Inferior olivary hypertrophy and palatal tremor in cerebrotendinous xanthomatosis.

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare lipid storage disorder, and palatal tremor, as well as inferior olivary hypertrophy in its clinical spectrum, is exceptional. A man in his 30s who presented with bilateral lower limb weakness and spasticity, progressively enlarging swelling in bilateral Achilles region and a history of intellectual disability and childhood bilateral cataracts was found to have a palatal tremor on examination and inferior olivary hypertrophy on neuroimaging. This case demonstrates some of the classical clinical and neuroimaging findings, as well as some uncommon features associated with CTX.