Multiple sclerosis with incidental dysplastic cerebellar gangliocytoma

Case contributed by Dr Derek Smith

Presentation

Presentation with inability to void urine, constipation and lower back pain, following a few days of dysuria. Further history and examination revealed reduced sensation in the right leg and mild bilateral dysmetria. Preserved reflexes. Medical history significant for Cowden's syndrome (previous cutaneous lesions excised).

Patient Data

Age: 45
Gender: Female

No evidence of cauda equina or neural compromise.

High signal area on T2 and STIR sequences at L1 level.

Further imaging to be performed to investigate demyelination.

Further high signal in posterior cord at C3.  No thoracic lesions.

Incidental multi-nodular thyroid goiter.

Multiple periventricular and subcortical lesions with high signal on T2 sequences. Heavy lesion load in posterior corpus callosum. None of the lesions display diffusion restriction and they are non-enhancing with contrast.

Intra-axial left cerebellar lesion (about 4 cm). Minor mass effect. No contrast enhancement but minor restriction. Striated internal appearance but no uptake post-contrast. Given history of Cowden disease, this is likely a low-grade dysplastic cerebellar gangliocytoma (Lhermitte-Duclos-Cowden syndrome).

Case Discussion

This patient was admitted as a surgical emergency and although a case of cauda equina syndrome was excluded, the investigations revealed extensive demyelination through the cord and brain.

An incidental diagnosis of Lhermitte-Duclos disease was also made regarding the cerebellar lesion, and the past history of Cowden syndrome, a condition characterized by multiple hamartomas. In this case, the lesion only required surveillance imaging.

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Case information

rID: 33738
Published: 17th Jun 2015
Last edited: 25th Nov 2018
Inclusion in quiz mode: Included

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