Case report: Chronic pain in a pediatric patient with late-onset pompe disease.

Pompe disease (PD) is a rare inherited metabolic disorder of deficient or absent acid alpha-glucosidase (GAA), resulting in defective lysosomal glycogen catabolism. Muscle weakness, respiratory deficiency and gastrointestinal symptoms are commonly monitored in PD. However, pain and associated psychological symptoms are less focused upon. A pediatric patient with late-onset Pompe disease (LOPD) comorbid with chronic pain is presented. Symptoms of pain in the feet were first reported between 6 and 7 years of age and were attributed to growing pains. Following progression of lower body pain, weakness, fatigue, and difficulties with ambulation, a thorough clinical assessment including genetic testing was performed, which led to a diagnosis of LOPD at 9 years of age. ERT with recombinant human alglucosidase alfa was subsequently started. The patient's clinical status is compounded by depressed mood, anxiety, and attention deficit hyperactivity disorder, which may further exacerbate pain. A multidisciplinary pain treatment approach consisting of orthopedics, physical therapy, and psychosocial therapy aimed at enhancing pain coping skills is described for this LOPD patient. This case highlights the need for a greater understanding of pain generation and identification of optimized pain treatment approaches in children with LOPD that can be implemented alongside ERT.

Transforaminal lumbar puncture for spinal anesthesia or novel drug administration: a technique combining C-arm fluoroscopy and ultrasound.

BACKGROUND: Lumbar puncture (LP) may be challenging for patients with scoliosis and other conditions following previous posterior fusion and instrumentation from thoracic to sacral levels. Interventional radiologists have described CT approaches to transforaminal LP. We hypothesized that combined C-arm fluoroscopy and ultrasound could be a feasible approach to transforaminal LP for interventional pain physicians and regional anesthesiologists. METHODS: With institutional review board approval, we reviewed medical records and imaging of six patients with spinal muscular atrophy and prior spine fusion. Non-cutting needles of 24 or 25 gage were advanced through 20-gage introducers. Prior imaging guided selection of a preferred side and spinal level. Initial procedures were performed in the interventional radiology suite. Subsequent procedures were performed in an operating room (OR). We report on technical success and complications and describe a case using this approach for spinal anesthesia. RESULTS: Six patients underwent a total of 54 transforaminal LPs, including 51 for administration of the antisense oligonucleotide nusinersen, 2 for myelography, and 1 for spinal anesthesia; 45 of these procedures were performed using OR C-arm fluoroscopy and ultrasound. Transient paresthesias and short-term headaches occurred; none required intervention. No other complications were noted. CONCLUSIONS: Transforaminal LP appears technically feasible for patients with full-spine fusions using a straight-needle approach with combined fluoroscopy and ultrasound guidance. Larger case series and prospective studies may better define the success rates, risks, and benefits of this approach relative to alternative approaches to intrathecal access for patients with previous long-segment posterior spine fusions.

Confirmation of success rate of landmark-based caudal blockade in children using ultrasound: A prospective analysis.

BACKGROUND: Caudal epidural anesthesia is a frequently performed regional anesthesia block in infants and young children. Traditional landmark-based blind needle insertion remains the norm with no immediate, objective method to determine the presence of local anesthetic in the epidural space. Increasingly, ultrasound-imaging is used in pediatric regional anesthesia with demonstrated improvements in block efficacy and efficiency. The value of ultrasound-imaging in confirming success rate of traditional caudal placement is not well defined. AIM: To assess the success rate of conventional landmark-based caudal technique using ultrasound-imaging. METHODS: Prospective observational study of 30 children ages 1 month to 7 years undergoing surgical procedures with consent for caudal blockade. Provider success rate of caudal blockade placed by landmark technique was measured using ultrasound-imaging of needle tip and local anesthetic flow in the epidural space. RESULTS: Ultrasound-imaging demonstrated 80% success to correct positioning of the needle tip and local anesthetic in the epidural space. Failure was associated with decreasing experience and presence of anatomic variances. All improperly positioned needles were subsequently successfully positioned using real-time ultrasound-imaging. Mean time for confirmatory ultrasound-imaging (SD; range) was 1 minute (0.3; 1-3). CONCLUSION: The use of ultrasound-imaging can be used to identify proper needle placement in the sacral epidural canal and facilitate subsequent corrected placement.