Small fiber neuropathy in children, adolescents, and young adults with chronic orthostatic intolerance and postural orthostatic tachycardia syndrome: A retrospective study.

PURPOSE: To determine in children, adolescent and young adult (CAYA) patients presenting with Orthostatic Intolerance (OI) or Postural Orthostatic Tachycardia Syndrome (POTS) associated with the additional symptoms of neuropathic discomfort (pain, paresthesia and/or allodynia): 1) the incidence of small fiber neuropathy, and 2) assess if there was serologic evidence for an underlying inflammatory or autoimmune state. METHODS: A cohort of 109 CAYA patients with the above symptoms underwent epidermal skin biopsy for nerve fiber density. Blood biomarkers for inflammation were tested (CRP, ESR, ANA, complement (C3), thyroid function testing with antibodies (thyroid peroxidase antibody and thyroglobulin antibody), and cytokine panel 13). Patients completed a Quality of Health questionnaire. Statistical analysis was performed using Wilcoxon rank sum tests. RESULTS: In CAYA patients with OI or POTS and neuropathic symptoms, skin biopsy for small fiber neuropathy was abnormal in 53 %. The sample population was predominantly female and Caucasian with moderately decreased perceived quality of health. OI /POTS patients with small fiber neuropathy had a 3-fold probability of having a positive ANA or anti-thyroid antibody, suggesting an underlying autoimmune or inflammatory process. CONCLUSION: Our data suggest a link between OI and POTS and small fiber neuropathy. Small fiber neuropathy was found by skin biopsy in over half of the patients tested. OI and Postural orthostatic tachycardia patients with small fiber neuropathy expressed multiple markers suggesting an underlying autoimmune or inflammatory process. Future research will be done to evaluate the symptomatic implication of SFN and whether immune or pharmacologic manipulation can alter patient symptoms.

Loss to Hospital Follow-Up in Pediatric Cerebral Malaria Survivors: A Case-Control Study.

Children surviving central nervous system (CNS) infections are at high risk of neurological, behavioral, and cognitive sequalae. Early identification, characterization, and treatment of these sequelae may improve child and family health. In Africa, it is unclear if there are demographic or clinical factors that increase the risk of post-hospital loss to follow-up in children with CNS infections. If these factors exist, targeted educational efforts to increase rates of post-hospital retention could be focused on families at highest risk. We performed a case-control study of Malawian children with cerebral malaria, a locally common CNS infection, previously admitted to a specialized research unit in Blantyre, Malawi. Routine survivor post-hospital follow-up was scheduled for 1 month, 6 months, and 12 months. We compared demographic and clinical characteristics between 84 children who missed one or more of these post-hospital visits with 120 children who attended all visits. There were no statistically significant differences in demographic or clinical characteristics between children whose families returned for all follow-up visits and those who did not. Specifically, when comparing these groups, we found no differences in age (P = 00.646), sex (P = 0.789), duration of hospitalization (P = 0.903), distance from home to hospital (P = 0.355), type or severity of neurological sequelae (P = 0.837), guardian literacy (P = 0.057), or number of discharge medications (P = 0.464). No factors assessed in this study were associated with higher risk of loss to follow-up in Malawian child survivors of CNS infections. During hospitalization, educational efforts to increase post-hospital retention should focus on all families.

Median Arcuate Ligament Syndrome with Orthostatic Intolerance: Intermediate-Term Outcomes following Surgical Intervention.

