摘要
Background. Neurofibromatosis type 1 (NF1) is an frequent autosomal dominant i nherited neuroectodermal disorder. The diagnosis is performed using the NIH Cons ensus criteria from 1987. In childhood, the diagnosis often seems to be difficul t because the symptoms are age dependent. Patients and methods. A total of 28 NF 1 children and adolescents aged from 6 months to 17 years were investigated over 7 years. Distinct symptoms were documented for the NIH criteria complimented by further signs such as macrocephaly, short stature, skeletal abnormalities, cere bral MRI changes, and mental development. Results. Café-au-lait spots and ple xiform neurofibroma existed at birth in 68%and 7%of subjects, respectively. In toddler age, macrocephalus (32%) and at school age scoliosis (43%)-were freq uently found. Cutaneous neurofibroma (43%) often developed at the age of 10 yea rs. Cerebral MRI revealed hyperintense structures in 85%of patients. Conclusion . In children and adolescents, NF1-criteria show an age-dependent appearance l eading to further diagnostic characteristics.
Background. Neurofibromatosis type 1 (NF1) is an frequent autosomal dominant i nherited neuroectodermal disorder. The diagnosis is performed using the NIH Cons ensus criteria from 1987. In childhood, the diagnosis often seems to be difficul t because the symptoms are age dependent. Patients and methods. A total of 28 NF 1 children and adolescents aged from 6 months to 17 years were investigated over 7 years. Distinct symptoms were documented for the NIH criteria complimented by further signs such as macrocephaly, short stature, skeletal abnormalities, cere bral MRI changes, and mental development. Results. Café-au-lait spots and ple xiform neurofibroma existed at birth in 68%and 7%of subjects, respectively. In toddler age, macrocephalus (32%) and at school age scoliosis (43%)-were freq uently found. Cutaneous neurofibroma (43%) often developed at the age of 10 yea rs. Cerebral MRI revealed hyperintense structures in 85%of patients. Conclusion . In children and adolescents, NF1-criteria show an age-dependent appearance l eading to further diagnostic characteristics.
