Author(s): Roya Vakili*, Lekaa Elhajjmoussa, Barzin Omidi-Shal, Kim Blake
Objective: The purpose of this case report is to highlight the successful treatment of a patient with Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness, (CHARGE syndrome) using a Vagal Nerve Stimulator (VNS). Background: This is the first documented case report, to the authors' best knowledge, for a patient with CHARGE syndrome, epilepsy, autism and Postural Orthostatic Tachycardia Syndrome (POTS) that was successfully treated with an implanted VNS therapeutic device. Case presentation: A 25-year-old young lady diagnosed with CHARGE syndrome, drug-resistant epilepsy and Postural Orthostatic Tachycardia Syndrome (POTS) underwent successful treatment with a Vagal Nerve Stimulator (VNS) implantation. Prior to VNS implantation, patient experienced one to two tonic-clonic seizures a year, partial seizures weekly and daily POTS-related symptoms. Patient was having frequent lightheadedness and syncope spells due to a rapid heart rate and low blood pressure. POTS-related events severely impacted her quality of life. The VNS device was programmed to detect and send appropriate stimulation anytime the heart rate exceeded 20% of the patient’s normal baseline. Data from the VNS device revealed frequent stimulation was triggered, mostly during daytime activities due to elevated heart rate. Over the subsequent two years’ post-implantation, her seizures and POTS-related events were controlled effectively. Following the VNS implantation, the patient became more active, alert and communicative. Patient was able to verbally say words and was unable prior. Improvements in the patient’s disposition are believed to be secondary to parasympathetic stimulation, adequate heart rate control, in addition to behavioral changes and other benefits via her implanted VNS. Conclusion: VNS showed positive results in improving the patient's quality of life and managing her diverse symptoms, including dysautonomia, POTs, cognitive functioning as well seizure control.
