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PubMed2006

Utility of multimodal evoked potentials study in neurofibromatosis type 1 of childhood.

A group of 21 children affected by neurofibromatosis type 1 has been investigated with the aim of studying multimodal (visual, brainstem auditory, and somatosensory) evoked potentials and their correlations with neurologic, electroencephalographic, and cranial magnetic resonance imaging. In the present series, cranial magnetic resonance imaging and evoked potentials were the most frequently abnormal instrumental tests. In approximately two thirds of the cases at least one of the evoked potentials (particularly visual and auditory evoked potentials) was compromised, always without clinical signs of related sensory (visual, auditory, and somatosensory) pathway pathology and sometimes in the absence of magnetic resonance imaging signs of central nervous system involvement. This study indicates that in patients with neurofibromatosis type 1, multimodal evoked potentials are useful and should be part of the diagnostic protocol of encephalic lesions together with magnetic resonance imaging. The use of both methods could aid in early detection of central nervous system dysfunction in both the initial evaluation of disease and its follow-up.

Adolescent↗
PubMedDate not supplied

Neurofibromatosis type I with severe dystrophic kyphoscoliosis and its operative management via a simultaneous anterior-posterior approach: a case report and review of the literature.

BACKGROUND CONTEXT: Neurofibromatosis is an autosomal-dominant hereditary disorder with two subtypes: NF-1 (type I) and NF-2 (type II). NF-1 is a complex disorder with a constellation of manifestations that can also entail skeletal abnormalities, including spinal deformity of a noncongenital nature with early age onset. The short, sharp, angular curve usually present in the thoracic region, as exhibited in NF-1, presents a quandary in its surgical management. Various studies have reported on the efficacy of anterior correction as opposed to posterior alone, whereas others have advocated a sequential, combined approach to diminish the degree of deformity and achieve solid arthrodesis. However, despite solid arthrodesis, curve progression may still ensue. Nonetheless, a simultaneous anterior-posterior approach to treat such a condition of NF-1 with severe dystrophic kyphoscoliosis is a rare occurrence. PURPOSE: To describe the presentation and operative management of a patient with NF-1 and severe dystrophic kyphoscoliosis. STUDY DESIGN: A case report and review of the literature. METHODS: A clinical and radiographic review of a 51-year-old male patient who presented with NF-1, a 165-degree thoracic kyphotic deformity, associated scoliosis, varied degree of vertebral destruction of T9-T11, and paraparesis below T10. RESULTS: Operative intervention of the deformity consisted of a simultaneous anterior-posterior approach and entailed posterior cord exposure, anterior vertebrectomy of T9-T11, cord decompression, posterior osteotomy (posterior elements were auto-fused), anterior distraction and kyphosis correction, anterior strut grafting, anterior rod instrumentation, and posterior compression instrumentation and fusion from T6-L2. The deformity was reduced, sold fusion was noted, and the patient was asymptomatic. CONCLUSIONS: A simultaneous anterior-posterior approach for the surgical treatment of severe dystrophic kyphoscoliosis in neurofibromatosis type I is an avenue to properly visualize the spinal cord, achieve solid arthrodesis, and to minimize as well as prevent the progression of deformity.

Humans↗
PubMed2006

Meningioangiomatosis associated with neurofibromatosis: report of 2 cases in a single family and review of the literature.

BACKGROUND: Meningioangiomatosis (MA) is a rare benign disorder. It may occur sporadically or in association with neurofibromatosis (NF). The sporadic type typically presents with seizures, whereas that associated with NF is often asymptomatic. Of the 100 cases reported, only 14 are associated with NF. We now report 2 additional cases of MA associated with neurofibromatosis 2 (NF2) in a single family, with one occurring in the cerebellum. The etiology, pathology, and imaging features of MA are presented. CASE DESCRIPTION: A 38-year-old woman (patient 1) presented with a 4-month history of ataxia. She had been diagnosed previously with NF2. Magnetic resonance imaging (MRI) scans of the brain revealed bilateral acoustic neuromas and multiple calcified intracranial lesions. Her 13-year-old daughter (patient 2) presented with complex partial seizures. MRI scans of the brain revealed bilateral acoustic neuromas and a right parietal mass. Patient 1 underwent a suboccipital craniotomy to resect the right-sided acoustic neuroma. A small portion of normal-appearing cerebellar cortex was resected to avoid undue retraction. Histopathologic examination showed the presence of a lesion consistent with MA. Patient 2 underwent a right temporal-parietal craniotomy to remove the enhancing epileptogenic right posterior temporoparietal lesion. Histopathologic analysis showed a lesion consistent with meningioma and MA. CONCLUSIONS: MA has been reported infrequently in association with NF2. We now report 2 cases of MA associated with NF2 in one family, and we add the cerebellum to possible locations of occurrence. MA should be considered in the differential diagnosis of cortical lesions, particularly in patients with NF2.

