Zusammenfassung
Hintergrund
Die Neurofibromatose Typ 1 (NF1) ist eine häufige autosomal-dominant erbliche neuroektodermale Erkrankung. Die Diagnose wird nach den NIH-Konsensus-Kriterien von 1987 gestellt. Bei Kindern gestaltet sie sich schwierig, da sich einzelne Merkmale erst entwickeln.
Patienten und Methoden
28 Patienten mit NF1 im Alter von 6 Monaten–17 Jahren wurden über 7 Jahre nachuntersucht. Dokumentiert wurden Symptome der NIH-Kriterien und weitere Merkmale wie Makrozephalus, Kleinwuchs, Skelettanomalien, zerebrale MRT-Veränderungen und psychomotorische Entwicklung.
Ergebnisse
Café-au-Lait-Flecken und plexiforme Neurofibrome waren bereits zur Geburt bei 68% bzw. 7% der NF1-Patienten vorhanden. Im Kleinkindesalter fand sich häufig ein Makrozephalus (32%) und im Schulalter eine Skoliose (43%). Mit 10 Jahren waren vermehrt kutane Neurofibrome (43%) nachweisbar. 85% der NF1-Patienten zeigten im zerebralen MRT hyperintense Strukturen.
Schlussfolgerung
Bei Kindern und Jugendlichen mit NF1 manifestieren sich einzelne Merkmale bevorzugt in bestimmten Altersabschnitten, sodass neben den NIH-Kriterien weitere Symptome zur Diagnostik herangezogen werden sollten.
Abstract
Background
Neurofibromatosis type 1 (NF1) is an frequent autosomal dominant inherited neuroectodermal disorder. The diagnosis is performed using the NIH Consensus criteria from 1987. In childhood, the diagnosis often seems to be difficult because the symptoms are age dependent.
Patients and methods
A total of 28 NF1 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, cerebral MRI changes, and mental development.
Results
Café-au-lait spots and plexiform neurofibroma existed at birth in 68% and 7% of subjects, respectively. In toddler age, macrocephalus (32%) and at school age scoliosis (43%) were frequently found. Cutaneous neurofibroma (43%) often developed at the age of 10 years. Cerebral MRI revealed hyperintense structures in 85% of patients.
Conclusion
In children and adolescents, NF1-criteria show an age-dependent appearance leading to further diagnostic characteristics.
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Seidel, J., Mentzel, H.J., Eichhorn, A. et al. Neurofibromatose Typ 1 (NF1) im Kindes- und Jugendalter. Monatsschr Kinderheilkd 153, 664–671 (2005). https://doi.org/10.1007/s00112-005-1156-8
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DOI: https://doi.org/10.1007/s00112-005-1156-8