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At least 883 records · Page 49Linked to original sources
PubMed1990

[Peripheral neurofibromatosis and involvement of lumbosacral nerves. Value of imaging].

We report a case of giant plexiform neurofibromatosis revealed by a sensori-motor, axo-myelinic polyneuropathy. Only the lumbar and sacral spinal nerves were involved in this peripheral form of Von Recklinghausen's disease. The polyneuropathy was due to compression of the nervous fibers by the neurofibromatous tumors. Ultrasonography DTPA 99 m Technetium scintigraphy, CT and MRI were the diagnostic procedures. MRI proved superior to CT in demonstrating the extent of the lesions. Biopsy confirmed the diagnosis. This form of neurofibromatosis did not involve the central nervous system, cranial nerves of cervicothoracic spinal nerves and roots; nor was there any visceral involvement, particularly endocrine neoplasia.

Adult↗
PubMed1990

Precocious puberty and neurofibromatosis of von Recklinghausen. A clinical report.

A case of a 9-year-old boy with neurofibromatosis of von Recklinghausen and precocious puberty is reported. The patient was referred to us because of an unexplained onset of precocious puberty. Clinical manifestations of neurofibromatosis included multiple café-au-lait spots, skeletal anomalies, progressive impairment of vision and precocious sexual development. CT scan and NMR demonstrated the presence of optic gliomas. The correlation between the lesions of retino-hypothalamic projection and production of the neuroendocrinology mechanism of sexual changes is discussed.

Brain↗
PubMedDate not supplied

[Lethal pulmonary involvement in neurofibromatosis].

A unusual case of a 61-year-old man who presented dyspnea and cough associated to skin and subcutaneous lesions typical of neurofibromatosis type 1 is reported. Chest roentgenograms and CT-scan showed emphysematous bullae. The patient underwent drainage of the greatest bulla, but death eventually ensured as a consequence of upper digestive bleeding. It can be expected that with the longer survival of neurofibromatosis patients with respiratory troubles, that are generally considered unusual will be recognized more frequently.

Gastrointestinal Hemorrhage↗
PubMedDate not supplied

[Spontaneous level of sister chromatid exchanges in patients with tuberous sclerosis and Recklinghausen's neurofibromatosis].

It is shown that the average number of sister chromatid exchanges (SCE) per one cell in patients with tuberous sclerosis as well as in those with Recklinghausen's neurofibromatosis do not differ from the control. But the non-parametric methods of analysis have revealed differences in the spontaneous level of SCE is patients with tuberous sclerosis, while no such differences were revealed in patients with Recklinghausen's neurofibromatosis.

Adolescent↗
PubMed1989

[Intestinal neurofibromatosis and recurrent digestive hemorrhage].

A case is presented of a woman with Von Recklinghausen's neurofibromatosis and intestinal affectation manifested as recurrent episodes of gastrointestinal bleeding. The literature is commented and a review is made of both the clinical manifestations and evolution of gastrointestinal affectation in this disease which, with other alterations, configure the ample pathologic spectrum that characterizes Von Recklinghausen's neurofibromatosis.

Female↗
PubMed1989

[Neurofibromatosis of the bladder in infancy. 10 years' follow-up].

Urinary tract involvement in neurofibromatosis is rare. We found 51 cases documented in the literature, the majority of these (n = 31) were children. More than half of these (n = 18) developed upper urinary tract obstruction. A report is given of a 10-month-old boy with neurofibromatosis of the bladder. Treatment consisted in radical surgery with cystoprostatectomy and uretero-transureterocutaneostomy. Follow-up of 10 years presents a good result. The different modalities of treatment are reviewed in the literature.

Child↗
PubMed1989

Pitfalls of spinal deformities associated with neurofibromatosis in children.