Adolescent↗
PubMed1995

Retinal changes associated with neurofibromatosis 2.

INTRODUCTION: Neurofibromatosis (NF) is now known to be more than one disease. NF2, formerly classified as central neurofibromatosis, is characterized by bilateral vestibular schwannomas, previously termed "acoustic neuromas", and is much less common than NF1. Lens opacities at an early age have been described in approximately 85% of NF2 patients. PURPOSE: To determine the frequency of retinal abnormalities in NF2 patients. METHODS: We prospectively examined 15 consecutive patients who met the diagnostic criteria of NF2. RESULTS: We observed an epiretinal membrane in the macular or paramacular area in 12 of 15 patients, and a combined pigment epithelial and retinal hamartoma in the macula of one patient who also had an epiretinal membrane in the macula of the other eye. Additionally, 11 patients had central posterior cortical, subcapsular, or peripheral cortical lens opacities. CONCLUSIONS: Children or young patients with epiretinal membranes, combined pigment epithelial retinal hamartoma, and lens opacities that are not the result of other ocular disorders should have a neurologic evaluation and a careful family history for NF2.

Adolescent↗
PubMed2002

Altered calcium-mediated cell signaling in keratinocytes cultured from patients with neurofibromatosis type 1.

Capacitative calcium entry and calcium wave propagation were studied in keratinocytes cultured from control persons and patients with type 1 neurofibromatosis. The cells were stimulated mechanically in the presence of inhibitors of gap-junctional or ATP-mediated communication to determine which pathways are operative in Ca(2+) signaling between these cells. Keratinocytes cultured from patients with type 1 neurofibromatosis (NF1) had a tendency to form cultures with markedly altered calcium-related signaling characteristics. Specifically, the resting Ca(2+) levels, intracellular Ca(2+) stores, capacitative calcium influx, and gap-junctional signal transduction were defective in NF1 keratinocytes. Western transfer analysis revealed apparently equal connexin 43 protein levels in normal control and in NF1 keratinocytes. Indirect immunofluorescence, however, demonstrated that connexin 43 was relatively evenly distributed in NF1 cells and did not form typical gap-junctional plaques between keratinocytes. Furthermore, the speed of the calcium wave was reduced in NF1 cells compared to normal keratinocytes. The results demonstrate that keratinocytes cultured from patients with NF1 display altered calcium-mediated signaling between cells.

Adenosine Triphosphate↗
PubMed1993

Case report: imaging of widespread plexiform neurofibromatosis.

Although the cutaneous, bony and retroperitoneal appearances of peripheral von Recklinghausen neurofibromatosis are well known, involvement of intra-abdominal organs and of the mediastinum is less well recognised. We present the case of a woman with peripheral neurofibromatosis who presented with loin pain. In addition to cutaneous neurofibromas, plexiform neurofibromas were present in the mediastinum, liver, mesentery and psoas muscles.

Adult↗
PubMed1985

Hypertension from isolated thoracic aortic coarctation associated with neurofibromatosis.

A 14-year-old boy presented with hypertension and symptomatic cervical root neurofibromatosis. Isolated thoracic aortic coarctation and large collaterals adjacent to the cervical spine were identified. Surgical correction of the coarctation allowed safe excision of the neurofibroma and reversal of hypertension. Hypertension in the presence of neurofibromatosis requires evaluation of a number of correctable etiologies.

Adolescent↗
PubMed1992

Emergence of optic pathway gliomas in children with neurofibromatosis type 1 after normal neuroimaging results.

We report the appearance of gliomas of the optic nerve or chiasm in four young children with neurofibromatosis type 1 whose previous neuroimaging studies showed no abnormalities; the age range of the children was 1 year 8 months to 5 years 9 months at the time the tumors were detected. Normal neuroimaging findings in an infant or young child with neurofibromatosis type 1 does not provide assurance that the optic nerves and chiasm will remain healthy.

Child, Preschool↗
PubMed1986

Genitourinary neurofibromatosis in a child presenting with an enlarged penis and scrotum.

We report on a boy with genitourinary neurofibromatosis. The patient presented with bilateral hydronephrosis, and a markedly enlarged penis and scrotum. Laparotomy showed a mass occupying the small pelvic cavity. Histologically, the mass was a plexiform neurofibroma. The enlarged genitalia seemed to be caused by involvement of neurofibromatosis. The patient underwent a successful ileal conduit diversion.

Child↗
PubMed2004

[Multiple sclerosis associated with neurofibromatosis type I].

