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At least 703 records · Page 39Linked to original sources
PubMed1998

Cranio-orbital-temporal neurofibromatosis: are we treating the whole problem?

Cranio-orbital-temporal neurofibromatosis is an uncommon subtype of neurofibromatosis 1 characterized by pulsatile exophthalmos, orbital neurofibromas, sphenoid wing dysplasia, expansion of the temporal fossa, and herniation of the temporal lobe into the orbit. The cause of the sphenoid wing dysplasia is uncertain. Reconstruction of the sphenoid defect, separating the orbit and cranial vault, has been problematic because of resorption of bone grafts. This reports illustrates one potential cause of the sphenoid defect and a possible cause of the bone graft resorption.

Bone Resorption↗
PubMed1989

Parathyroid adenoma associated with neurofibromatosis: correlative scintigraphic and magnetic resonance imaging.

Correlative imaging by dual-isotope thallium/technetium subtraction scintigraphy, computed tomography, and magnetic resonance imaging demonstrated a pathologically proven parathyroid adenoma in a 62-year-old man with known neurofibromatosis, who presented with hypercalcemia and an elevated parathormone level. The association between neurofibromatosis and primary hyperparathyroidism is discussed.

Adenoma↗
PubMed2002

Orthopaedic manifestations of neurofibromatosis in children: an update.

Neurofibromatosis is one of the most common genetic disorders affecting mankind. Despite extensive basic science research, the diagnosis still is based largely on well-defined clinical criteria, which often present gradually during childhood. Approximately 50% of patients have significant musculoskeletal manifestations, with scoliosis and congenital pseudarthrosis of the tibia most common. Approximately 20% of children with Type I neurofibromatosis present with scoliosis with or without the classic dystrophic features, such as vertebral scalloping and rib penciling. Dystrophic curves portend rapid progression and require early fusion. Surgical treatment often is challenging because of the common presence of neurofibromas adjacent to the spinal cord, significant multiplanar deformity, and poor bone quality. Congenital pseudarthrosis of the tibia also continues to present significant difficulties. The use of a brace is the mainstay of early treatment, whereas intramedullary rodding commonly is used for operative fixation. Grafting of the free fibula and correction using techniques of distraction and compression histiogenesis with Ilizarov fixators have been reported for refractory cases with varying degrees of success. Multiple heroic, operative attempts may have a tremendous toll on the quality of life of affected children through their early childhood. In addition to these and other distinctive musculoskeletal lesions, affected children often suffer from various medical problems.

Bone and Bones↗
PubMedDate not supplied

Craniocervical manifestations of neurofibromatosis: MR versus CT studies.

Craniocervical manifestations of neurofibromatosis on magnetic resonance (MR) imaging are described in three patients and compared with those on CT. Using MR, intracranial gliomas, schwannomas, and neurofibromas were detected as well as with CT. In addition, a brain stem lesion that was not visualized on CT and a cervical cord lesion that was not suspected clinically were diagnosed with MR. Taking into account the noninvasive nature of MR, we believe that this technique should be the primary imaging modality for screening and follow-up studies in patients with known or suspected neurofibromatosis.

Adult↗
PubMedDate not supplied

Abdominal plexiform neurofibromatosis simulating pseudomyxoma peritonei on computed tomography.

We present and discuss an unusual case of extensive abdominal plexiform neurofibromatosis that simulated pseudomyxoma peritonei on CT. Multiple low density subdiaphragmatic masses caused scalloped liver margins and thickening of the mantle, which displaced bowel loops centrally, suggesting the diagnosis of pseudomyxoma peritonei. However, open biopsy revealed plexiform neurofibromatosis.

Abdominal Neoplasms↗
PubMedDate not supplied

CT and MR of neurofibromatosis of the bladder.

Neurofibromatosis of the genitourinary system is rare. We present the CT and MR findings of neurofibromas of the bladder in three patients with von Recklinghausen disease (neurofibromatosis, Type 1). In one case, genitourinary involvement was the primary presentation of the disease. Both CT and MR imaging revealed diffuse and nodular bladder wall involvement, along with pelvic sidewall and adjacent soft tissue abnormalities. The CT attenuation coefficients measured near soft tissue density. On T1-weighted spin echo MR images the tumors revealed signal intensity slightly greater than that of skeletal muscle. Neurofibromas showed markedly increased signal intensity on T2-weighted images relative to the surrounding soft tissues, with marked enhancement in two cases imaged following Gd-DTPA administration. Obstructive hydronephrosis was present in all cases, presumably due to neurofibromas involving the trigonal region. Pelvic sidewall tumors were visualized as rounded, nodular masses extending into the obturator foramina. In the evaluation of patients with von Recklinghausen disease, MR imaging, compared with CT, more clearly defined tumor extent within the bladder, pelvic sidewalls, and surrounding soft tissues.