A study of 116 patients younger than 12 years of age conclusively diagnosed as having neurofibromatosis was undertaken to determine the incidence of significant orthopedic problems. Deformities of the spine comprised the most common skeletal problem. Seventy-four patients (64%) had spinal deformities. Forty-six patients were treated by posterior spinal fusion. Ten required exploration for pseudarthrosis; six were found to have pseudarthrotic defects in the fusion mass. Eight patients had more kyphosis than scoliosis. Only three patients with kyphoscoliosis obtained a solid posterior spinal fusion after multiple surgical procedures. Anteroposterior and lateral roentgenograms of the cervical spine are recommended at the time of initial evaluation of all spinal deformities. Four patients had severe cervical spine deformities, only one of whom was initially identified as having a cervical spine disorder while under treatment for scoliosis. Three of these patients were seen by other surgical services for neck masses. Following removal of posterior elements, the osseous structures were unstable. Only one patient developed spondylolisthesis. Because of the exceedingly high incidence of pseudarthrosis and spinal instability following attempts at spinal fusion, certain guidelines have evolved for the management of these deformities. High-volume computed tomographic myelography in the prone, lateral, and supine positions or magnetic resonance imaging should be performed on all patients prior to surgical treatment. Anterior disc excision and bone graft followed by posterior arthrodesis with instrumentation are indicated if the kyphotic angle is greater than 50 degrees or if scoliosis is greater than 80 degrees. Even combined anterior and posterior arthrodesis operations did not guarantee successful permanent spinal stability in young patients with neurofibromatosis.

Child↗
PubMed1989

[Segmental neurofibromatosis].

Four cases of segmental neurofibromatosis (SNF) are reported. It is a rare entity considered to be a localized variant of neurofibromatosis (NF)-Riccardi's type V. Two cases are male and two female. The lesions are located to the head in a patient and the other three cases in the trunk. No family history nor transmission to progeny were manifested. The rest of the organs are undamaged.

Aged↗
PubMed1989

[Segmental neurofibromatosis. Description of our 2d clinical case and review of the literature].

Segmental neurofibromatosis is characterized by the unilateral and segmental appearance of neurofibromas, schwannomas, plexiform neurofibromas and/or café au lait spots and axillary freckling. The aetiology is not clear but the disorder has been postulated to be secondary to a postzygotic (hence non-transmissable) somatic mutational event. In the present study we describe a 43 year old woman affected by neurofibromas on the left forearm. This is our second report of a case of segmental neurofibromatosis and occurs shortly afterwords the first. To the best of our knowledge only 28 additional cases of this very rare disease have been reported in the literature. Their main features are reviewed.

Adult↗
PubMed1989

Stroke in an infant prior to the development of manifestations of neurofibromatosis.

Although the association of strokes and von Recklinghausen neurofibromatosis (NF-1) in young children is uncommon, it is obviously an important complication of this disorder. The few cases that have been described were reported primarily in the radiological literature. Moreover, most of the children reported were already known to have NF-1 or they had a positive family history for it. We report an infant who, at 7 weeks of age, suffered a stroke with resulting hemiparesis, prior to the development of other manifestations of NF-1. Pediatricians and neurologists need to be aware of this association and of the need for careful follow-up of infants with strokes, with particular attention to signs of neurofibromatosis.

Cerebrovascular Disorders↗
PubMed1989

Neurofibromatosis in Gothenburg, Sweden. II. Intellectual compromise.

The literature is replete with suggestions that patients with neurofibromatosis (NF) in general and von Recklinghausen NF (NF-1) in specific often manifest mild mental retardation. However, intellectual performance in NF-1 has only rarely been the subject of study in a comparatively uniform population; it has been reported mainly in the setting of case histories. In the present material, representing a population-based cohort of Gothenburg, Sweden, it was possible to assess intelligence levels in 71 of the 74 patients originally identified [Samuelsson B, Samuelsson S: Neurofibromatosis 1989;2:6-22]. Thirty-two of the seventy-one patients (45%) showed slight mental retardation and 2 of these were somewhat more retarded than the remainder. This slight mental retardation was usually recognized during the early school years; it did not appear to be progressive. While patients affected with this problem were placed in remedial or special classes in school, these patients generally did not acquire any vocational training. There is reason to suspect that NF-1 itself leads to some impairment of intellectual development in all patients, for the intellectual achievements of those whose intelligence was judged to be within the normal range appeared to fall short of the average. Non of the patients with normal intelligence had passed any academic examination and many showed achievements less than expected based on the achievements of their healthy relatives. In certain families, the NF appeared to be associated with mild mental retardation more than in other families. Mental retardation of a more severe degree, corresponding to special school level or lower, is not typical of NF-1.(ABSTRACT TRUNCATED AT 250 WORDS)

Cohort Studies↗
PubMed1989

[The diagnostic significance of peridurography in examining children with spinal deformities due to neurofibromatosis].

