Neurofibromatosis Type 1 in ChildhoodA great deal is now known about neurofibromatosis type 1, particularly as a result of the identification of its causative gene by positional cloning. Effective treatments for its resulting cosmetic disfigurement, impaired cognitive performance and even life-threatening malignancy however sadly remain elusive. As Dr Korf remarks in his Foreword; ‘this book’s cogent and thorough description of neurofibromatosis in children will take its place alongside other major clinical studies of the disorder. (Dr North) has tackled some of the more challenging issues, such as the basis for learning disabilities and the optimal means for early detection of optic gliomas. Her work provides a guide to the clinician and stands as a provocative challenge to the neurofibromatosis research community to further explore the basis of these problems.’
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Contents
MOLECULAR BIOLOGY OF NF1 | 5 |
PATIENT REVIEW | 16 |
COGNITIVE FUNCTION AND ACADEMIC PERFORMANCE | 40 |
COGNITIVE DEFICITS AND MRI T2 SIGNAL ABNORMALITIES | 57 |
THE ROLE OF VISUAL EVOKED | 73 |
MRI AS A DIAGNOSTIC TOOL IN NF1 | 90 |
Other editions - View all
Neurofibromatosis Type 1 in Childhood Kathryn North,International Child Neurology Association No preview available - 1997 |
Common terms and phrases
affected analysis areas of increased associated basal ganglia behaviour brain café-au-lait spots centile chiasm child children with NF1 chromosome 17 cognitive deficits cognitive function complications of NF1 CT scan detected developmental disease complications disorder exon family history FSIQ full scale IQ Genet Gutmann history of NF1 Huson hyperintense identified impaired incidence increased T2 signal individuals with NF1 intensity on MRI intracranial pathology intracranial tumours involving IQ scores learning disability lesions Lisch nodules Listernick macrocephaly malignant mental retardation motor MRI examinations neurofibromatosis type neurofibrosarcomas neuroimaging neurons neuropsychological NF clinic normal optic gliomas optic nerve optic pathway gliomas optic pathway tumours parent patients with NF1 Pediatr performance IQ plexiform neurofibromas present problems protein Recklinghausen reported Riccardi 1992a Schwann cells scoliosis signal on MRI significant study population subtests symptomatic syndrome T₁ T₂ T2 signal intensity T2 weighted images tissues UBO+ group VEPs verbal visual acuity visual loss