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Neurofibromatose Typ 1 (NF1) im Kindes- und Jugendalter

Merkmalsausprägung, Diagnostik- und Therapieoptionen

Neurofibromatosis type 1 (NF1) in childhood and adolescence

Manifestation and implications for diagnostics and treatment

  • Übersicht
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Monatsschrift Kinderheilkunde Aims and scope Submit manuscript

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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Authors and Affiliations

  1. Klinik für Kinder- und Jugendmedizin, Friedrich-Schiller-Universität , Jena

    J. Seidel, A. Eichhorn, A. Casten, E. Kauf, J. Herrmann & F. Zintl

  2. Institut für Diagnostische und Interventionelle Radiologie, Klinikum, Friedrich-Schiller-Universität, Jena

    H. J. Mentzel

  3. Klinik für Kinder- und Jugendmedizin, SRH Wald-Klinikum Gera gGmbH, Akademisches Lehrkrankenhaus der Universität Jena, Straße des Friedens 122, 07548, Gera

    J. Seidel

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  1. J. Seidel
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Correspondence to J. Seidel.

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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

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