Manometric study in Kearns-Sayre syndrome

Although swallowing difficulties have been described in patients with Kearn s-Sayre syndrome (KSS), the spectrum of manometric characteristics of dysph agia is not yet well known. Moreover, it is conceivable that a combination of various degrees of swallowing difficulties with different patterns in ma nometric studies exist, each playing a major role in the prognosis, natural history, and quality of life of KSS patients. An 18-year-old girl diagnose d at the age of 5 years with KSS (muscle biopsy) was admitted to our depart ment with an upper respiratory tract infection and dysphagia. Clinical exam ination revealed growth retardation, external ophthalmoplegia, pigmentary r etinopathy, impaired hearing, and ataxia. An electrocardiogram revealed car diac conduction defects (long Q-T), and brain magnetic resonance imaging sh owed abnormalities in the cerebellar hemispheres. A manometric and motility study for dysphagia was conducted and the pharynx and upper esophageal sph incter (UES) resting pressures were similar to control group values, but th e swallowing peak contraction pressure of the pharynx and the closing press ure of the UES were very low and could not promote effective peristaltic wa ves. Relaxation and coordination of the UES were not affected although phar yngeal and upper esophagus peristaltic waves proved to be very low and, con sequently, were practically ineffective. The patient was started on treatme nt comprising a diet rich in potassium, magnesium, and calcium, and oral ad ministration of vitamin D and co-enzyme Q(10) 100 mg daily; she was dischar ged 6 days later with apparent clinical improvement.