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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression

Fig. 3

A, B A 2.67-year-old boy with genetically confirmed NF1 (NF1 c.3212del (p.A1071fs)). T2 hyperintensity and focal areas of signal intensity (FASI) were noted in the left globus pallidus, right thalamus, pons, left middle cerebellar peduncle, and bilateral cerebellar white matter (arrows). C, D A 2.75-years-old male with genetically confirmed NF1 (NF1 c.95_96insGTAT (p.K33fs)). C Image from whole-body coronal short tau inversion recovery showed plexiform neurofibromas at the bilateral cervical spinal nerve roots with mass effect to the dural sac (arrows). Thoracic scoliosis with right-sided convexity (thick arrow) was also noted. D Axial T2WI of the brain showed bilateral sphenoid dysplasia (more severe in the left side) with anterior bulging of the bilateral temporal lobe and left proptosis

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172