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Patient History
22 mo old M with NF1 diagnosed clinically by
presence of >20 caf au lait spots and paternal
hx, confirmed with genetic testing
Met developmental milestones up to 1 year of age
Now presents with increasing head size per
parents, speech delay and wide based gait
Rare R eye deviation per parents
Hx of 1 (possibly febrile?) seizure, seen at OSH
Physical Exam
VITALS: T: 36.3 P: 98 RR: 20 BP: 105/60
Growth: L 47.3%ile, W 22.2%ile, HC 100%ile
Gen: alert, active, NAD, non-verbal
HEENT: macrocephaly, +Lisch nodules,
PERRL, EOM full, no oral/pharyngeal lesions, no
LAD
Resp: CTAB, no increased WOB
CV: RRR, S1 + S2, no murmurs
Physical Exam
Abd: soft, NTND, no organomegaly
Ext: 3 x 4mm subQ firm nodule on lateral
R forearm, full ROM in b/l upper and lower
extremities
Skin: >20 caf au lait spots, no swelling,
masses, pallor or rash
Neuro: motor, sensory and coordination
grossly nl, no ataxia or nystagmus, CN intact,
optic discs nl, wide but steady gait
Axial T1 precontrast
Coronal T2
pre-contrast
Axial T1
postcontrast
Coronal
T1 postcontrast
R para-sagittal T1 postcontrast
Neurofibromatosis 1
Hereditary AD neuro-cutaneous
disorder affecting 1:2500
Variable expression but 100% penetrance
Mutation of neurofibromin, a tumor suppressor on chr. 17
Clinical Symptoms
Caf au lait spots, axillary/inguinal
freckling, dermal neurofibromas
Lisch nodules (iris hamartomas)
Optic and other CNS gliomas, pheochromocytoma, carcinoid
tumors, plexiform neurofibromas, malignant peripheral nerve
sheath tumors
Bowing of long bone, sphenoid wing dysplasia
Imaging in NF-1
Low threshold for MRI due to increased CNS tumor
risks
Focal areas of signal intensity (FASI) often in basal ganglia
or corpus callosum, no contrast-enhancement
Optic nerve glioma screening and serial monitoring
Progressive sphenoid wing dysplasia
Dural calcification
References
Hasso, A. N., et al. "Orbits, vision, and visual loss. American College of Radiology.
ACR Appropriateness Criteria." Radiology 215 (2000): 579-587.
Balcer LJ, Liu GT, Heller G, et al. Visual loss in children with neurofibromatosis type 1
and optic pathway gliomas: relation to tumor location by magnetic resonance
imaging. Am J Ophthalmol. 2001;131(4):442-445.
Van Es, S., North, K. N., McHugh, K., & De Silva, M. (1996). MRI findings in children
with neurofibromatosis type 1: a prospective study. Pediatric radiology, 26(7), 478487.
Schindera, Christina, et al. "Macrocephaly in neurofibromatosis type 1: a sign post for
optic pathway gliomas?." Child's Nervous System 27.12 (2011): 2107-2111.
Blanchard, G., Lafforgue, M. P., Lion-Franois, L., Kemlin, I., Rodriguez, D.,
Castelnau, P., ... & Chaix, Y. (2016). Systematic MRI in NF1 children under six years
of age for the diagnosis of optic pathway gliomas. Study and outcome of a French
cohort. European Journal of Paediatric Neurology,20(2), 275-281.
Avery, R. A., Mansoor, A., Idrees, R., Biggs, E., Alsharid, M. A., Packer, R. J., &
Linguraru, M. G. (2016). Quantitative MRI criteria for optic pathway enlargement in
neurofibromatosis type 1. Neurology, 10-1212.