Symptomatic Palatal Tremors in a Rare Treatable Neurometabolic Disorder: A Case Report

Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. Two types of PTs-essential palatal tremor (EPT) and symptomatic palatal tremor (SPT) are described. SPT is caused by a lesion in the triangle of Guillain and Mollaret which is formed by the ipsilateral red nucleus, ipsilateral inferior olivary nucleus and contralateral dentate nuclei. EPT reveals no underlying structural pathology. We describe two consecutive patients with PT-a rare clinical sign in a rare distinct clinical entity cerebrotendinous xanthomatosis (CTX) which is an autosomal recessive neurometabolic disorder characterized by a myriad of neurological signs of progressive ataxia, parkinsonian features pyramidal signs, epilepsy; peripheral neuropathy, and nonneurological features of early cataract, xanthomas and infantile-onset diarrhea. These cases emphasize the expanding phenotype of CTX featuring PTs and suggest that this clinical sign is underdiagnosed in CTX.