ABSTRACT
We here report the diagnosis and treatment of tricho-hepato-enteric syndrome in a female neonate. The 11-day-old patient, born at a gestational age of 38 weeks and with a birth weight of 1 700 g, was admitted to the Affiliated Hospital of Jining Medical University in January 2019 due to "skin stained yellow for 6 d". She presented with yellow, thin, and sparse hair that was easy to fall off, intractable diarrhea, repeated fever, and slow weight gain, further complicated by congenital heart disease. After 25-days of treatment, the child's infection was under control, but still had diarrhea. The baby girl was discharge later on request of her parents, but readmitted at the age of 3 months due to pulmonary infection. Delayed development, malnutrition, prominent forehead, wide eye distance, low nasal bridge, hepatomegaly, and intractable diarrhea were also observed. Whole exome sequencing identified a homozygous mutation of c.2344delC(p.His782fs) in SKIV2L gene in the baby, and both her parents were heterozygous carriers of the mutation at this site. She was diagnosed with SKIV2L gene mutation-induced tricho-hepato-enteric syndrome. The patient suffered from sustained diarrhea and recurrent infection and died of infection at 4 months of age after her parents' decision to withdraw treatment.
ABSTRACT
Objective:To understand the status of sedation and analgesia treatment and management in pediatric intensive care unit(PICU) in Shandong Province, and to provide the basis for the improvement of sedation and analgesia treatment plan.Methods:This study was a multi-center retrospective study.The PICUs of 6 tertiary hospitals in Shandong Province participated in this study.The data of 1 340 children admitted to these 6 PICUs from January 2016 to December 2018 were collected.The age, gender, the pediatric risk of mortality score Ⅲ at 24 hours after admission, whether they received mechanical ventilation, whether they received sedation and(or) analgesia, whether they were monitored sedation and(or) analgesia, and in-hospital mortality were analyzed.The children were divided into the simple sedation group( n=798), the sedation + analgesia group( n=120) and the non-sedation analgesia group( n=422) according to whether they received sedation and(or) analgesia.The diseases, proportion of mechanical ventilation, incidence of hypotension, average length of stay in PICU and in-hospital mortality were compared among the three groups. Results:The median age of the 1 340 children was (13.3±6.4) months, including 786 males(58.7%). Sedation therapy had been carried out in 6 PICUs, of which 5 PICUs had routine sedation assessment; 4 PICUs had carried out analgesic therapy, of which only 2 had routine pain assessment.A total of 918 children(68.5%)received sedation and(or) analgesia, midazolam was the most commonly used sedative drug, followed by dexmedetomidine, and 526 children(57.3%)were monitored for sedation assessment, the most commonly used assessment method was the Richmond agitation sedation score.One hundred and twenty(9.0%)cases received sedation combined with analgesia, fentanyl was the most commonly used analgesic, and 38 children(31.7%) underwent routine pain assessment.There was no significant difference in age and sex among the three groups.The proportion of surgical diseases and patients received mechanical ventilation(100.0%, 120/120) were the highest in the sedation + analgesia group.The proportion of mechanically ventilated patients was the lowest in the non-sedation analgesia group(11.4%, 48/422). The mean duration of mechanical ventilation in the sedation + analgesia group was slightly shorter than that in the simple sedation group( P>0.05). The incidence of hypotension was highest in the sedation + analgesia group, and lowest in the non-sedation analgesia group[21.7%(26/120) vs.2.1%(9/422), P<0.01]. There was no significant difference in in-hospital mortality and mean PICU stay among three groups. Conclusion:Benzodiazepines are still the main sedative drugs used in PICUs in Shandong Province.In recent years, the usage of dexmedetomidine has gradually increased, but the proportion of analgesic use is very low.At present, analgesic and sedative therapy is mainly used for children after surgery and receiving mechanical ventilation.Although analgesic and sedative therapy does not increase the in-hospital mortality and average length of stay in PICU, it increases the incidence of hypotension.The sedative and analgesic treatment and assessment in the PICU of Shandong Province are still not standardized, mainly reflected in infrequently analgesic treatment and the assessment of sedation and pain, which need to be further improved.