Adolescent↗
PubMedDate not supplied

Intestinal duplication in a patient with neurofibromatosis: aid of ultrasound and CT scan in diagnosis.

A 5-year-old boy with neurofibromatosis is described, whose symptoms of abdominal pain and vomiting were due to an intestinal duplication. Intestinal duplication has not been previously reported as a cause of gastrointestinal symptoms in neurofibromatosis. The utilization of ultrasound and computerized tomography scan as useful modalities for the diagnosis of duplication of the bowel is described.

Child, Preschool↗
PubMed1997

Trochlear nerve schwannomas occurring in patients without neurofibromatosis: case report and review of the literature.

OBJECTIVE AND IMPORTANCE: Despite their predilection for sensory nerves, intracranial schwannomas have been reported in a number of mixed and purely motor cranial nerves, especially in association with Type 2 neurofibromatosis. We report the rare occurrence of a trochlear nerve schwannoma in a patient without neurofibromatosis and review 17 other case reports from the literature. CLINICAL PRESENTATION: A 35-year-old woman presented with an 8-week history of evolving left hemiparesis, bilateral bulbar paresis, and out-of-character emotional lability. INTERVENTION: She underwent a left temporal craniotomy and a subtemporal, transtentorial approach to the tentorial hiatus, with complete excision of a cisternal trochlear nerve schwannoma. CONCLUSION: Postoperative complications included temporary oculomotor and abducens nerve palsies and temporary right hemiparesis and mild expressive dysphasia, which were resolved at 23-month follow-up. Preoperative symptoms and signs completely resolved, but a postoperative complete trochlear nerve palsy required inferior oblique myectomy for correction of diplopia. A review of the literature showed no preoperative trochlear nerve involvement in at least 45% of cases. The tumor is isointense on T1- and T2-weighted magnetic resonance images and enhances brightly with gadolinium. The most frequently used approach for surgical excision is the subtemporal approach, and the tumor is almost always totally excised. Long-term follow-up suggests recovery of preoperative deficit, and persisting or new trochlear nerve palsy is the rule.

Adult↗
PubMed1998

Surgical management of spinal cord compression from plexiform neurofibromas in patients with neurofibromatosis 1.

OBJECTIVE: Plexiform neurofibromas with sizable intraspinal extensions and resultant spinal cord compromise pose challenging management problems, because these lesions may involve multiple nerves and engulf adjacent vascular and visceral structures. In this report, we review our experience with the surgical treatment of these lesions. METHODS: Patients were identified by a detailed review of hospital medical records and the database of our multidisciplinary neurofibromatosis clinic. Ten patients had large plexiform neurofibromas that extended intraspinally, producing a combination of myelopathy and radiculopathy. Two patients exhibited single-level intraspinal growth, and eight showed multilevel involvement. Four patients showed bilateral plexiform neurofibromatous growth intraspinally, with "hourglass" compression of the spinal cord. Operative approaches and outcomes were reviewed in detail. RESULTS: Gross total resection of the symptomatic intraspinal tumor component was achieved for nine patients. The management of the extraspinal component was individualized, depending on the pattern and extent of involvement of the surrounding structures. Nine patients experienced complete recovery of neurological function postoperatively; the remaining patient demonstrated significant functional improvement. With a median follow-up period of 4 years, only one patient has developed recurrent intraspinal compression, in this case from tumor involvement by the same plexiform lesion at a lower spinal level. Two patients treated early in the series using standard laminectomy approaches developed significant kyphotic deformities, necessitating subsequent fusion. Based on these initial results, osteoplastic laminotomy techniques were used in the last five cases, allowing anatomic reconstruction of the involved levels; none of these latter patients has developed significant kyphosis, with a median follow-up period of 3 years. CONCLUSION: Radical resection of intraspinal tumor components in patients with neurofibromatosis 1 and large plexiform neurofibromas can help to preserve excellent neurological function. Technical factors in the management of these lesions are presented.

Adolescent↗
PubMed1984

Intracranial enlargement of the orbital cavity and palpebral remodeling for orbitopalpebral neurofibromatosis.

Exophthalmos with lowering of the globe, eyelid enlargement, and canthal displacement are the usual consequences of orbitopalpebral neurofibromatosis. A cerebral hernia into the orbit may be seen on CT scan. An intracranial approach allows for pushing back the brain with a bone graft to create an enlarged orbital cavity, lifting the globe with a graft on the orbital floor, and fixing the canthi in proper position. An eyelid radical resection is performed in the same stage or later. This approach is discussed in the treatment of 17 cases of orbitopalpebral neurofibromatosis.

