Moebius sequence : a multidisciplinary clinical approach

Background: Moebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic conditions. The aetiology is still unknown; but both genetic (de novo mutations) and vascular events in utero are reported. The purpose of present study was through a multidisciplinary clinical approach to examine children diagnosed with Moebius-like symptoms. Ten children underwent odontological, ophthalmological, obstetric, paediatric, orthopaedic, genetic, radiological and photographical evaluation. Five patients maintained the diagnosis of MS according to the diagnostic criteria. Results: All five patients had bilateral facial and abducens paralysis confirmed by ophthalmological examination. Three of five had normal brain MR imaging. Two had missing facial nerves and one had missing abducens nerves. The Strengths and Difficulties Questionnaire (SDQ) showed normal scores in three of five patients. Interestingly, two of five children were born to mothers with uterine abnormalities (unicornuate/bicornuate uterus). In the odontological examination three of five showed enamel hypomineralisation. All five had abnormal orofacial motor function and maxillary prognathism. Two patients had adactyly, syndactyly and brachydactyly. None of the five patients had Poland anomaly, hip dislocation or dysplasia but all had a mild degree of scoliosis. We observed congenital club-feet, calcaneovalgus deformities, macrodactyly of one or more toes or curly toes. Pedobarography showed plantar pressures within normal ranges. Conclusions: Adherence to standard diagnostic criteria is central in the diagnosis of MS. An accurate diagnosis is the basis for correct discussion of other relevant concomitant symptoms of MS, genetic testing and evaluation of prognosis. The multidisciplinary approach and adherence to diagnostic criteria taken in present study increases the knowledge on the relationship between genotype, phenotype and symptomatology of MS. © 2017 The Author(s)

Epidural analgesia is superior to local infiltration analgesia in children with cerebral palsy undergoing unilateral hip reconstruction

Background and purpose — Treatment of postoperative pain in children with cerebral palsy (CP) is a major challenge. We investigated the effect of epidural analgesia, high-volume local infiltration analgesia (LIA), and an approximated placebo control on early postoperative pain in children with CP who were undergoing unilateral hip reconstruction. Patients and methods — Between 2009 and 2014, we included 18 children with CP. The first part of the study was a randomized double-blind trial with allocation to either LIA or placebo for postoperative pain management, in addition to intravenous or oral analgesia. In the second part of the study, the children were consecutively included for postoperative pain management with epidural analgesia in addition to intravenous or oral analgesia. The primary outcome was postoperative pain 4 h postoperatively using 2 pain assessment tools (r-FLACC and VAS-OBS) ranging from 0 to 10. The secondary outcome was opioid consumption over the 21-h study period. Results — The mean level of pain 4 h postoperatively was lower in the epidural group (r-FLACC: 0.7; VAS-OBS: 0.6) than in both the LIA group (r-FLACC: 4.8, p = 0.01; VAS-OBS: 5.2, p = 0.02) and the placebo group (r-FLACC: 5.2, p = 0.01; VAS-OBS: 6.5, p < 0.001). Corrected for body weight, the mean opioid consumption was lower in the epidural group than in the LIA group and the placebo group (both p < 0.001). Interpretation — Epidural analgesia is superior to local infiltration analgesia for early postoperative pain management in children with cerebral palsy who undergo unilateral hip reconstruction