Contrast peridurography which was performed in 12 patients with neurofibromatosis allowed to reveal the contours of the tumour in 2 patients, peridural block in 5 patients and uneven vertebral canal in 3 patients. Only in 2 patients the vertebral canal picture was normal. It points at high information value of peridurography in the examination of the patients with neurofibromatosis with deformations of the spinal column.

Adolescent↗
PubMed1989

Magnetic resonance imaging evaluation of learning difficulties and incoordination in neurofibromatosis.

Areas of increased signal seen on magnetic resonance imaging (MRI) of the brain are frequently present in neurofibromatosis and are considered possible areas of dysplasia or heterotopias. Since Rosman and Pearce [Brain 1967; 90:829-838] have shown that neuronal heterotopias in deep cerebral white matter are associated with mental retardation in neurofibromatosis type 1 (NF-1), we hypothesized that these areas of increased signal seen on MRI should be associated with learning difficulties or incoordination in children with NF-1. Using MRI, we studied 31 children with NF-1 and attempted to correlate the presence of areas of increased signal with learning difficulties or incoordination. We found no association. This suggests that either these areas of increased signal are heterotopias which are not associated with learning difficulties or incoordination, or these areas of increased signal are not heterotopias and are not relevant to the study of learning problems or incoordination in children with NF-1.

Adolescent↗
PubMed1989

Adult hypophosphataemic osteomalacia with Fanconi syndrome presenting in a patient with neurofibromatosis.

A patient is described with neurofibromatosis, increasing walking problems and low back pain. Initially, osteoporosis or pressure caused by a neurofibroma was suspected. However, the progressively increasing alkaline phosphatase activity and hypophosphataemia found during laboratory investigations led to metabolic studies which revealed proximal tubular dysfunction. A bone biopsy showed severe osteomalacia. A diagnosis of hypophosphataemic osteomalacia was made based on the Fanconi-syndrome. The association between hypophosphataemic osteomalacia and neurofibromatosis may be akin to the relationship between this type of osteomalacia and mesenchymal tumours, which has been noticed several times in the literature. The underlying mechanism is unknown.

Fanconi Syndrome↗
PubMed1989

Multiple frontobasal meningoencephaloceles in neurofibromatosis.

A patient is reported who has multiple osseomeningeal defects and bilateral frontobasal encephaloceles in the context of a neurofibromatosis. After frontobasal revision with plastic closure of a cerebrospinal fluid fistula, the rhinoliquorrhea cleared, but there was an aggravation of a preexisting internal hydrocephalus with signs of raised intracranial pressure. The conditions were stabilized after various shunt operations. Additional diagnoses included a cyst (possibly a colloid cyst) in the anterior third ventricle and partial aplasia of the anterior trabecula. The particular problems in this case in relation to the spinal meningoceles already known in neurofibromatosis and spheno-orbital encephaloceles are discussed.

Adult↗
PubMedDate not supplied

[Rare combination of neurofibromatosis and Dandy-Walker syndrome].

Treatment of patients suffering from neurofibromatosis (NF) is aimed, first of all, at the esthetical and functional impairment caused by neurofibromas of the skin, whereas vascular alterations are only rarely given prime consideration in the choice of treatment alternatives. Thus, the removal of an aneurysmic dilatation of the internal carotid artery and its replacement by interposing an autogenous vein graft in a patient with extensive neurofibromatosis of the right neck region and concurrent Dandy-Walker syndrome is reported. The characteristics of this syndrome and the question of a possible relationship between both clinical entities are discussed.

Adult↗
PubMed1989

Neurofibromatosis in childhood: neuropsychological aspects.

Neurological findings, difficulties in reading and writing, and behavior disturbances in 27 children with neurofibromatosis were analyzed. Neurological symptoms such as seizures and motor disturbances were found in 37%. Tumors, mainly optic gliomas, and arachnoidal cysts were seen by computerized tomography in 26%. There was an overall functioning within the average range of intelligence; obvious mental deficiency, however, was found in 11%. Difficulties in reading and writing were present in 41%, and 47% had a school performance below average. Behavior disturbances outside the normal range were present in 28% which is significantly more frequent than in children of a normal population. The high rate of school problems and behavior disturbances indicates that early diagnosis and early counseling concerning behavior treatment and special school education are important issues in the care for children with neurofibromatosis.

Child↗