Cases reported "Neurofibromatosis 1"

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1/203. E.N.T. manifestations of Von Recklinghausen's disease.

    Von Recklinghausen's disease (VRD) is a neurocutaneous, systemic disease characterized by CNS tumors and disorders, cafe-au-lait spots, generalized cutaneous neurofibromata, skeletal deformities, and somatic and endocrine abnormalities. It is an autosomal dominant, hereditary disorder found in approximately 1:2500 to 3300 births. There are many manifestations of this disease in the head and neck region of interest to the otolaryngologist. case reports of three patients with multiple ENT involvements are detailed. A review of the literature is presented with a brief discussion of diagnosis and treatment. The most common intracranial tumor in the adult is the acoustic neuroma, usually bilateral, while in the child it is the astrocytoma. A defect in the sphenoid bone is common and may produce temporal lobe herniation into the orbit causing pulsatile exophthalmos. Involvement of the facial bones usually causes radiolucent defects secondary to neurofibromata within nerve pathways, and a variety of asymmetrical changes, especially within the mandible. "elephantiasis" of the face is a hypertrophy of the soft tissues overlying a neurofibroma, often quite extensive and disfiguring. Laryngeal and neck involvement may compromise the airway and early and repeated surgical intervention is required. The over-all malignancy rate approaches 30%, indicating that the patient with VRD may be predisposed to developing a malignancy. There appears to be an increased surgical risk in these patients, with some demonstrating abnormal responses to neuromuscular blockade.
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2/203. Spontaneous partial regression of low-grade glioma in children with neurofibromatosis-1: a real possibility.

    At the age of 41 and 31 months, respectively, a boy and a girl affected by neurofibromatosis-1 were diagnosed with a visual pathway glioma during surveillance contrast-enhanced head magnetic resonance imaging (MRI). In the first child, the initial MRI showed that the entire optic chiasm, the intracranial tract of the left optic nerve, and hypothalamus were grossly enlarged and enhanced in the post-gadolinium T1-weighted images. Ten months later, the hypothalamic component of the lesion had regressed markedly and there were no more areas of contrast enhancement. In the second child, the initial MRI showed that the optic chiasm, the right optic tract, and geniculate body were enlarged and enhanced after gadolinium injection. At 6-month follow-up, the MRI showed that the right optic tract and the anterior aspect of the optic chiasm decreased in size and the contrast enhancement of the entire lesion was reduced dramatically. These findings, as indicated by other similar reports, confirm that spontaneous regression of visual pathway glioma is a rare but real possibility in children with neurofibromatosis-1. Therefore, clinicians need to be aware of visual pathway glioma's erratic behavior in children with neurofibromatosis-1 with special attention given to the importance of a very conservative attitude toward any type of treatment for such patients.
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3/203. Malignant peripheral nerve sheath tumour in the maxilla associated with von Recklinghausen's disease.

    Malignant transformation of neurofibromatosis is one of the most serious complications of von Recklinghausen's disease (VRD). The most common associated malignancy is the malignant peripheral nerve sheath tumour (MPNST). Few cases of MPNST associated with VRD in the maxillary region have been reported. This report describes a rare case of MPNST in the maxilla and the aggressive nature of MPNST associated with VRD.
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4/203. Malignant schwannoma of the stomach in a patient with von Recklinghausen's disease.

    A patient with von Recklinghausen's disease died with a malignant schwannoma of the stomach and was found at autopsy to have neurofibromatosis of the gastrointestinal tract, a plexiform neurofibroma of the myocardium and a phaechromocytoma. Malignancy of the gastrointestinal tract in von Recklinghausen's disease is rare, and this case highlights the difficulties in histological diagnosis of malignant nerve sheath tumours.
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5/203. Bilateral diaphragm paralysis secondary to central von Recklinghausen's disease.

    Bilateral paralysis of the diaphragm is either idiopathic or associated with several medical conditions, including trauma or thoracic surgery, viral infections, and neurologic congenital or degenerative disorders. We describe the case of a 36-year-old man with a history of neurofibromatosis who developed severe bilateral diaphragmatic paralysis from involvement of the phrenic nerve roots with neurofibromas. The patient manifested progressive exertional dyspnea and debilitating orthopnea requiring the use of noninvasive mechanical ventilation at night. A review of the literature reveals that neurofibromatosis is an unrecognized cause of diaphragmatic paralysis.
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6/203. association between cutaneous melanoma and neurofibromatosis type 1: analysis of three clinical cases and review of the literature.

