Infant with a hereditary blistering disorder: an interesting case in the NICU.

This is a case of hereditary skin disorder in a full-term female newborn, with family history of epidermolysis bullosa (EB), who developed skin vesicles on the first day of life (DOL) without mucosal or ocular involvement. A multidisciplinary approach involving dermatology, wound care, and occupational therapy led to full recovery in our patient within six days of life. Special precautions were taken to prevent complications. Upon genetic testing, the patient was found to have a genetic variant of unknown significance (VUS). The goal of this case report is to give a detailed account of the patient's course, provide management recommendations which could be applied to similar cases and settings in the newborn period.

Predicting Heterogeneity in Patient Response to Morphine Treatment for Neonatal Opioid Withdrawal Syndrome.

Infants with neonatal opioid withdrawal syndrome commonly receive morphine treatment to manage their withdrawal signs. However, the effectiveness of this pharmacotherapy in managing the infants' withdrawal signs vary widely. We sought to understand how information available early in infant monitoring can anticipate this treatment response, focusing on early modified Finnegan Neonatal Abstinence Scoring System (FNASS) scores, polygenic risk for opioid dependence (polygenic risk score (PRS)), and drug exposure. Using k-means clustering, we divided the 213 infants in our cohort into 3 groups based on their FNASS scores in the 12 hours before and after the initiation of pharmacotherapy. We found that these groups were pairwise significantly different for risk factors, including methadone exposure, and for in-hospital outcomes, including total morphine received, length of stay, and highest FNASS score. Whereas PRS was not predictive of receipt of treatment, PRS was pairwise significantly different between a subset of the groups. Using tree-based machine learning methods, we then constructed network graphs of the relationships among these groups, FNASS scores, PRS, drug exposures, and in-hospital outcomes. The resulting networks also showed meaningful connection between early FNASS scores and PRS, as well as between both of those and later in-hospital outcomes. These analyses present clinicians with the opportunity to better anticipate infant withdrawal progression and prepare accordingly, whether with expedited morphine treatment or non-pharmacotherapeutic alternative treatments.

Diagnostic limitations and considerations in the imaging evaluation of advanced multicentric infantile myofibromatosis.

Infantile myofibromatosis, the most common fibrous tumor of infancy, is classified in 2 forms; as a solitary nodule or as numerous, widely-distributed multicentric lesions with or without visceral involvement. Although benign, multicentric myofibromas are still associated with a high incidence of morbidity and mortality due to the infiltration of critical structures. Herein, we present a case of an infant with aggressive PDGFRB and NOTCH3 mutation-negative myofibromas distributed throughout the vascular, respiratory, and gastrointestinal systems. The extensive disease resulted in pulmonary hypertension, respiratory failure and gastrointestinal obstruction refractory to chemotherapy and unamenable to surgical resection. Despite the presence of numerous highly invasive myofibromas, multiple imaging modalities largely underestimated, or even missed, tumors found at autopsy. This case demonstrates the limitations of radiographic imaging to assess disease burden in multicentric infantile myofibromatosis. The postmortem findings of extensive disease far exceeding what was demonstrated by multiple imaging modalities suggests that pediatricians should have a high index of suspicion for undetected tumors if clinical deterioration is otherwise unexplained.

Racial association and pharmacotherapy in neonatal opioid withdrawal syndrome.

OBJECTIVE: To determine if racial differences are associated with Neonatal Opioid Withdrawal Syndrome (NOWS) severity. STUDY DESIGN: A 10-year (2008-2017) retrospective cohort of infants ≥35 weeks gestation with prenatal exposure to opioids was included. The primary measure was the need for pharmacotherapy. Multivariable logistic regression and propensity score analysis were performed. RESULTS: Among 345 infants with NOWS, 111 (32%) were black infants with 70% of them requiring pharmacotherapy as compared with 84% of white infants. Upon adjusting for significant covariates (methadone, benzodiazepine use, and gestational age), black infants were 57% less likely than whites to require pharmacotherapy (Odds ratio: 0.43, 95%CI: 0.22-0.80, p = 0.009). Similar results were observed with propensity score analysis. CONCLUSIONS: Significant racial disparity observed may be secondary to genetic variations in opioid pharmacogenomics and/or extrinsic factors. Large-scale studies are warranted to include race in predictive models for early pharmacological intervention.