Epidermolysis bullosa with pyloric atresia associated with compound heterozygous ITGB4 pathogenic variants: Minimal skin involvement but severe mucocutaneous disease.

We report a case of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) with minimal skin involvement but severe protein-losing enteropathy and airway involvement. Genetic analysis revealed heterozygous mutations in the ITGB4 gene encoding integrin ß4 protein. Parental testing confirmed inheritance of frameshift variant (c.794dupC) as maternal and splice site variant (c.1608C>T/p.Cys536Cys) as paternal. Immunofluorescence mapping of her skin revealed a subepidermal blister with decreased and frayed integrin ß4 at both the floor and the roof of the blister, while the intestinal mucosa showed complete absence of integrin ß4. We review the literature and discuss the differential expression of integrins in the skin and gastrointestinal tract, as well as the role of chronic inflammation in the pathogenesis of EB.

Epidemiology of Pediatric Tracheostomy and Risk Factors for Poor Outcomes: An 11-Year Single-Center Experience.

OBJECTIVE: Children with long-term tracheostomies are at higher risk of complications. This study aims to describe the epidemiology, outcomes, and factors associated with successful decannulation in children undergoing tracheostomy. STUDY DESIGN: Case series with chart review. SETTING: Tertiary hospital. SUBJECTS AND METHODS: A retrospective analysis was conducted on pediatric tracheostomies performed from 2006 to 2016. Demographics, preexisting comorbidities, indications for tracheostomy, and pretracheostomy ventilatory requirements were collected. A multivariate regression model with covariates of age, failure to thrive (FTT), and comorbidities was used to identify factors associated with successful decannulation. Secondary outcomes were ventilation and oxygen requirements at hospital discharge, hospital and intensive care unit length of stay, and complications. RESULTS: In total, 105 patients received a tracheostomy at a median age of 8.0 months (interquartile range, 2.0-45.0). The most common indication was anatomic airway obstruction (55 of 105, 52.5%). Forty-four (41.9%) patients had preexisting FTT. In-hospital mortality was 14 of 105 (13.3%). None were directly related to tracheostomy. At discharge, 40 of 91 (44.0%) and 12 of 91 (13.2%) required home mechanical ventilation and supplemental oxygen, respectively. Forty-one (39%) patients underwent successful decannulation at a median 408 days (interquartile range, 170-1153) posttracheostomy. On adjusted analysis, unsuccessful decannulation was more common in patients with FTT and neurologic comorbidities. Postoperative complications were more common in younger patients and those with a longer time to decannulation. CONCLUSION: Neurologic comorbidities and FTT were risk factors for unsuccessful decannulation after pediatric tracheostomy. Nutritional interventions may have a role in improving long-term outcomes following pediatric tracheostomies and should be investigated in future studies.

Ketamine-based procedural sedation and analgesia for botulinum toxin A injections in children with cerebral palsy.

INTRODUCTION: Adequate procedural sedation and analgesia (PSA) is essential to reduce pain and distress for children undergoing intramuscular botulinum toxin (BoNT-A) injections. This study describes our institution's experience with ketamine-based PSA in terms of safety and efficacy in children with cerebral palsy receiving BoNT-A injections. MATERIAL AND METHODS: This is an analysis of ketamine-based PSA for children undergoing BoNT-A injections between January 2000 and October 2014. All patients received PSA according to our institution's sedation protocol. From 2000 to 2012, intravenous ketamine and midazolam PSA was administered. From 2013 onwards, intravenous ketamine was used as a sole agent for PSA. RESULTS: A total of 152 BoNT-A procedures were performed successfully on 87 children. The median age of the children was 5 years 5 months with 9 children younger than 36 months. Ten procedures (6.6%) were associated with acute transient self-limiting side effects: Four developed rashes, three had nausea and vomiting, one child had limb tremors and another child complained of mild headache. One child reported nightmares on the evening of the procedure during the two-week post-procedure review. No child experienced serious adverse events. CONCLUSION: Administration of ketamine-based PSA for intramuscular BoNT-A procedures in children can be both safe and efficacious.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome may have a hypothalamus-periaqueductal gray localization.

BACKGROUND: Anatomical localization of the rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome has proved elusive. Most patients had neuroimaging after cardiorespiratory collapse, revealing a range of ischemic lesions. PATIENT DESCRIPTION: A 15-year-old obese boy with an acute febrile encephalopathy had hypoventilation, autonomic dysfunction, visual hallucinations, hyperekplexia, and disordered body temperature, and saltwater regulation. These features describe the ROHHAD syndrome. Cerebrospinal fluid analysis showed pleocytosis, elevated neopterins, and oligoclonal bands, and serology for systemic and antineuronal antibodies was negative. He improved after receiving intravenous steroids, immunoglobulins, and long-term mycophenolate. Screening for neural crest tumors was negative. CONCLUSION: Magnetic resonance imaging of the brain early in his illness showed focal inflammation in the periaqueductal gray matter and hypothalamus. This unique localization explains almost all symptoms of this rare autoimmune encephalitis.