Association between neurofibromatosis type 1 (NF-1) and multiple sclerosis (MS) has been very rarely described. We report the case of a 40-year-old woman presenting familial NF-1 who had café au lait spots and cutaneous neurofibromatosis since childhood. Five years earlier, she experienced a first episode of unilateral optic neuritis, recurrent sensory and motor disturbances, then gait ataxia and pyramidal tract dysfunction with progressive walking impairment. Altered evoked potentials, CSF analysis and cerebral MRI findings were consistent with the diagnosis of MS (secondary progressive form after relapsing-remitting phase). We review major demographic, clinical and laboratory data of MS associated with NF-1 and discuss about the potential pathophisiological mechanisms implied.

Adult↗
PubMedDate not supplied

Blindness, deafness, quadriparesis, and a retinal malformation: the ravages of neurofibromatosis 2.

Advances in molecular biology have established that the diseases once collectively referred to as neurofibromatosis are actually genetically distinct and clinically heterogenous conditions. This realization has led to separate definitions for neurofibromatosis (NF) type 1 and 2. Although ophthalmologic manifestations of NF1 have long been recognized, the distinguishing ocular features of NF2 have only recently received attention. We describe an inferior retinopapillary malformation with an overlying glial hamartoma in a deaf, quadriparetic patient with NF2. Magnetic resonance (MR) imaging initially showed bilateral vestibular schwannomas and a large cervical ependymoma. Over six years of follow-up, the patient developed multiple intracranial meningiomas.

Adult↗
PubMedDate not supplied

Ocular ischemic syndrome in a child with moyamoya disease and neurofibromatosis.

Ocular ischemic syndrome is extremely rare in childhood. Patients with moyamoya disease may be particularly susceptible to the development of ocular ischemia due to the associated carotid occlusion. A 19-month-old boy presented with neurofibromatosis and signs of ocular ischemia. At 29 months of age, he developed dense right vitreous hemorrhage and eventually lost vision in that eye due to phthisis. At almost six years of age, he developed an acute hemiplegia and was then diagnosed with moyamoya disease. This rare instance of childhood ocular ischemia in conjunction with moyamoya disease and neurofibromatosis demonstrates the serious ocular and systemic sequelae of occlusive vascular disease.

Arterial Occlusive Diseases↗
PubMed1998

Cerebral aneurysm associated with von Recklinghausen's neurofibromatosis: a case report.

BACKGROUND: von Recklinghausen's neurofibromatosis is a hereditary disease that may affect any organ or system of the body primarily or secondarily, including the vascular system. Among the rare cerebrovascular abnormalities, the most common is stenosis or occlusion of the cerebral artery. Intracranial aneurysms are uncommon. CASE DESCRIPTION: A case of an intracranial cerebral aneurysm associated with von Recklinghausen's neurofibromatosis is reported. A 55-year-old woman presented with a history of intermittent headache for 2 months and right oculomotor nerve palsy for 1 month. Widespread cutaneous neurofibromas and angiomas were found over her trunk and limbs with prominent cafe-au-lait spots. X-ray showed that her left lung was compressed by a large mass in the left chest with rib defects and lateral spinal curvature. Right internal carotid angiography revealed a saccular aneurysm between C1 and C2. Craniotomy to clip the aneurysm could not be performed because the mass in her chest made intubation for general anaesthesia almost impossible. CONCLUSION: The clinical features of this case are discussed together with a review of 15 similar cases in the literature. There are different theories about this disorder. We agree that the malformations are derived not only from ectodermal, but also from mesodermal pathology. In terms of our case, we consider the progression of this disease to be slow.

Cerebral Angiography↗
PubMed1999

Neurofibromatosis type 2 with multiple primary brain tumors in monozygotic twins.

BACKGROUND: Although monozygotic twins with neurofibromatosis complicated by brain tumors rarely have been reported, none of them fulfilled the diagnostic criteria for neurofibromatosis type 2 (NF2). METHOD: We describe here the first pair of monozygotic twins with NF2, and the result of the molecular analysis of their NF2 gene. RESULTS: One of the brothers (Case 1) developed tetraparesis and cerebellar truncal ataxia at age 12. He had no skin lesions. Radiological examinations revealed, at one time or another, bilateral vestibular schwannomas, a foramen magnum meningioma, five supratentorial meningiomas, and multiple spinal cord tumors. He underwent three operations over a 10-year period to remove tumors. The patient is now 23 years old and is in college. Although asymptomatic when examined at age 12, CT scan revealed that his brother (Case 2) also had multiple brain tumors, including meningiomas, schwannomas, and multiple spinal tumors. Tumors were removed in eight operations over a 10-year period. The patient is now deaf and confined to a wheelchair. An identical nonsense mutation caused by a C to T transition (C169) in a CpG dinucleotide of the NF2 gene was identified in both patients. CONCLUSION: These results led us to speculate that dissimilarities with respect to time of appearance, distribution, and extent of symptoms and tumors between the twins were dependent on the influence of other genetic factors.

