Neurofibromatosis Type 1 - McGovern Medical School at UTHealth

Neurofibromatosis Type 1

Megan Mont 9/18/2019 Diagnostic Radiology: RAD 4001 Nicholas M. Beckmann, MD

Clinical History

15-year-old male initially seeing PCP for left leg pain while playing soccer. Patient has long standing history of a skin nodule along the posterior left thigh. No other pertinent medical history. Mother has history of neurofibromatosis type 1.

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Lytic lesion with surrounding sclerosis

femur

femur patella

tibia fibula

fibula

tibia

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Vastus medialis

Sartorius Mixed high and low T2

signal

femur

Vastus lateralis

Vastus intermedius

Quadriceps tendon

femur

patella

Biceps femoris

meniscus

T2

Patellar tendon

tibia

Extensor digitorum longus

T2

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PCL Soleus

tibia

Popliteus

Gastrocnemius

Vastus medialis Popliteal artery and vein

Sartorius

Gracilis

Femur (with lesion)

Vastus lateralis

Enhancing skin nodule

Semimembranosus Tibial nerve (with lesion)

Biceps femoris (long head)

Common peroneal nerve (with lesion)

PD

T1 post-contrast

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Femoral artery and vein Vastus medialis

Sartorius Adductor longus

Gracilis

Rectus femoris Femur

Vastus lateralis

Vastus intermedius

Enhancing intermuscular

nodule

Semimembranosus

Sciatic nerve Adductor magnus

Semitendinosus

Biceps femoris (short head)

Biceps femoris (long head)

PD

T1 post-contrast

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Tibialis posterior

Tibia Tibialis anterior

Extensor hallucis longus

Tibial nerve (with lesion)

Flexor hallucis longus

Extensor digitorum longus Fibula Tibialis anterior artery and vein

Peroneal artery and vein

Sural nerve

PD (with lesion)

Peroneus longus et brevis

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Key Imaging Findings

? Lytic lesion in the distal femur metadiaphysis

? X-ray: septations, sclerotic rim ? MRI: Lobulated margins and mixed high and very low T2 signal

? Skin nodule in the posterior distal thigh

? MRI: high signal on proton density images with diffuse avid enhancement

? Hamstring, tibial nerve, and peroneal nerve nodules

? MRI: increased PD signal and avid enhancement

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