Neurofibromatosis Type 1: Review of the First 200 Patients in an Australian Clinic

Journal of Child Neurology - Tập 8 Số 4 - Trang 395-402 - 1993
Kathryn N. North1
1Department of Neurology, The Children's Hospital, Camperdown, Sydney, Australia

Tóm tắt

Neurofibromatosis type 1 is a common multisystem disorder, best managed in a multidisciplinary clinic. In 1991, the first Australian neurofibromatosis clinic was established at the Children's Hospital, Camperdown, and the clinical characteristics of the first 150 families are reviewed. Two hundred individuals were assessed; there was an equal sex distribution, and 55% of cases were sporadic. Advanced paternal age appeared to predispose to new mutations in the neurofibromatosis gene. Café-au-lait spots and axillary freckling were important to the diagnosis of neurofibromatosis type 1 during childhood, and neurofibromas and Lisch nodules, although often not appearing until after puberty, were present in almost all patients over 30 years of age. Short stature (27%), macrocephaly (43%), scoliosis (20.5%), and learning disabilities (45%) were common associated features. The prevalence of disease complications was similar to the major US and European studies. (J Child Neurol 1993;8:395-402).

Từ khóa


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Thông tin
Thông tin xuất bản

Journal of Child Neurology

Tập 8 Số 4

395-402

Thông tin tác giả