Adult↗
PubMed1998

Transcranial correction of orbital neurofibromatosis.

Neurofibromatosis is a systemic disease that often produces striking disfigurement. Orbital manifestations are common and include sphenoid dysplasia with or without infiltration of the periorbital soft tissues. The resultant deficiency of the posterolateral orbital wall may lead to protrusion of the temporal lobe into the orbit, displacement of the globe, and pulsatile exophthalmos. Treatment at our unit has consisted of transcranial orbital reconstruction with bone grafts and periorbital soft-tissue correction. Observation of complete bone graft resorption in one patient prompted an assessment of the Australian Craniofacial Unit's experience with particular attention paid to the stability of operative correction. Of 36 patients with head and neck neurofibromatosis treated during the period from 1981 to 1995, 14 patients underwent transcranial correction of orbital deformities secondary to sphenoid dysplasia. The treatment and outcomes of this transcranial group are reviewed. The most notable finding was that of recurrent globe pulsation in four patients following initial resolution. Computed tomography scans have documented partial to complete bone graft resorption in three of these patients. Titanium mesh is now being utilized to provide a more durable reconstruction.

Adolescent↗
PubMed1992

Familial occurrence of combined pigment epithelial and retinal hamartomas associated with neurofibromatosis 2.

Combined pigment epithelial and retinal hamartomas are rare lesions that usually occur sporadically in individuals without systemic abnormalities. However, they have been reported in isolated patients with neurofibromatosis 1 and 2. No familial cases have been reported. The cases of four patients with unilateral macular lesions from three consecutive generations of a single family are presented: two of the patients also have neurofibromatosis 2. The ophthalmoscopic appearance of their ocular lesions resembles combined pigment epithelial and retinal hamartomas. The morphologic differences in the lesions of these 4 patients, whose ages are 8 months, 5 years, 29 years, and 65 years, may serve to demonstrate the evolution of this type of hamartoma.

Adult↗
PubMed1989

Cutaneous segmental neurofibromatosis.

A recent case of cutaneous segmental neurofibromatosis provided the opportunity to review the literature to better understand this rare disease. This cutaneous form of the disease usually appears only on the skin, without other systemic involvement; it is not inherited. Only 19 additional cases in the English literature could be found, three cases with extracutaneous manifestations; three cases were familial. The prognosis for this form of neurofibromatosis is excellent, but examination for evidence of systemic disease is indicated.

Abdomen↗
PubMed1989

Lupus anticoagulant and cerebrovascular accident in a patient with neurofibromatosis.

This report describes the case of a young woman with biopsy-proven neurofibromatosis and a history of recurrent fetal wastage who had sudden onset of slurred speech and left-sided weakness. CT scan and MRI revealed multiple cerebral infarcts. Laboratory evaluation revealed lupus anticoagulant and high levels of anticardiolipin antibody. This case illustrates the thrombotic tendencies seen in patients with lupus anticoagulant and anticardiolipin antibody, and is the first reported case of LA in association with neurofibromatosis.

Abortion, Spontaneous↗
PubMed2000

Pigmentary disorders: update on neurofibromatosis-1 and tuberous sclerosis.

Pigmentary disorders are a common finding in primary care pediatric practice. Tuberous sclerosis and neurofibromatosis type 1 are two pigmentary disorders that have had many changes in their diagnostic and therapeutic approach. This review focuses on the significant advances in the past few years in the genetics and diagnostic criteria of these disorders. A review of the clinical presentation of neurofibromatosis is provided along with the revised diagnostic criteria for tuberous sclerosis. A logical approach to testing the tuberous sclerosis patient and his or her family is included.

Brain Neoplasms↗
PubMedDate not supplied

Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases.

Two boys with neurofibromatosis-Noonan syndrome in whom acute lymphoblastic leukemia (ALL) developed are described. Both patients demonstrated B-lineage leukemias with normal cytogenetics. They were treated with combination chemotherapy and remain in remission off therapy. Patients with neurofibromatosis-Noonan syndrome may be at increased risk for ALL.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed2004

Spinal cord schwannomas mimicking drop metastases in a patient with intramedullary ependymoma and neurofibromatosis 2.

The authors describe a 9-year-old boy with a large spinal cord ependymoma whose apparent drop metastases on imaging studies were later demonstrated to be schwannomas. This finding led to the discovery of small bilateral acoustic neuromas and an intracranial meningioma, establishing the diagnosis of neurofibromatosis 2. The presence of additional radiographic abnormalities in a patient with a spinal cord tumor should prompt careful consideration of the diagnosis of neurofibromatosis 2, as early identification of this disorder may significantly affect patient management.

Child↗