RESUMEN
BACKGROUND: This report presents a case of medically refractory dystonia in a pediatric patient successfully treated with bilateral subthalamic nucleus (STN) deep brain stimulation (DBS) while under general anesthesia by using microelectrode recordings (MERs) with intraoperative computed tomography (CT). OBSERVATIONS: The patient was an 18-year-old female with primary dystonia secondary to mitochondrial Leigh syndrome. Her past medical history was significant for complex partial epilepsy and hearing loss treated with cochlear implants. Her cochlear implants precluded anatomical targeting via magnetic resonance imaging. Additionally, the patient could not tolerate awake surgery with MER. The decision was made to proceed with bilateral STN DBS with intraoperative CT with the patient under general anesthesia. The patient's cochlear implants made standard frame placement difficult, so navigation was performed with the Nexframe system. Recordings were obtained with the patient under general anesthesia with ketamine, dexmedetomidine, and remifentanil. At the 3- and 6-month follow-ups, the patient demonstrated marked improvement in dystonia without neurological complications. LESSONS: This is the first case of dystonia secondary to Leigh syndrome treated with DBS. Additionally, the authors describe the novel use of the Nexframe for DBS lead placement in a pediatric patient. This demonstrates that STN DBS with the use of MER and intraoperative CT can be a safe and effective method of treating dystonia in certain pediatric patients.
RESUMEN
Brachial plexus birth palsy (BPBP) is a neurologic injury that can result in mild to full paralysis of the affected upper extremity. In severe cases, nerve surgery is often performed before age 1 year. Several studies report gains in elbow flexion with onabotulinum toxin type A (OBTT-A) injections to the triceps; however, its use in infants is not widely reported. The purpose of this study is to present our experience using these injections before 6 months of age to therapeutically unmask elbow flexion and diagnostically guide surgical decision making.This is a retrospective observational cohort study. The cohort included infants with BPBP who received OBTT-A injection to the triceps before age 6 months. Indications for the injections include trace elbow flexion and palpable co-contraction of the biceps and triceps. Elbow flexion was evaluated using the Toronto Test score. Therapeutic success was defined as an increase in post-injection scores. These scores were then used diagnostically as an indication for surgery if the infant did not achieve full elbow flexion by 8 months. A treatment algorithm for OBTT-A triceps injection was developed based on all treatment options offered to infants with elbow flexion deficits seen in the clinic.Of the 12 infants that received OBTT-A triceps injections, 10 (83%) had improved Toronto test elbow flexion scores post-injection. Gains in elbow flexion once attained were maintained. Of the 9 OBTT-A infants with at least 2 years follow-up, 4 achieved full elbow flexion without surgery; the remainder after surgery. No complications with OBTT-A injections were noted and patients were followed on average 6 years. The average age at time of injection was 4 months (range: 2-5 months). Compared to other treatments given, OBTT-A infants tended to present with more elbow flexion than the 4 infants requiring immediate surgical intervention and less elbow flexion than the 16 infants treated conservatively.OBTT-A injection to the triceps in infants with BPBP before 6 months of age therapeutically improved elbow flexion and diagnostically guided surgical decisions when full elbow flexion was not achieved by 8 months of age with no known complications.