Neurofibromatosis最新文献

In this study, a clinical evaluation was carried out for all patients who were at or beyond 20 years of age and known to the health services as cases of neurofibromatosis (NF) and who were resident in Gothenburg, Sweden, as of January 1, 1978. The approach of the study was clinical, with emphasis on the general somatic, psychiatric and genetic aspects of NF. The patients included in the study were ascertained by scrutiny of all available archives of medical records in the area, and by requests to every doctor in the city of Gothenburg to report any possible case of NF known to him or her. This search identified 74 patients with NF living in Gothenburg on the census day. All but 3 of these patients had definite von Recklinghausen NF (NF-1). This represents a prevalence of 1 case of NF in 4,600 adults, which must be considered a minimum frequency estimate. The 74 patients included 35 women with a mean age of 46 (+/- 17) years and 39 men with a mean age of 43 (+/- 14) years. The prevalence of NF was highest in the age range of 40-50 years, while it was significantly reduced in the ages above this range, most probably owing to an excess mortality. Sixty-nine of the original seventy-four patients were personally interviewed and examined, including the 3 without definite NF-1. The patients were classified according to the degree of severity of NF into three categories: mild, moderate and severe. The number of patients in each groups was, respectively, 18, 43 and 13. A detailed description of each patient's pigmentary abnormalities and neurofibromas (number, appearance and localization) was recorded. Findings of osseous dysplastic changes (12-16%), endocrine changes (pheochromocytoma, 3%), malignant disease (sarcoma, 4%), epilepsy (3%) and other somatic diseases were also recorded. Mild mental retardation was present in 45% of the patients. The mental retardation did not appear progressive, and severe retardation was not found. Mental illness occurred in 23 (33%) patients, defined as mild in 8, moderate in 7 and severe in 8. No uniform psychiatric syndrome was found. Depressive syndrome, anxiety state with vegetative dysfunction and organic brain syndrome were most frequently observed. Hostile feelings and autonomic disturbances were the most common symptoms, each found in 50% of all patients. The frequency of abnormal neurological findings, presumably indicating manifestations of NF-1 in the central nervous system, was significantly increased among the patients with mental illness.(ABSTRACT TRUNCATED AT 400 WORDS)

Cerebral ventricular dilation and/or frank hydrocephalus unrelated to brain tumors is not a rare feature of von Recklinghausen neurofibromatosis (NF-1). In our experience, it was observed in 23% of patients consulting for neurological problems. From 1984 to 1989, 30 patients with documented NF-1 were referred to for cranial or spinal magnetic resonance imaging (MRI). In 9 of these patients, clinical features or previous computed tomographic scanning revealed hydrocephalus or ventriculomegaly. One patient had biventricular hydrocephalus (enlarged lateral ventricles), 7 had triventricular hydrocephalus (aqueductal stenosis) and 1 had tetraventricular hydrocephalus (obstruction of the foramina of Magendie and Luschka). MRI showed anomalies in all 9 patients. The importance of MRI for the diagnosis, control and treatment of the hydrocephalus as well as for understanding the embryologic pathogenesis of these conditions is emphasized.

The simultaneous occurrence of neurofibromatosis and a peripheral neuropathy that has the clinical and electrophysiological features of Charcot-Marie-Tooth disease (HMSN I) has rarely been reported. A recent report described patients with HMSN I with hypertrophic lumbosacral nerve roots. We report a patient with compelling evidence for neurofibromatosis who also demonstrates clinical and electrophysiological features of Charcot-Marie-Tooth disease. Abdominal and pelvic CT scan revealed diffusely and symmetrically enlarged lumbosacral nerve roots. These nerve roots were biopsied, and the specimens revealed neurofibromas. Histology, electrophysiological studies, radiology, and clinical appearance of the abnormality in peripheral nerves and lumbosacral nerve roots will be emphasized in this paper. The simultaneous occurrence in our patient of neurofibromatosis and Charcot-Marie-Tooth disease suggests a possible genetic relationship between these two disorders.

We present a case of primary nontumoral aqueductal stenosis associated with neurofibromatosis type 1 (NF-1) in an asymptomatic 11-year-old boy. The diagnosis of hydrocephalus followed the finding of bilateral papilledema at an ocular assessment and the diagnosis of NF-1 was made during hospitalization for the papilledema. Periaqueductal gliosis was suspected on cerebral T2-weighted magnetic resonance imaging (MRI). We believe that the incidence of hydrocephalus due to nontumoral aqueductal stenosis has been underestimated in NF-1. We emphasize the importance of early diagnosis of NF-1 and prompt evaluation in order to recognize this complication. In this regard MRI scanning offers more diagnostic advantages over other investigations. Forty-seven previously described cases have been collected from the literature.

The Neurofibromatosis Clinic of the Children's Hospital Medical Center in Cincinnati, Ohio, is a multidisciplinary clinic which provides comprehensive care for persons affected with neurofibromatosis. Data are presented on 78 patients who fulfill the diagnostic criteria for neurofibromatosis-1. The information reported includes patient characteristics, complications and testing results.

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.