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Neurofibromatosis 1: A Novel NF1 Mutation in an 11-Year-Old Girl With a Giant Cell Granuloma

St. Anna Children's Hospital

Katharina Wimmer, PhD

Institute of Medical Biology University of Vienna Medical School

Peter Wiesbauer, MD

St. Anna Children's Hospital

Michael Rasse, MD

Department for Oral, Maxillo- and Plastic Surgery of the Face University of Vienna Medical School

Susanna Lang, MD

Institute of Clinical Pathology University of Vienna Medical School

Andrea Müllner-Eidenböck, MD

Department of Ophthalmology University of Vienna Medical School

Herwig Frisch, MD

Department of Pediatrics University of Vienna Medical School Vienna, Austria, Herwig.Frisch{at}akh-Wien.ac.at.

We report an 11-year-old girl who presented with a painless unilateral enlargement of the nasal bridge. Because of multiple café-aulait spots and a positive family history, neurofibromatosis 1 was diagnosed. On a computed tomographic scan, a unilocular radiolucency measuring 1.2 x 2 cm was seen in the anterior wall of the maxillary sinus, which was surgically removed. Histology revealed a central giant cell granuloma. Hyperparathyroidism, which can present with an osseous tumor and similar histology, was excluded. Molecular analysis uncovered a novel splice mutation (A4268G) in this neurofibromatosis 1 family, affecting our patient as well as her mother and brother. This article focuses on the variability of the neurofibromatosis 1 phenotype in this family and the possible relationship between central giant cell granuloma and neurofibromatosis 1. (J Child Neurol 2003;18:371—373).

Journal of Child Neurology, Vol. 18, No. 5, 371-373 (2003)
DOI: 10.1177/08830738030180051901


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