A diagnostic conundrum

Abstract

We present a 26 year old male with a 6 year history of painful sensory symptoms, weakness and wasting in the legs alongside progressive facial weakness, slurred speech, dysphagia and ophthalmoplegia. There were no neurological symptoms or signs in the upper limbs. Previous medical history included traumatic corneal injury to the left eye in childhood and a cisterna magna choroid plexus papilloma which was removed surgically at age 22.

Investigations localised the pathology to the cranial nerve and pre-ganglionic lumbar nerve roots. A dural meningeal biopsy demonstrated grade 1 choroid plexus papilloma, 4 years after presumed curative excision of the original lesion. This presentation with multifocal peripheral nervous system deficits is due to choroid plexus papilloma drop metastases. We summarise the case and discuss the significance of the neurophysiology and imaging findings contributing to diagnosis.

Keywords: neurooncology; neurophysiology; peripheral neuropathology.

Figure 1. Clinical examination at age 26.

Photographs provided by the patient demonstrate degree of facial (a) and lower limb (b) wasting. Diagramatic representation of ophthalmoparesis is shown in (c).

Figure 2. Anatomy of pre and post-ganglionic pathology

Figure 3. MRI imaging.

Sagittal FLAIR (a) and post-gadolinium axial T1w (b) images of the brain, show a mildly enhancing, FLAIR hyperintense extra-axial lesion (*) centred on the fourth ventricle. Sagittal T2w (c) and post-gadolinium sagittal T1w (d) images of the thoracolumbar spine show nodularity and enhancement along the distal spinal cord and cauda equina. High resolution T2w (e) and post-gadolinium coronal T1w (f) images at the level of the internal auditory canals, demonstrate nodularity and enhancement (arrows) relating to the 7^th and 8^th nerve complexes bilaterally.

Figure 4. Histology from fourth ventricular (resected age 23) and lumbar spine lesion (resected aged 26).

Low power view of the resected lesion from the fourth ventricle foramen magnum (a) and lumbar intradural biopsy (c) showing a papillary neoplasm with identical appearances. High power view images of the fourth ventricle (b) and lumbar intradural (d) lesions demonstrating delicate fibrovascular tissue cores lined by a single layer of epithelial cells with inconspicuous mitotic activity, absent nuclear pleomoprhism and no necrosis.