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PubMed1988

Deficiency of a 42-kilodalton protein in tumor-derived fibroblastic cells in neurofibromatosis.

Cell proteins obtained from cultured normal appearing skin and neurofibromas of neurofibromatosis patients, and normal skin of normal donors were compared by SDS-PAGE and isoelectric focusing analysis. Essentially, identical protein patterns were obtained for the pellet fractions of all the strains. The lysate fraction binding patterns were also similar to each other, but a deficiency of a 42-kilodalton protein with pI 4.3 was observed in the four tumor-derived cell strains examined. These results raise the possibility that tumor-derived fibroblastic cells are of the same cell origin as skin fibroblasts, and that the deficiency of a 42-kilodalton protein could be related to the tumorigenicity in neurofibromatosis.

Electrophoresis, Gel, Two-Dimensional↗
PubMed1996

A case of renovascular hypertension associated with neurofibromatosis.

We report a case of renovascular hypertension associated with neurofibromatosis complicated by moderate proteinuria. A 16-year-old female was admitted to Kensei General Hospital with a complaint of headache and a blood pressure of 230/120 mm Hg. She was referred to us for further evaluation of the hypertension. On examination, cafe-au-lait spots were seen over her extremities and flank, and a bruit was heard in the right upper abdomen. The urinary protein excretion was 2.1 g/day. The plasma renin activity (PRA) and plasma aldosterone concentration were high, but the levels of catecholamines were normal. The renogram was asymmetric and on venous sampling, the PRA in the right renal vein was 58.3 ng/ml/h and that in the left was 22.1 ng/ml/h. CT scan detected an approximately 10-mm mass in the proximal right renal artery. Arteriography disclosed severe stenosis in the right renal artery and the superior mesenteric artery. Therefore, we concluded that her hypertension resulted from stenosis of the right renal artery due to neurofibromatosis. Accordingly, she underwent an operation to reconstruct that artery. After the operation, her blood pressure and PRA normalized without administration of any anti-hypertensive drug and urinary protein disappeared.

Adolescent↗
PubMed1990

Preservation of hearing in neurofibromatosis 2.

Preservation of hearing in the neurofibromatosis 2 (central neurofibromatosis) patient has been infrequently documented. This goal can be attained in selected patients and should be more frequently accomplished in the future with improved diagnostic capabilities and improved surgical techniques. We report three patients in whom this elusive goal has been accomplished.

Adolescent↗
PubMed2006

Clinical phenotype of South African children with neurofibromatosis 1.

Forty-eight children with neurofibromatosis 1 presenting between 2000 and 2004 were reviewed for their clinical phenotype, and data were compared with published reports. The median age at presentation was 4 years (range 10 days to 12 years). The male to female ratio was similar (22 male:26 female). There were frequencies of café au lait spots, axillary freckling, Lisch nodules, and new mutations comparable to those cited in the literature. Fewer patients had neurofibromas (4%), but more patients had plexiform neurofibromas of the head and neck (16%). Three patients of the 22 who had neuroimaging had optic gliomas (14%). The most consistent disability, with maximum impact, related to the patient's cognitive level of functioning. School problems, defined as learning and behavioral problems observed in the classroom, were reported in 70% of school-aged children (n = 21), compared with international figures of 29.8% to 45%. This high prevalence has reinforced the clinic service policy of formal neuropsychology assessments in all children with reported school problems. In addition, earlier referral of children to the service (preschool n = 18) has enabled formal developmental assessments and planning of specific educational placement to optimize learning. This is the first description of the neurofibromatosis 1 phenotype from the African continent. The multidisciplinary approach to management has proved beneficial in the South African context. The combined clinic has resulted in a holistic approach to patient care, early detection of pathology, consistent therapies across the specialties, and better patient attendance and compliance. (J Child Neurol 2006;21:63-70).

Brain↗
PubMed1999

Pediatric eighth cranial nerve schwannoma without evidence of neurofibromatosis.