    The authors report a rare association between cutaneous melanoma and Von Recklinghausen's disease (NF-1) and analyze the possible meaning of this occurrence. Various types of tumors have been associated with NF-1, in particular those of neuroectodermal origin, such as malignant peripheral nerve sheath tumors (MPNST) and phaeochromocytoma. The development of malignant melanoma in NF-1 patients is rare. Data from the literature is enable to demonstrate an increased incidence of cutaneous melanoma in patients with neurofibromatosis but the association of these two disorders seems reasonable in theory, as both are abnormalities of a neural crest origin. The cases described may represent not only a clinical report of two rarely associated disorders, but may also confirm the biological mechanisms responsible for these infrequent diseases.
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7/203. Functional nerve growth factor receptor in von Recklinghausen neurofibromatosis: an immunocytochemical and short-term culture study.

    Immunocytochemistry reveals 75 kDa low affinity type nerve growth factor receptor (NGFR) on the cell membrane of human neurofibroma cells of von Recklinghausen disease in vivo and in vitro. NGF-immunoreactivity is detected in the primary and cultured tumor cells. Growth augmentation of cultured neurofibroma cells by exogenous NGF is also confirmed. phosphotyrosine-immunoreactivity is demonstrated by immunocytochemistry in the in vivo and in vitro neurofibroma cells suggesting possible phosphorylation of tyrosine residue in the NGFR or a cellular protein downstream of signal transduction through the ligand receptor system. These results indicate human neurofibroma cells possess functional NGFR and the growth is potentiated through the NGF-NGFR system in the paracrine and/or autocrine fashion.
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8/203. Intraventricular malignant triton tumour.

    The authors present the clinical and pathological features of a malignant triton tumour (MTT) in the lateral ventricle with neurofibromatosis type 1. A 57 year-old man presented with disorientation and memory disturbance. A Computed tomographic scan and magnetic resonance imaging studies revealed an enhancing lesion in the left lateral ventricle. A parieto-occipital transcallosal approach was taken and resection of the lesion was performed. The operative findings suggested that the tumour arose from the perivascular nerves. The final pathological diagnosis was a MTT. This is the first case of an intraventricular MTT. Aggressive treatment including radical surgery combined with radiochemotherapy is recommended for a MTT of the central nervous system.
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9/203. Multiple coronary artery aneurysms in a child with neurofibromatosis type 1.

    A number of frequently unrecognised vascular manifestations have been described in patients with neurofibromatosis type 1 (NF1), including involvement of the great vessels, cerebral, visceral and renal arteries. Rarely, changes in the coronary arteries have been reported in adults with NF1. We report on a 16-year-old boy affected by NF1 with dysmorphic features and three aneurysms in the mid-portion of the left descending coronary artery disclosed by chance during investigation for a malignant peripheral nerve sheath tumour. Molecular analysis detected a gross de novo deletion in the NF1 gene. The boy had had no previous cardiac symptoms but died suddenly after developing signs and symptoms suggestive of myocardial infarction. CONCLUSION: To the best of our knowledge, this represents the first report of multiple lesions in the coronary arteries in a child affected by neurofibromatosis type 1 with a known deletion of the neurofibromatosis type 1 gene.
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10/203. An unusual pterygopalatine meningocele associated with neurofibromatosis type 1. Case report.

    The authors describe an unusual meningocele of the lateral wall of the cavernous sinus and the anterior skull base in a young patient with typical stigmata of neurofibromatosis Type 1 (NF1). This lesion was discovered during evaluation for recurrent meningitis. It represented an anterior continuation of Meckel's cave into a large cerebrospinal fluid space within the lateral wall of the cavernous sinus, extending extracranially through an enlarged superior orbital fissure into the pterygopalatine fossa adjacent to the nasal cavity. It was successfully obliterated, via an intradural middle fossa approach, with fat packing and fenestration into the subarachnoid space. This meningocele most likely represents a variant of cranial nerve dural ectasia occasionally seen in individuals with NF1. It has as its basis the same mesodermal defect responsible for the more common sphenoid wing dysplasia and spinal dural ectasias identified with this condition. Involvement of the trigeminal nerve with expansion of the lateral wall of cavernous sinus has not been reported previously. The authors surmise, however, that it may be present in some cases of orbital meningocele associated with sphenoid wing dysplasia.
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