenous malformations were observed in the bilateral occipital lobes. Histopathologically, the elastic lamina of Moyamoya vessel was conspicuously wavy and often duplicated or triplicated, and discontinued occasionally. Discontinuity of the elastic lamina of the perforating arteries and circumferential arteries supplied by the middle cerebral artery (MCA), anterior CA (ACA) and posterior CA (PCA), was also occasionally observed. It is likely that the Moyamoya vessels in this patient were compensatorily formed by congenital hypoplasia of the internal artery, MCA, ACA and PCA.
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PMID:Moyamoya disease with concurrent von Recklinghausen's disease and cerebral arteriovenous malformation. 965 50

A 36-year-old man presented with a tumor in the anterior skull base manifesting as headache and visual disturbance. Neurofibromatosis type 1 (NF-1) was identified in early childhood in the patient, and also in his father. Subtotal excision of the tumor was performed, leaving the portion extending outside of the cranium. The histological diagnosis was malignant peripheral nerve sheath tumor. Local radiotherapy was instituted postoperatively. Facial paralysis and dysphagia appeared 7 months after the first operation. Magnetic resonance imaging revealed new lesions in the lateral ventricle and around the brainstem. These tumors were also subtotally excised, but the patient died 10 months after the first operation. The tumor very likely originated from the meningeal branch of the trigeminal nerve. Treatment of such tumors developing inside the cranium should include the widest resection possible, followed by irradiation of the entire neuraxis including the spinal cord to inhibit dissemination through the cerebrospinal fluid. Treatment should be started as quickly as possible if the tumor is associated with NF-1, because of the poor prognosis associated with this condition.
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PMID:Malignant peripheral nerve sheath tumor in the anterior skull base associated with neurofibromatosis type 1--case report. 1495 36

We report the first case of a plexiform neurofibroma of the oesophagus, presenting with dysphagia in a 67-year-old man known to suffer from von Recklinghausen's neurofibromatosis. The clinical symptoms and radiological findings mimicked malignancy, and raised considerable concern. Numerous investigations failed to elucidate the benign nature of the condition. The diagnosis was finally achieved at surgery and the patient was successfully treated by oesophageal resection. Plexiform neurofibromas, though only found in 20-30% of affected individuals are pathognomonic of von Recklinghausen's neurofibromatosis. This report highlights the tendency of plexiform neurofibromas to grow extensively and encase surrounding structures, thereby mimicking a neoplastic process.
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PMID:Plexiform neurofibroma of the oesophagus: a mimicker of malignancy. 1635 84

Dysphagia is a symptom associated with various diseases of the upper gastrointestinal and respiratory tract, and it may be the presenting symptom of numerous tumors of the head and neck. Plexiform neurofibromas (PNFs) are benign tumors of the peripheral nerves and connective tissue, which are usually associated with neurofibromatosis type 1. We present a rare case of a 52-year-old woman presenting with dysphagia and weight loss due to a massive PNF in the subcutaneous adipose tissue of the posterior neck, associated with C1-C2 dislocation, scoliosis of the vertebral column, and 2 meningoceles consistent with the diagnosis of neurofibromatosis type 1. The combination of large PNF and cervical spine dysplasia may cause compression of the upper gastrointestinal tract and chronic progressive dysphagia.
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PMID:Massive plexiform neurofibroma and spinal deformity presenting as dysphagia. 1760 49

We observed a patient with subcutaneous seeding from gliomatosis cerebri with a low-grade histopathology. A 33-year-old woman with neurofibromatosis type 1 presented with progressive headache, diplopia, dysphagia, and a rightward instability. On neurological examination dysarthria, gait ataxia, and left-sided central facial and hypoglossal palsies were determined. MRI of the brain demonstrated diffuse, infiltrative non-enhancing lesions in the pons, both cerebellar hemispheres, the parahippocampal gyrus, and the thalamus. A stereotactic biopsy demonstrated an astrocytoma WHO grade 2. These characteristics confirmed gliomatosis cerebri. Three months later, the patient presented with hydrocephalus and a subcutaneous swelling directly underneath the surgical scar. The subcutaneous swelling was removed and the hydrocephalus was treated by ventriculoperitoneal shunting. Histopathological examination confirmed a subcutaneous manifestation of low-grade oligoastrocytoma. Gliomatosis cerebri with low-grade histology can seed subcutaneously.
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PMID:Subcutaneous tumor seeding after biopsy in gliomatosis cerebri. 2183 41

Gastrointestinal involvement of neurofibromatosis type 1 (NF1, Von Recklinghausen's disease) is generally associated with the upper gastrointestinal tract. Abdominal manifestation of NF1 includes several tumors such as malignant peripheral nerve sheath tumors, gastrointestinal stromal tumors and ampulla of vater tumors. However, colonic involvement in NF1 patients is rare. We report a case of a patient presenting with dysphagia, weight loss, intermittent abdominal pain and constipation caused by a single cecal neurofibroma obstructing the ileocecal valve. Also gastrointestinal involvement of the lower tract should be considered in patients with NF1 presenting with abdominal complaints.
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PMID:Recurrent abdominal complaints caused by a cecal neurofibroma: a case report. 2202 85

Dissecting intramural hematoma of the esophagus (DIHE) is a rare condition in which intramural hemorrhage can lead to submucosal dissection of the esophageal wall. DIHE is generally considered a benign disease, and the only mortality associated with DIHE has been due to operative intervention or to the presence of another underlying, life-threatening condition. We report, however, a case of sudden death due to the spontaneous rupture of a DIHE that occurred in a 32-year-old woman, affected by neurofibromatosis type 1. She was admitted to the local emergency room, presenting a 24-hour history of sudden onset, severe central chest and interscapular pain associated with dysphagia, odynophagia and vomiting. Her condition worsened and proved fatal within a 6-hour period. A complete autopsy was then conducted, showing a complete dissecting intramural hematoma with laceration of the third superior of the esophagus. We can hypothesize that abnormal variations of gastro-esophageal pressure during ingurgitation and during bolus movement could be predisposing factors in the pathogenesis of the dissection. On the other hand angular kyphoscoliosis deformity may have had play a role as precipitating factor while vomiting in the subject's medical history can then be interpreted as the likely activation phenomenon.
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PMID:Sudden death due to a dissecting intramural hematoma of the esophagus (DIHE) in a woman with severe neurofibromatosis-related scoliosis. 2345 41


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