TITLE

Clinical sensitivity and specificity of multiple T2-hyperintensities on brain magnetic resonance imaging in diagnosis of neurofibromatosis type 1 in children: diagnostic accuracy study

AUTHOR(S)
Sabol, Zlatko; Rešić, Biserka; Gjergja Juraški, Romana; Sabol, Filip; Kovač Šižgorić, Matilda; Oršolić, Krešimir; Ozretić, David; Šepić-Grahovac, Dubravka
PUB. DATE
August 2011
SOURCE
Croatian Medical Journal;Aug2011, Vol. 52 Issue 4, p488
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
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.
ACCESSION #
67005134

 

Related Articles

  • Evidence for Altered Basal Ganglia-Brainstem Connections in Cervical Dystonia. Blood, Anne J.; Kuster, John K.; Woodman, Sandra C.; Kirlic, Namik; Makhlouf, Miriam L.; Multhaupt-Buell, Trisha J.; Makris, Nikos; Parent, Martin; Sudarsky, Lewis R.; Sjalander, Greta; Breiter, Henry; Breiter, Hans C.; Sharma, Nutan // PLoS ONE;Feb2012, Vol. 7 Issue 2, p1 

    Background: There has been increasing interest in the interaction of the basal ganglia with the cerebellum and the brainstem in motor control and movement disorders. In addition, it has been suggested that these subcortical connections with the basal ganglia may help to coordinate a network of...

  • Unusual radiological picture in eclamptic encephalopathy. Sarma, G.R.K.; Kumar, A.; Roy, A.K. // Neurology India;Mar2003, Vol. 51 Issue 1, p127 

    Presents a letter to the editor about unusual radiological picture in eclamptic encephalopathy. Case of a 20-year-old woman with headache and vomiting of three days duration and three episodes of tonic-clonic seizures; Description of eclampsia; Case of brainstem and basal ganglionic...

  • Neuropathological evaluation of the diencephalon, basal ganglia and upper brainstem in alobar holoprosencephaly. Hayashi, Masaharu; Araki, Satoshi; Kumada, Satoko; Itoh, Masahiro; Morimatsu, Yoshio; Matsuyama, Haruo // Acta Neuropathologica;Mar2004, Vol. 107 Issue 3, p190 

    Holoprosencephaly (HPE) is caused by the impaired cleavage of the embryonic prosencephalon, and in the severest type, alobar HPE, the normally bilateral diencephalon and basal ganglia are fused and tend to incorporate into the upper brainstem. The detailed neuropathological features of HPE...

  • Gamma knife radiosurgery for arteriovenous malformations of basal ganglia, thalamus and brainstem—a retrospective study comparing the results with that for AVMs at other intracranial locations. Kiran, Narayanam Anantha Sai; Kale, Shashank Sharad; Kasliwal, Manish Kumar; Vaishya, Sandeep; Gupta, Aditya; Sharma, Manish Singh; Sharma, Bhawani Shankar; Mahapatra, Ashok Kumar // Acta Neurochirurgica;Dec2009, Vol. 151 Issue 12, p1575 

    The objective of this retrospective study was to study the outcome in patients with basal ganglia, thalamus and brainstem (central/deep) arteriovenous malformations (AVMs) treated with gamma knife radiosurgery (GKS) and to compare the results with that for AVMs at other intracranial locations....

  • Evidence for Altered Basal Ganglia-Brainstem Connections in Cervical Dystonia. Blood, Anne J.; Kuster, John K.; Woodman, Sandra C.; Kirlic, Namik; Makhlouf, Miriam L.; Multhaupt-Buell, Trisha J.; Makris, Nikos; Parent, Martin; Sudarsky, Lewis R.; Sjalander, Greta; Breiter, Henry; Breiter, Hans C.; Sharma, Nutan // PLoS ONE;Feb2012, Vol. 7 Issue 2, p1 

    Background: There has been increasing interest in the interaction of the basal ganglia with the cerebellum and the brainstem in motor control and movement disorders. In addition, it has been suggested that these subcortical connections with the basal ganglia may help to coordinate a network of...

  • Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. Gerards, M.; Sluiter, W.; van den Bosch, B. J. C.; de Wit, L. E. A.; Calis, C. M. H.; Frentzen, M.; Akbari, H.; Schoonderwoerd, K.; Scholte, H. R.; Jongbloed, R. J.; Hendrickx, A. T. M.; de Coo, I. F. M.; Smeets, H. J. M. // Journal of Medical Genetics;Aug2010, Vol. 47 Issue 8, p1 

    Background Leigh syndrome is an early onset, progressive, neurodegenerative disorder with developmental and motor skills regression. Characteristic magnetic resonance imaging abnormalities consist of focal bilateral lesions in the basal ganglia and/or the brainstem. The main cause is a...

  • Magnetization transfer ratio in neuro-Behçet disease. Anik, Yonca; Kural, Zekiye; Demirci, Ali; Akansel, Gür; Aksu, Sibel; Vural, Metin // Neuroradiology;Feb2005, Vol. 47 Issue 2, p108 

    The aim of this study was to determine the contribution of magnetization transfer ratios (MTRs) in detecting disease in normal-appearing brain regions of patients with neuro-Behçet (NB) disease. Thirty-two patients with NB disease were assessed. Fifteen healthy volunteers were examined as the...

  • Acute Lacunar Infarcts in CLIPPERS: Is the Chronic Infiltrative Lymphocytic Perivascular Disease Process to Blame? SAIGAL, GAURAV; QUENCER, ROBERT // Neuroradiology Journal;Dec2013, Vol. 26 Issue 6, p629 

    CLIPPERS (chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids) is a recently describe chronic inflammatory disorder involving the brainstem with characteristic imaging findings. Since it was originally described in 2002, only a handful of cases have...

  • Metoclopramide-induced parkinsonism due to bilateral basal ganglia and brain stem involvement in a patient with laryngeal carcinoma. İnal, Ali; Uzar, Ertuğrul; Kaplan, Muhammed Ali; Küçüköner, Mehmet; Urakcı, Zuhat; Ekici, Faysal; Işıkdoğan, Abdurrahman // Journal of Clinical & Experimental Investigations / Klinik ve De;2012, Vol. 3 Issue 4, p536 

    Parkinsonism and basal ganglion involvement due to antiemetic drugs, such as metoclopramide, is rarely encountered. However, bilateral basal ganglia and brain stem involvement has not yet been reported in patients with drug-induced Parkinsonism.

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics