1/26. Spontaneous cerebrospinal fluid (CSF) rhinorrhoea in spongiform dysplasia of the cranium: an unusual presentation of neurofibromatosis.A 20-year-old woman with neurofibromatosis presented with CSF rhinorrhoea. Spongiform dysplasia of the cranium was found. The dysplastic bone contained CSF. The exact site of the CSF fistula into the calvarium and into the paranasal sinuses could not be detected on investigation but nasal packing of the ethmoid and sphenoid sinuses controlled the rhinorrhoea. The unique features of this case are presented along with a brief review of the literature.- - - - - - - - - - ranking = 1keywords = spinal (Clic here for more details about this article) |
2/26. Involution of enhancing intrinsic tectal tumors after endoscopic third ventriculostomy. Report of two cases.For benign intrinsic tectal tumors causing triventricular obstructive hydrocephalus, cerebrospinal fluid diversion followed by neuroimaging is a widely accepted treatment plan. In this report, the authors describe two children with focal enhancing tectal lesions that caused acute, symptomatic hydrocephalus. One child had neurofibromatosis Type 1 (NF1). In both children the hydrocephalus was effectively treated by endoscopic third ventriculostomy. Following this procedure, serial imaging studies revealed not only that the ventriculomegaly had resolved, but also that the enhancing tectal tumors had regressed and disappeared over time. The time to complete involution of these tumors was 18 months for the child with NF1 and 12 months for the other child. To the authors' knowledge, this is the first report of the involution of enhancing tectal tumors after endoscopic third ventriculostomy. The possible mechanisms for this unexpected result are discussed.- - - - - - - - - - ranking = 0.25keywords = spinal (Clic here for more details about this article) |
3/26. Multiple anterolateral cervical meningoceles associated with neurofibromatosis.In neurosurgical practice, the term 'spinal meningocele' is generally used to describe a congenital spinal malformation including protrusion of the spinal meninx from the congenitally dysraphic vertebrae. Although non-dysraphic meningocele is very rare, it is usually associated with neurofibromatosis or Marfan's syndrome in the literature. Thoracic and/or lumbar spinal levels are the most common localization. Anterolateral localization of meningocele is very rare in the cervical region. Operative treatment is indicated if the lesion is symptomatic. Detailed radiological assessment of the meningocele is necessary since it may be associated with neuroma in the sac. If the neuroma is found in the meningocele, an anterior surgical approach should be considered for the treatment of both of the lesions.- - - - - - - - - - ranking = 1keywords = spinal (Clic here for more details about this article) |
4/26. Localized pruritus: a presenting symptom of a spinal cord tumor in a child with features of neurofibromatosis.central nervous system (CNS) and spinal cord tumors are not uncommon in patients with neurofibromatosis (NF); however, it is impossible to select patients with NF who are at a particularly high risk. Localized pruritus may be a clue to the presence of a spinal cord or CNS tumor. This is the first report of an infant with features of NF, whose presenting symptom of a spinal cord tumor was localized symmetrical dermatomal itch. Moreover, we review the literature of localized pruritus in CNS and spinal cord tumors and peripheral nervous system conditions.- - - - - - - - - - ranking = 2keywords = spinal (Clic here for more details about this article) |
5/26. paraparesis after posterior spinal fusion in neurofibromatosis secondary to rib displacement: case report and literature review.In patients with neurofibromatosis, rib displacement into the spinal canal is a rare cause of paraplegia. We report a patient with paraplegia caused by rib displacement whose signs and symptoms began after posterior in situ fusion for dysplastic scoliosis. There was complete recovery after anterior decompression and resection of the rib.- - - - - - - - - - ranking = 2.2476352743455keywords = spinal canal, spinal, canal (Clic here for more details about this article) |
6/26. Segmental neurofibromatosis-induced spinal cord compression. Case report.Spinal segmental neurofibromatosis (NF) is a rare entity. To date, patients in reported cases of segmental NF (or NF5) have harbored neurofibromas involving the peripheral nerves only. The author reports a rare case of segmental NF that caused spinal cord compression in a 40-year-old woman who presented with a 6-month history of intercostal neuralgia. Examination revealed mild lower-extremity weakness and dysesthesia in the right-sided T-9 dermatome. magnetic resonance imaging revealed three neurofibromas involving the T-9 region, which were excised, and the patient's neuralgic pain was resolved postoperatively. Traditionally, it has been believed that segmental NF involved only the peripheral nerves. The present case illustrates that although rare, spinal cord compression can also occur in patients with segmental NF.- - - - - - - - - - ranking = 1.5keywords = spinal (Clic here for more details about this article) |