Schwannomas of the eighth cranial nerve are rare in children. We report a 4 10/12 - year-old girl with no evidence of neurofibromatosis who presented with facial droop. Radiographic studies revealed a large cerebellopontine angle tumor. At surgery, the tumor was attached to the eighth cranial nerve and histologically was a schwannoma. This is the youngest reported case of unilateral eighth cranial nerve schwannoma in a patient without the stigmata of neurofibromatosis.

Child, Preschool↗
PubMedDate not supplied

Ruptured popliteal aneurysm resulting from neurofibromatosis-a case report and review of the literature.

Rupture of an aneurysm in a patient suffering from neurofibromatosis is a rare though documented complication. Presented here is the case of a 33-year-old woman with known neurofibromatosis who underwent repair of a symptomatic popliteal aneurysm. The presentation, diagnostic evaluation, and treatment are discussed, and the literature is reviewed on this rare entity.

Adult↗
PubMed2004

Severe hypotension in the prone position in a child with neurofibromatosis, scoliosis and pectus excavatum presenting for posterior spinal fusion.

UNLABELLED: A 34-mo-old boy with neurofibromatosis, scoliosis, and pectus excavatum developed severe hypotension when positioned prone. A magnetic resonance image study revealed neurofibromas encircling the great vessels. During the next anesthetic the patient was placed in the prone position on transverse bolsters and hypotension ensued again. A transesophageal echocardiogram (TEE) revealed compression of the right ventricle by the sternum. When the child was turned supine, the blood pressure returned to baseline. The patient was returned to the prone position, this time with bolsters placed longitudinally, without problem. This case supports a cardiac evaluation, possible intraoperative TEE, and avoidance of sternal pressure in patients with chest wall deformities requiring prone positioning. IMPLICATIONS: A child with neurofibromatosis, scoliosis, and a chest wall deformity presenting for spinal fusion developed severe hypotension while prone. This was due to compression of the heart by the sternum, not compression of the great vessels by neurofibromas. Sternal pressure in prone patients with chest wall deformities should be avoided. Unique management included the use of transesophageal echocardiography to determine the cause of the hypotension.

Adult↗
PubMed1992

Fetal hydrocephalus associated with maternal neurofibromatosis.

Neurofibromatosis (NF), an autosomal dominant inherited disorder affecting multiple organ systems, is rare among pregnant women. NF in pregnancy has been reported to be complicated by maternal hypertension, fetal intrauterine growth retardation and fetal wastage. A case of pregnancy associated with neurofibromatosis, complicated by pregnancy aggravated chronic hypertension, asymmetric intrauterine growth retardation and fetal hydrocephalus is described. Possible interrelations between those pathologies are discussed.

Female↗
PubMed1999

[Acoustic neuroma in children without association with neurofibromatosis. Report of 2 cases].

Acoustic schwannoma is the most common tumor of the cerebellopontine angle in adults and is rarely found in children without neurofibromatosis. In the literature there are 18 children under the age of 16 with such tumor. Two female patients with age of 9 and 15 years old with acoustic schwannoma without neurofibromatosis are related. Progressive deafness followed by signs and symptoms of a posterior fossa tumor were the initial complaint of both, as well as of the other related cases and in adulthood.

Adolescent↗
PubMed2003

Segmental neurofibromatosis [NF type - v].

Segmental neurofibromatosis is a rare variant of neurofibromatosis in which skin lesions are confined to a circumscribed body segment. A case of a 39-year-old man with this condition is presented, who was having multiple soft skin tumours over a localized area of back with no associated cafe au lait spots, axillary freckles or lish nodules. Histology confirmed the diagnosis of neurofibroma.

Adult↗
PubMed1997

A 23-year-old patient with neurofibromatosis associated with acute myocardial infarction, vasospasm and a coronary artery ectasis.

We treated a 23-year-old male with neurofibromatosis with acute myocardial infarction. Cardiac catheterization revealed severe organic stenosis in the left anterior descending artery, an ectasic left circumflex artery and a small right coronary artery. Percutaneous transluminal coronary angioplasty (PTCA) was performed on the stenosis. In follow-up catheterizations, intracoronary administration of ergometrine induced vasospasm of the left coronary artery including at the PTCA site. An I 123 metaiodobenzylguanidine (MIBG) scintigram showed defects in the septum, inferior wall and apex. These findings suggest abnormality of the cardiac sympathetic nerve in neurofibromatosis.

