Top

Published in:

Open Access 01-12-2018 | Case report

Medullary unidentified bright objects in Neurofibromatosis type 1: a case series

Authors: Alessandra D’Amico, Federica Mazio, Lorenzo Ugga, Renato Cuocolo, Mario Cirillo, Claudia Santoro, Silverio Perrotta, Daniela Melis, Arturo Brunetti

Published in: BMC Pediatrics | Issue 1/2018

Abstract

Background

In Neurofibromatosis type 1, cerebral Unidentified Bright Objects are a well-known benign entity that has been extensively reported in the literature. In our case series, we wish to focus on a further possible location of such lesions, the spinal cord, which we have defined as medullary Unidentified Bright Objects. These have been, to our knowledge, scarcely described in previous works.

Case presentation

We report the cases of 7 patients with medullary Unidentified Bright Objects in Neurofibromatosis type 1 that we have followed for up to 9 years in our Regional Referral Center for Neurofibromatosis. In all of our patients, these lesions were completely asymptomatic and reported on Magnetic Resonance exams the patients underwent for other clinical indications.

Conclusions

The aim of our work is to increase awareness of the possibility of medullary Unidentified Bright Objects in Neurofibromatosis type 1 patients, which can simulate neoplastic lesions, suggesting a more conservative approach in these cases.

Evans DG, Howard E, Giblin C, et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet. 2010;Part A 152A(2):327–32.CrossRef

Moore BD 3rd, Slopis JM, Jackson EF, et al. Brain volume in children with neurofibromatosis type 1: relation to neuropsychological status. Neurology. 2000;54(4):914–20.CrossRefPubMed

Cutting LE, Koth CW, Burnette CP, et al. Relationship of cognitive functioning, whole brain volumes, and T2-weighted hyperintensities in neurofibromatosis-1. J Child Neurol. 2000;15(3):157–60.CrossRefPubMed

Steen RG, Taylor JS, Langston JW, et al. Prospective evaluation of the brain in asymptomatic children with neurofibromatosis type 1: relationship of macrocephaly to T1 relaxation changes and structural brain abnormalities. AJNR Am J Neuroradiol. 2001;22(5):810–7.PubMed

Greenwood RS, Tupler LA, Whitt JK, et al. Brain morphometry, T2-weighted hyperintensities, and IQ in children with neurofibromatosis type 1. Arch Neurol. 2005;62(12):1904–8.CrossRefPubMed

Rosenbaum T, Engelbrecht V, Krölls W, et al. MRI abnormalities in neurofibromatosis type 1 (NF1): a study of men and mice. Brain and Development. 1999;21(4):268–73.CrossRefPubMed

DeBella K, Poskitt K, Szudek J, et al. Use of "unidentified bright objects" on MRI for diagnosis of neurofibromatosis 1 in children. Neurology. 2000;54(8):1646–51.CrossRefPubMed

Braffman BH, Bilaniuk LT, Zimmerman RA. The central nervous system manifestations of the phakomatoses on MR. Radiol Clin N Am. 1988;26(4):773–800.PubMed

Smirniotopoulos JG, Murphy FM. The phakomatoses. AJNR Am J Neuroradiol. 1992;13(2):725–46.PubMed

10.

Bognanno JR, Edwards MK, Lee TA, et al. Cranial MR imaging in neurofibromatosis. AJR Am J Roentgenol. 1988;151(2):381–8.CrossRefPubMed

11.

DiPaolo DP, Zimmerman RA, Rorke LB, et al. Neurofibromatosis type 1: pathologic substrate of high-signal-intensity foci in the brain. Radiology. 1995;195(3):721–4.CrossRefPubMed

12.

Billiet T, Mädler B, D'Arco F, et al. Characterizing the microstructural basis of "unidentified bright objects" in neurofibromatosis type 1: a combined in vivo multicomponent T2 relaxation and multi-shell diffusion MRI analysis. Neuroimage Clin. 2014;4:649–58.CrossRefPubMedPubMedCentral

13.

Tortori-Donati P, Rossi A. Pediatric Neuroradiology. Brain, Head and Neck, Spine. Springer 2005;777.

14.

Cheng H, Shan M, Feng C, et al. Spinal cord ependymoma associated with neurofibromatosis 1: case report and review of the literature. J Korean Neurosurg Soc. 2014;55(1):43–7.CrossRefPubMedPubMedCentral

15.

Hayashi Y, Nakada M, Mohri M, et al. Ganglioglioma of the thoracolumbar spinal cord in a patient with neurofibromatosis type 1: a case report and literature review. Pediatr Neurosurg. 2011;47(3):210–3.CrossRefPubMed

16.

Giussani C, Isimbaldi G, Massimino M, et al. Ganglioglioma of the spinal cord in neurofibromatosis type 1. Pediatr Neurosurg. 2013;49(1):50–4.CrossRefPubMed

17.

Katz BH, Quencer RM. Hamartomatous spinal cord lesion in neurofibromatosis. AJNR Am J Neuroradiol. 1989;10(5 Suppl):S10.

Title: Medullary unidentified bright objects in Neurofibromatosis type 1: a case series
Authors: Alessandra D’Amico
Federica Mazio
Lorenzo Ugga
Renato Cuocolo
Mario Cirillo
Claudia Santoro
Silverio Perrotta
Daniela Melis
Arturo Brunetti
Publication date: 01-12-2018
Publisher: BioMed Central
Published in: BMC Pediatrics / Issue 1/2018
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-018-1067-1

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Medullary unidentified bright objects in Neurofibromatosis type 1: a case series

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Case presentation

Conclusions

Please log in to get access to this content

Other articles of this Issue 1/2018

HIV-1 transmission and survival according to feeding options in infants born to HIV-infected women in Yaoundé, Cameroon

Pediatric severe asthma: a case series report and perspectives on anti-IgE treatment

Disclosure to HIV-seropositive children in rural Zambia

Newborn colonization and antibiotic susceptibility patterns of Streptococcus agalactiae at the University of Gondar Referral Hospital, Northwest Ethiopia

Leisure time physical activity in 9- to 11-year-old children born moderately preterm: a cohort study

The “Petechiae in children” (PiC) study: evaluating potential clinical decision rules for the management of feverish children with non-blanching rashes, including the role of point of care testing for Procalcitonin & Neisseria meningitidis DNA – a study protocol