7/26. Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene.Spinal neurofibromatosis (SNF) is considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors and cafe-au-lait macules. Involvement of the neurofibromatosis type 1 (NF1) locus has been demonstrated, by linkage analysis, for three families with SNF. In one of them, a cosegregating frameshift mutation in exon 46 of the NF1 gene was identified. In the present study, we report four individuals from two families who carry NF1 null mutations that would be expected to cause NF1. Three patients have multiple spinal tumors and no cafe-au-lait macules, and the fourth has no clinical signs of NF1. In the first family, a missense mutation (Leu2067Pro) in NF1 exon 33 was found, and, in the second, a splice-site mutation (IVS31-5A-->G) enlarging exon 32 by 4 bp at the 5' end was found. The latter mutation has also been observed in an unrelated patient with classical NF1. Both NF1 mutations cause a reduction in neurofibromin of approximately 50%, with no truncated protein present in the cells. This demonstrates that typical NF1 null mutations can result in a phenotype that is distinct from classical NF1, showing only a small spectrum of the NF1 symptoms, such as multiple spinal tumors, but not completely fitting the current clinical criteria for SNF. We speculate that this phenotype is caused by an unknown modifying gene that compensates for some, but not all, of the effects caused by neurofibromin deficiency.- - - - - - - - - - ranking = 0.75keywords = spinal (Clic here for more details about this article) |
8/26. A case of multiple schwannomas of the trigeminal nerves, acoustic nerves, lower cranial nerves, brachial plexuses and spinal canal: schwannomatosis or neurofibromatosis?In most cases, while schwannoma is sporadically manifested as a single benign neoplasm, the presence of multiple schwannomas in one patient is usually indicative of neurofibromatosis 2. However, several recent reports have suggested that schwannomatosis itself may also be a distinct clinical entity. This study examines an extremely rare case of probable schwannomatosis associated with intracranial, intraspinal and peripheral involvements. A 63-year-old woman presented with a seven-year history of palpable lumps on both sides of the supraclavicular area and hearing impairment in both ears. On physical examination, no skin manifestations were evident. Facial sensory change, deafness in the left ear and decreased gag reflex were revealed by neurological examination. magnetic resonance imaging revealed multiple lesions of the trigeminal nerves, acoustic nerves, lower cranial nerves, spinal accessory nerve, brachial plexuses, and spinal nerves. Pathological examination of tumors from the bilateral brachial plexuses, the spinal nerve in the T8 spinal position and the neck mass revealed benign schwannomas. Following is this patient case report of multiple schwannomas presenting with no skin manifestations of neurofibromatosis.- - - - - - - - - - ranking = 6.2405410973819keywords = spinal canal, spinal, canal (Clic here for more details about this article) |
9/26. Neurofibromatosis diagnosed on CT with MR correlation.We report a young man with asymptomatic neurofibromatosis type-1 initially diagnosed on CT. CT demonstrated the typical lesions of this disorder: extensive cervical, thoracic, abdominal and pelvic masses and spinal alterations. The symmetrical distribution and the location of the lesions as well as their attenuation are characteristic of NF-1 and may be considered diagnostic for this disease.- - - - - - - - - - ranking = 0.25keywords = spinal (Clic here for more details about this article) |
10/26. Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) with hypertrophic spinal radiculopathy mimicking neurofibromatosis.This report illustrates a case of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) masquerading as neurofibromatosis due to multifocal enlargements of spinal nerve roots. The patient initially complained of intermittent numbness of the hands and leg weakness at age 62. Nerve conduction velocities were reported to be abnormally slow, suggesting a diagnosis of demyelinating neuropathy. A complaint of progressive lower back pain 4 years later prompted a lumbar CT myelogram, which demonstrated bilateral nerve root enlargements. A biopsy of an enlarged lumbar root obtained during decompressive laminectomy was interpreted as consistent with a plexiform neurofibroma. He suffered recurrent paraparesis, at times with a sensory level indicating spinal cord compression, which responded to corticosteroid therapy. An autopsy 15 years after the onset of symptoms revealed hypertrophic radiculopathy and peripheral neuropathy due to CIDP with no evidence of neurofibromatosis. This case illustrates how the hypertrophic neuropathy accompanying CIDP can be mistaken for neurofibromatosis.- - - - - - - - - - ranking = 1.5keywords = spinal (Clic here for more details about this article) |
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