Cheiro-oral syndrome: A reappraisal of the etiology and outcome

Objective: This is a review of our cases and published literature on cheiro-oral syndrome (COS), to better understand its localization, etiology and outcome. Methods: In addition to our database, we reviewed the medical database (including PUBMED, BIOSIS, EMBASE, and SCOPUS) and other sources, searched by the keyword of “cheiro-oral”. The defi nition of COS was a subjective or an objective sensory disturbance confi ned to the perioral area and the fi nger(s)/hand without a detectable abnormality in mental, motor or cerebellar function. Only cases of COS where the clinicoanatomic correlation could be identifi ed by neuroimaging study, autopsy or stereotatic surgery was included. Results: There were a total of 174 patients; 85 patients from our database, 76 patients from medical database, and 13 patients from other sources. They were 111 men and 63 women. Their age ranged from 12 to 85 years; average being 58.2 years. Stroke is the leading etiology and constituted 74% of the patients. The most common location of lesion was thalamus, followed by pons and cortex. Classical unilateral COS was seen in 81% of patients, atypical COS in 19%. Whereas the lesions were from cortex to cervical spinal cord in unilateral COS, atypical COS was associated with lesions in pons or medulla oblongata. An early deterioration was seen in 16.5% of patients, especially in large cortical infarction and subdural hemorrhage. Structural lesions were found in 85% of patients. Conclusion: Classical unilateral COS do not have a high localizing value, the atypical COS is associated with lesion in pons or medulla. Neurology Asia 2012; 17(1) : 21 – 29 Address correspondence to: Dr. Wei-Hsi Chen, Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, 123 Ta Pei Road, Niao Sung District, Kaohsiung City 833, Taiwan. Tel: 886-7-731-7123 ext. 3399, Fax: 886-7-311-2516, e-mail: [email protected] INTRODUCTION Cheiro-oral syndrome (COS) was fi rst reported in literature at 1914 by Sir Sittig , a German military doctor, who described three young men suffering an acute onset of paresthesia confi ned to their perioral area and ipsilateral fi nger(s)/ hand. Autopsy showed their responsible lesions to be respectively encephalitis, gumma and vascular malformation, located at contralateral postcentral gyrus of the parietal lobe. Since then, COS has received great interest in Europe. Later, cases were also found to have thalamic lesion. Because neuroimaging was not available in fi rst half of last century, COS was thought to be due to involvement of the contralateral parietal lobe or thalamus. In the last 50 years, the rapid advances in intracranial imaging has facilitated the study in clinicoanatomic correlation, and better understanding of etiology and pathogenesis in a broad variety of neurological disorders, including COS. There were a number of published studies on COS from Italy, Japan, Netherland, USA, Taiwan and Korea. In contrast to the traditional concept that COS is localizing and has prognostic value, these studies suggest that COS can involve a wide neuraxis from cortex to medulla oblongata, and clinical deterioration can occasionally be seen. However, most of these studies are based on a single patient or small number of cases. There is yet no comprehensive review of the published literature. In this study, we would like to review of patients with COS, as well as the published literature, to reappraise the etiology and outcome of patients with COS.