OBJECTIVES: To report the intermediate-term outcome following surgical intervention for median arcuate ligament syndrome (MALS) in adolescents and young adults with orthostatic intolerance (OI) to assess clinical improvement in the gastrointestinal and 5 other functional domains and if relief of arterial obstruction is associated with resolution of clinical symptoms. STUDY DESIGN: Thirty-one patients were given 2 dysautonomia-designed questionnaires to assess changes in symptoms following operative intervention in 6 functional domains and underwent postoperative repeat abdominal ultrasound examinations. RESULTS: Average follow-up after surgery was 22.4 ± 14.8 months. Self-assessed quality of health on a Likert scale (1-10 with 10 being normal) improved from 4.5 ± 2.1 preoperatively to 5.3 ± 2.4 postoperatively (P = not significant). Gastrointestinal symptoms of abdominal pain, nausea, and vomiting improved in 63% (P = .007), 53% (P = .040), and 62% (P = .014) of patients, respectively. Cardiovascular symptoms of dizziness, syncope, chest pain, and palpitations improved in 45% (P = not significant), 50% (P = not significant), 54% (P = .043), and 54% (P = .037) of patients, respectively. Transabdominal ultrasound peak supine expiratory velocity decreased from 348 ± 105 cm/s preoperatively to 251 ± 109 cm/s at 6 months or more after a ligament release procedure. Decrease of the postoperative celiac artery Doppler velocity was not associated with an improvement in gastrointestinal symptoms (P = .075). CONCLUSIONS: Adolescent and young adult patients with median arcuate ligament syndrome and OI have a good response to surgical intervention. About two-thirds of patients report significant improvement in symptoms of abdominal pain, nausea, and vomiting. Despite these encouraging data, many patients with MALS and OI continue to have an impaired quality of health.

Dilated cardiomyopathy following right ventricular pacing for AV block in young patients: resolution after upgrading to biventricular pacing systems.

INTRODUCTION: Cardiac resynchronization therapy (CRT) has been demonstrated to result in clinical improvement in older adult patients with dilated cardiomyopathy (DCM), specifically those with left bundle branch block and prolonged QRS duration. We sought to demonstrate the benefits of CRT on improvement in cardiac function and clinical outcome in young patients that developed congestive heart failure (CHF) and DCM following cardiac pacing for AV block. METHODS AND RESULTS: We reviewed the charts of six patients who developed CHF or low cardiac output symptoms and DCM following implantation of right ventricular (RV)-based pacing systems for AV block, and subsequently underwent CRT. Patients ranged in age from 6 months to 23.7 years (mean: 11.3 +/- 3.6 years). AV block was congenital (3), post-surgery (2), and acquired (1). Pacing had been performed for 0.1-14.5 (7.6 +/- 2.4) years prior to development of DCM. Two patients required listing for cardiac transplantation. Following CRT: (1) QRS duration shortened from 204 +/- 15 to 138 +/- 10 msec, P = 0.002, (2) left ventricular ejection fraction improved from 34 +/- 6 to 60 +/- 2%, P = 0.003, and (3) left ventricular end diastolic dimension shortened from 5.5 +/- 0.8 to 4.3 +/- 0.5 cm, P = 0.03. All patients demonstrated clinical improvement and have been weaned from CHF medications and listing for cardiac transplantation. CONCLUSIONS: CRT can benefit young patients that develop CHF and DCM following RV pacing for AV block. Upgrading to biventricular pacing systems should be considered early in the management of these patients prior to listing for cardiac transplantation.

Effectiveness of excimer laser-assisted pacing and ICD lead extraction in children and young adults.

BACKGROUND: High capture thresholds, decreased electrical sensing, and lead fractures continue to be a problem in children undergoing transvenous pacing. The clinician must therefore decide at the time of pacing system revision to either abandon chronically implanted transvenous pacing leads or extract them. METHODS: We report our experience using an excimer laser-assisted (LA) strategy for removing chronically implanted pacing (36) and implantable cardioverter/defibrillator (ICD) (7) leads in children and young adults. The study population consisted of 25 patients, in whom 29 procedures were performed. The patients ranged in age from 8.4 to 39.9 years, median age was 13.9 years, at the time of the extraction procedure. In all procedures, a Spectranectics locking stylet and excimer laser sheath were used to assist in lead extraction. RESULTS: Lead removal was complete for 39 (91%) leads, and partial for four leads. In two patients, the pacing lead tip was retained and in two, the ring electrode from a bipolar pacing lead was left in situ. All ICD leads were removed completely. Two major complications occurred--cardiac perforation and tamponade (1), and thrombosis of the left subclavian/innominate vein (1). LA extraction facilitated the implantation of new pacing or ICD leads in three patients with obstructed venous access. CONCLUSIONS: Removal of pacing and ICD leads using an excimer LA technique was highly successful. Lead removal was complete in 91%. The most common indication for lead removal in our study was lead fracture. Complications were few, but may be significant.