AimTo 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).MethodsWe 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.ResultsMultiple 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.ConclusionThis 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.

An intradural, intramedullary lipoma originating within the cervicothoracic cord with significant extension into the posterior fossa is reported. The lipoma was found incidentally by CT scan at the infant’s age of 2 days. Follow-up studies by CT and MRI were performed on several occasions. Because of hydrocephalus, VP shunting was performed. After shunting and shunt revisions, surgery of lipoma was performed at the age of 2 years. Posterior fossa craniectomy and laminectomy from C1 to T4 revealed a lipoma, which was maximally reduced. Six months after surgery, the child was well and showed good recovery.

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