3-Iodobenzylguanidine↗
PubMedDate not supplied

Small intestinal stromal tumors with skeinoid fibers in neurofibromatosis: report of four cases with ultrastructural study of skeinoid fibers from paraffin blocks.

Small intestinal stromal tumors (SIST) with skeinoid fibers (SF) are reported in four patients with neurofibromatosis. SF appeared as intercellular eosinophilic globules that stained positively on periodic acid-Schiff stain and bluish on Masson trichrome stain, like those reported previously. Electron microscopic confirmation of SF was carried out on tissue retrieved from paraffin blocks, which revealed diagnostic ultrastructural features of SF. The association of SIST with SF and neurofibromatosis enhances the diagnostic value of SF as a marker of neurogenic spindle cell tumors. This study also underscores the importance of electron microscopy for differentiation of SF from pseudoskeinoid structures, which may mimic SF on light microscopic examination.

Adult↗
PubMed1989

Juvenile chronic myelogenous leukemia and neurofibromatosis in infancy presenting as ocular hemorrhage.

A patient presenting with intraocular hemorrhage at 4 weeks of life was suspected of having sustained a nonaccidental injury. Juvenile chronic myelogenous leukemia (JCML) was diagnosed, and subsequently the patient developed the signs of neurofibromatosis. There is an association between the two conditions, but the poor prognosis from JCML may mean that evolving neurofibromatosis is overlooked, particularly if a family history of the disease is not obtained.

Eye Hemorrhage↗
PubMedDate not supplied

Neurofibromatosis cerebral vasculopathy in an infant: clinical, neuroradiographic, and neuropathologic studies.

An infant with neurofibromatosis developed recurrent cerebrovascular accidents beginning at 3 months of life. Cerebral arteriography demonstrated large-vessel occlusive disease and bilateral severe moyamoya. At autopsy these lesions were apparent on gross examination, and advanced intimal and medial dysplasia was seen on microscopic examination of both the anterior and posterior circulations. Although rare, neurofibromatosis cerebrovasculopathy may occur in young infants and may account for some strokes in this age group.

Arterial Occlusive Diseases↗
PubMed2002

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.

Brachial Plexus Neuropathies↗
PubMed1992

Intestinal neurofibromatosis in von Recklinghausen's disease: presenting as chronic anemia due to recurrent intestinal hemorrhage.

Neurofibromatosis (von Recklinghausen's disease) is a neuroectodermal disorder characterized by pigmentary changes of the skin (café-au-lait spots), cutaneous and visceral tumors (neurofibromas) and systemic abnormalities. The involvement of gastrointestinal tract in neurofibromatosis is not common. The most common symptoms, refer able to lesions in the gut, are hematemesis, melena and abdominal pain. We experienced a case of intestinal neurofibroma in von Recklinghausen's disease. The patient was a 39 year-old female who had suffered from chronic iron deficiency anemia and recurrent gastrointestinal hemorrhage due to two neurofibromas of jejunum for 3 years, which was diagnosed by superior mesenteric and ileal arteriogram and 99mTc pertechnetate-labelled RBC scan, and treated by segmental resection of jejunum with end to end anastomosis.

Adult↗
PubMed2006

[Optic nerve glioma in a case of neurofibromatosis-1 in a child].

CLINICAL CASE: The case of a three-year-old patient with neurofibromatosis type I is presented. Ophthalmologic evaluation revealed, by means of magnetic resonance imaging, the presence of a silent glioma in the optic nerve of the left eye. DISCUSSION: Neurofibromatosis-1 can present in multiple ways to the ophthalmologist, with a glioma of the optic nerve being one of the most frequent central nervous system presentations in this illness. Generally the glioma affects the optic chiasm and its course is indolent, with conservative management and close monitoring usually being advised until progression is defined.

Child, Preschool↗