Format

Send to

Choose Destination
Eur J Pediatr. 1997 Jun;156(6):482-7.

Diagnostic delay in neurofibromatosis type 1.

Author information

1
University Hospital Sophia/Dijkzigt, Erasmus University Rotterdam, The Netherlands.

Abstract

Since 1985 a multidisciplinary team in the Sophia Children's University Hospital in Rotterdam provides diagnostic follow up and genetic counseling services for neurofibromatosis type 1 (NF1) patients and their families. Parents of 68 affected children as well as 24 affected parents were interviewed. Of the affected children, 50% and 33% of the affected adults were treated for symptoms related to NF1 before a specific diagnosis was made. Although the disease is fully penetrant by the age of 5 years, 35% of the affected children had not been diagnosed by this age. Parents stated a preference for early diagnosis of NF1. Diagnosis of NF1 did not seem to be a reason to refrain from having children. The general attitude towards prenatal diagnosis was positive; however few parents would actually terminate an affected pregnancy.

CONCLUSION:

Overall delay in diagnosis of NF1 is significant. Knowledge of symptoms should make an early diagnosis possible with beneficial effects for the patient and family members.

PMID:
9208248
DOI:
10.1007/s004310050644
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Springer
Loading ...
Support Center