Neurofibromatosis type 2

Case contributed by Dr Nikola Todorovic

Presentation

Left calf lump. Several similar, smaller lumps were noticed behind the right ear, on the right arm, on her back and on her left gluteal region.

Patient Data

Age: 35 years
Gender: Female
Ultrasound

Ultrasound showing (right arm and left gluteal region lesions are shown)  oval hypoechogenic well-circumscribed lesions with slight posterior enhancement.

 

Photo

The soft tumor behind the patient's ear. Small black/blue lesion on her ear.

MRI

MRI shows a cystic mass in the anterior compartment, showing high signal intensity on T2W and intermediate signal intensity on T1W, with slightly inhomogenous postcontrast enhancement.

MRI

The decision was made for further examinations. The patient also recollected having a sometimes strange feeling in her ears, like "train going through her head" and that her mother's brother was operated after sudden hearing loss.

Bilateral internal acoustic meatus expansile lesions showing isointensity on precontrast series with homogenous enhancement after contrast administration.

Right frontal parafalcine extra-axial expansile lesion consistent with meningioma.

Also, two small lesions were noticed in the left orbit, in differential diagnosis may be consistent with schwannomas.

An expansile lesion also detected in the spinal canal (described on the spinal series).

MRI

An expansile intradural extramedullary lesion in the level od C3-4 posteriorly on the left, narrowing spinal canal, similar in the level T11-12, both consistent with meningioma or schwannoma.

Two intramedullary lesions, bigger in the level of T6 isointense on precontrast series, with inhomogenous postcontrast enhancement, with a fusiform widening of the central canal, and similar, smaller in the level of T4, both consistent with ependymoma.

A paravertebral lesion in the level T4-7, on the right, consistent with a schwannoma.

Several hyperintense extraforaminal lesions in the lumbosacral segment, on the back, right arm, left gluteal region and also in the left brachial plexus.

Innumerable small lesions in the cauda equina, consistent with schwannoma.

Multiple liver and kidney cysts.

Case Discussion

The patient went on for surgical excision of the anterior compartment of the knee. 

The histological report was of a schwannoma.

Due to histology result, and the fact there were more similar lesions, the decision was made for further examinations. The patient also recollected having a sometimes strange feeling in her ears, like "train going through her head" and that her mother's brother was operated after sudden hearing loss.

Due to the histology result, anamnestic data and the imaging findings this is most probably a case of neurofibromatosis type 2.

 

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Case information

rID: 69323
Published: 16th Dec 2019
Last edited: 17th Dec 2019
Inclusion in quiz mode: Included