PLACK syndrome is potentially treatable with intralipids.

We describe an 11-year-old girl with PLACK Syndrome (peeling skin, leukonychia, acral punctate keratosis, cheilitis, and knuckle pads), who was found to have a novel homozygous variant in CAST, the pathogenicity of which was confirmed using blood-derived RNA. There is no established treatment for PLACK syndrome. However, we demonstrate for the first time that this condition is associated with low levels of vitamin A and essential fatty acids, which prompted us to consider a potential treatment strategy. Indeed, we initiated this patient on intravenous lipid infusion (Vitalipid®; an emulsion of fat-soluble vitamins and lipofundin-MCT/LCT 20%) and the response was dramatic. Following the fourth monthly course of treatment, pruritis disappeared and the skin lesions showed remarkable objective improvement. PLACK syndrome is a very rare genodermatosis and only six families have been described to date with pathogenic CAST variants. This is the first report of an objective response to a therapeutic agent, which suggests that PLACK is a potentially treatable condition. The remarkable response we report and the relative safety of the intervention should prompt healthcare providers who care for PLACK syndrome patients to explore this as a potential treatment strategy in future studies.

Incidence, risk factors, and outcome of neonatal acute kidney injury: a prospective cohort study.

BACKGROUND: Acute kidney injury (AKI) is common in neonates admitted to the neonatal intensive care unit (NICU). AKI is associated with increased morbidity and mortality and a greater long-term risk of chronic kidney disease. OBJECTIVES: To study the incidence and outcome of neonatal AKI in a single Saudi Arabian center, level 2\3 NICU. METHODS: This single-center prospective cohort study included all infants who received level II or III NICU care during 2015 (January to December). We excluded infants who survived less than 48 h after admission, had evidence of congenital renal anomalies, or had insufficient data. AKI was defined according to the Kidney Disease: Improving Global Outcomes (KDIGO) criteria. Both AKI and non-AKI neonates were prospectively followed up until NICU discharge. Outcomes studied included mortality and length of NICU stay. The results of adjusted risk analyses were expressed as relative risk (RR) with 95% confidence interval (95% CI). RESULTS: The incidence of AKI (modified neonatal KDIGO stages) was 56% (120/214 patients). Compared with neonates without AKI, those with AKI had a lower birth weight (2202 ± 816 vs. 1570 ± 776 g; p < 0.001) and a lower gestational age (35 ± 3 vs. 32 ± 4 weeks; p < 0.001). After adjustment for potential confounders, only gestational age (RR, 4.8; 95% CI, 3-9) and perinatal depression (RR, 10; 95% CI, 2-46) were significantly associated with an increased risk of AKI. For infants with gestational age < 32 weeks, only the Clinical Risk Index for Babies (CRIB II) score was associated with an increased risk of AKI (RR, 1.9; 95% CI, 1-3). After adjustment for gestational age, AKI was significantly associated with mortality (RR, 5.4; 95% CI, 2-14), but not with the length of hospital stay (LOS) (p = 0.133). However, the AKI group had a significantly longer LOS (mean difference: 14 days; 95% CI, 5.5-23 days), and 33 patients (27.5%) with AKI were discharged with abnormally high serum creatinine levels (> 65 µmol/L). CONCLUSION: AKI occurred in more than half of all NICU admissions, was associated with an increased risk of mortality, and had a higher incidence among smaller and sicker infants. Therefore, close monitoring of renal function during hospitalization and after discharge is warranted in such infants.