Adult↗
PubMed1978

Possible maternal effect on severity of neurofibromatosis.

62 patients with neurofibromatosis (from 54 families) whose signs or symptoms began in childhood were assessed as to the severity of disease and whether the individual was a new mutation or born to an affected father or mother. The morbidity of disease was much more severe in cases born to affected mothers than in those born to affected fathers or those who were new mutations. This finding suggests that there may be a maternal effect in neurofibromatosis similar to that which has been observed in myotonic dystrophy. This effect may be humorally mediated.

Adolescent↗
PubMed1998

Mutational analysis of N-RAS and GAP-related domain of the neurofibromatosis type 1 gene in chronic myelogenous leukemia.

RAS mutations can be detected in a variable number of patients with myeloproliferative disorders such as myelodysplastic syndromes and acute myeloid leukemia, but are rare events in chronic myelogenous leukemia in chronic phase. However, there is good evidence supporting the involvement of RAS signalling pathway in CML and this could be due to alterations in RAS activity regulatory proteins. The neurofibromatosis (NF1) gene down-regulates the RAS signal transduction pathway through the inhibitory function of its GAP-related domain (GRD) on RAS protein. The loss or alteration of neurofibromin (the NF1 protein) may produce a disfunction similar to point mutations in the RAS gene resulting in the permanent stimulation of the RAS signal transduction pathway. Mutations involving the GRD region of the NF1 gene (GRD-NF1) have been described in a variety of tumors such as colon carcinoma and astrocytoma. Germline mutations and deletions in the NF1 gene, as seen in neurofibromatosis type 1, are also associated with certain myeloid disorders. In the present work, we sought to identify mutations in the codons 12/13 and 61 of RAS gene and in the Lys-1423 codon of GRD-NF1, which are well known hot spots in these genes, in a group of 36 adults and ten children with chronic myelogenous leukemia in chronic phase and blast crisis. Using the PCR-SSCP and the allele-specific restriction assay (ASRA) techniques, we were not able to observe any RAS or NF1 detectable mutation. These findings suggest that RAS and GRD-NF1 mutations are not involved either in chronic phase or in the progression to blast crisis in chronic myelogenous leukemia in adults and children.

Adult↗
PubMedDate not supplied

Damselfish with neurofibromatosis exhibit cytotoxicity toward tumor targets.

Damselfish neurofibromatosis (DNF) is a malignant transmissible disease affecting Schwann cells, and is the only naturally occurring animal model of human neurofibromatosis type 1. The current study was designed to determine whether fish in the early stages of disease have measurable immune responses toward DNF tumor cells. Three DNF tumor cell lines were used as targets in standard 51Cr cytotoxic assays. In addition, Lutjanus griseus erythrocytes served as nonspecific targets, and concanavalon A (Con A) blasts from healthy animals served as normal target cells. Results of this study show that tumor-bearing damselfish have cells capable of destroying tumor targets but healthy animals display minimal, if any, reactivity toward the DNF tumor lines. The majority of antitumor activity resides in the spleen; the pronephros appears to contain the majority of nonspecific activity. Data also show that some of the effector cells are analogous to the nonspecific cytotoxic cells of catfish. No lysis of healthy damselfish targets was observed. Thus damselfish have cytotoxic cells capable of interacting with tumor targets, but in the majority of animals this response is not adequate to circumvent the process of tumorigenesis.

Animals↗
PubMed1992

Ocular findings associated with neurofibromatosis type II.

BACKGROUND: Neurofibromatosis has been recently acknowledged as consisting of a number of different diseases. Neurofibromatosis (NF) type I and NF type II are the most clearly defined. Type II is characterized by bilateral acoustic neuromas and is rare (its incidence is 1/50,000). The previously reported ocular associations of NF type II are posterior subcapsular cataracts, Lisch nodules, and combined hamartomata of the retinal pigment epithelium and retina. In this study, the authors attempt to define further the ocular manifestations of NF type II. METHODS: The authors prospectively examined 9 patients who met the diagnostic criteria for NF type II (age, 18 to 38 years; mean, 25 years). RESULTS: Seven of nine patients had epiretinal membranes in the posterior pole. None of these epiretinal membranes were visually significant. In addition, five patients had central posterior cortical cataracts and five had peripheral wedge-shaped cortical cataracts. CONCLUSION: The presence of epiretinal membranes in young patients may represent another clinical finding associated with NF type II. Epiretinal membranes, central posterior cataracts, peripheral cortical cataracts, or combined hamartoma of the retinal epithelium and retina in young patients should alert the ophthalmologist to include NF type II in the differential diagnosis in patients with stigmata of NF type II.

Adolescent↗