Original scientific paper
Clinical sensitivity and specificity of multiple T2- hyperintensities on brain magnetic resonance imaging in diagnosis of neurofibromatosis type 1 in children: diagnostic accuracy study
Zlatko Sabol
; Sabol Outpatient Clinic for Sick Children, Zagreb, Croatia, Department of Pediatrics, University Hospital Zagreb, Clinical Medical Center, Zagreb, Croatia
Biserka Rešić
; Department of Pediatrics, University Hospital Split, Split, Croatia
Romana Gjergja Juraški
; Department of Pediatrics, Sisters of Mercy University Hospital, Zagreb, Croatia
Filip Sabol
; Sabol Outpatient Clinic for Sick Children, Zagreb, Croatia
Matilda Kovač Šižgorić
; Sabol Outpatient Clinic for Sick Children, Zagreb, Croatia
Krešimir Oršolić
; Department of Radiology, Holy Ghost University Hospital, Zagreb, Croatia
David Ozretić
; Clinical Institute of Diagnostic and Interventional Radiology, University Hospital Zagreb, Clinical Medical Center, Zagreb, Croatia
Dubravka Šepić-Grahovac
; Department of Neurology, Clinical Hospital Center Rijeka, Rijeka, Croatia
Abstract
Aim To determine the prevalence, number, and location
of multiple (≥2) T2-hyperintensities on brain magnetic resonance
imaging (MRI) in children with neurofibromatosis
type 1 (NF1) and their correlation with age, and to establish
their sensitivity, specificity, and accuracy for the diagnosis
of NF1 in children, especially in the early age (2-7 years).
Methods We performed a cross-sectional study of 162 patients
with NF1 from Croatian Neurofibromatosis Association
Database and 163 control children between the ages
of 2 and 18 years who underwent brain MRI between 1989
and 2009.
Results Multiple T2-hyperintensities were present in 74%
of NF1 patients and 1.8% of controls. They were mainly located
in the basal ganglia, brainstem, and cerebellum and
were significantly decreased in prevalence and number in
the older age. T2-hyperintensities had excellent diagnostic
accuracy with the area under the receiver operating characteristic
(ROC) curve of 0.849 and 95% confidence interval
(CI) of 0.805-0.886. The diagnostic sensitivity, specificity,
and accuracy rate of T2-hyperintensities for NF1 were
highest in the youngest age (2-7 years): 81% (95% CI 71%-
89.1%), 99% (95% CI 92.3%-100%), and 85.8 (95% CI 83.3-
93.8), respectively.
Conclusion This study strongly suggests the inclusion of
T2-hyperintensities on brain MRI on the list of diagnostic
criteria for NF1, especially in children of early age, when
the clinical penetration of the NF1 gene has not yet been
completely finished.
Keywords
Hrčak ID:
71466
URI
Publication date:
15.8.2011.
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