Resident, Department of Neurology, Madras Medical College, Chennai, Tamil Nadu, India.
Assistant Professor, Department of Neurology, Madras Medical College, Chennai, Tamil Nadu, India, Corresponding Author.
J Assoc Physicians India. 2024 Aug;72(8):90-92. doi: 10.59556/japi.72.0476.
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.
腭震颤（PT）是软腭的一种不自主、有节奏和振荡性的运动。描述了两种类型的 PT-特发性腭震颤（EPT）和症状性腭震颤（SPT）。SPT 是由 Guillain 和 Mollaret 三角内的病变引起的，该三角由同侧红核、同侧下橄榄核和对侧齿状核组成。EPT 没有显示潜在的结构病理学。我们描述了两个连续的腭震颤患者-这是一种罕见的临床体征，在一种罕见的独特的临床实体脑腱黄瘤病（CTX）中，这是一种常染色体隐性神经代谢疾病，其特征是进行性共济失调、帕金森特征、锥体束征、癫痫；周围神经病，以及白内障、黄瘤和婴儿期腹泻的非神经特征。这些病例强调了 CTX 以腭震颤为特征的扩展表型，并表明该临床体征在 CTX 中被低估了。
