engleski

Value of multiple T2-hyperintensities on brain MRI as a diagnostic criterion for neurofibromatosis 1 in children: Comparison of the diagnostic accuracy of T2-hyperintensities versus the National Institutes of Health criteria

Objective Neurofibromatosis 1 (NF1) is autosomal dominant inherited disorder often difficult to diagnose in children besause of its age-dependent presentation. The early diagnosis using National Intitutes of Health (so called NIH-criteria) cannot be made on the basis of routine clinical and ophthalmological examinations in all children, especially in patients of early age and in sporadic cases. T2-hyperintensities on brain MRI has been suggested as a new diagnostic sign. The aim of this study was to compare the degree of diagnostic accuracy T2-hyperintensity versus diagnostic accuracy NIH diagnostic changes. Methods We performed a cross-sectional study of 162 children with NF1 from Croatian Neurofibromatosis Association Database and 163 control children between the ages of 2 and 18 years who underwent brain MRI during twenty year period. In this study we used the basic reference standard – NIH diagnostic criteria for NF1 to determine or exclude a definitive clinical diagnosis of NF1. Results Multiple T2- hyperintensities on brain MRI had excellent diagnostic accuracy with the area under the ROC curve of 0.849, estimated on the whole group subjects aged 2–18 years. The diagnostic accuracy of T2-hyperintensities for NF1 were highest in the youngest age (2–8 years). At that age diagnostic accuracy of multiple T2-hyperintensities was significantly higher than diagnostic accuracy of majority of NIH-diagnostic signs – neurofibromas, freckling in the axillary or inguinal region, Lisch nodules, optic gliomas, a distinctive osseous lesions (p<0.001), respectively, except for multiple café au lait spots which had significantly the highest diagnostic accuracy than all above mentioned changes (P <0.001). Conclusion Significant higher levels of multiple T2- hyperintensities in comparison to most of the NIH diagnostic criteria, especially in the early children's age, confirm of justifiableness of their inclusion in the major NF1 diagnostic criteria and the need to revise the current NIH diagnostic criteria NF1 in children.

T2-hyperintensities ; brain MRI ; neurofibromatosis 1 ; children ; diagnostic criteria

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