[Neurofibromatosis type 1 and associated clinical abnormalities in 27 children]

(Neurofibromatose Typ 1 und assoziierte Krankheiten bei 27 Kindern und Jugendlichen.)

Full Abstract

Neurofibromatosis type 1 is the most common of the phakomatoses and the clinical follow-up is an interdisciplinary challenge. The data of 27 patients with NF1 were systematically reviewed and compared to data from the literature. All of our patients had clinical signs of NF1. Besides the classic criteria café-au-lait spots (100%), freckling (48,1%), positive family history (44,1%), neurofibromas (40,7%), Lisch nodules (22,2%) and optic pathway tumors (22,2%) there were developmental delay (40,7%), macrocephaly (33,3%), strabism (29,6%), scoliosis (18,5%), epilepsy (14,8%), pubertal anomalies (14,8%), short stature (11,1%) and tics. Morphologically, CNS hamartomas (55,5%), astrocytomas (22,2%) and one pheochromocytoma became apparent. Special findings consist of one aneurysm of internal carotic arteria, juvenile xanthogranulomas, a case of pulmonary stenosis and an intracardial tumor. Four new mutations in the NF1 gene were found. Regular screening of optic glioma with MRI had no clinical significance. In contrast to other authors, one of our patients with optic glioma showed clinical progress after twelve years of age. The detection of astrocytomas led only to therapeutic consequences, when clinical signs or symptoms occurred. As with other authors, we found no potential for CNS hamartoma to proliferate. In three cases with pubertal anomalies we found CNS gliomas, which indicates the need for MRI. The expense of screening, apart from clinical surveillance, seems inadequate in relation to clinical relevance and costs. We describe four new mutations in the NF1 gene; there have been no specific genotype-phenotype correlations. Neurofibromatosis type 1 and associated clinical abnormalities in 27 children.

Author information

Author/s: Syrbe, S (S); Eberle, K (K); Strenge, S (S); Bernhard, M K (MK); Herbertz, S (S); Bierbach, U (U); Hirsch, W (W); Froster, U G (UG); Kiess, W (W); Merkenschlager, A (A);

Affiliation: Universitätsklinik für Kinder und Jugendliche Leipzig, Leipzig. steffen.syrbe(-atsign-)medizin.uni-leipzig.de

Journal and publication information

Publication Type: Comparative Study; English Abstract; Journal Article

Journal: Klinische Pädiatrie (Klin Padiatr), published in Germany. (Language: ger)

Reference: -2007 Nov-Dec; vol 219 (issue 6) : pp 326-32

Dates: Created 2008/01/08; Completed 2008/02/25;

PMID: 18183640, status: MEDLINE (last retrieval date: 2/18/2009, IMS Date: )

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