Anaesthesia and Wolf-Hirschhorn Syndrome

Abstract

A 4-year-old female, weighing 12kg, presented for ENT and dental examination under anaesthesia. Nasal intubation was requested to facilitate the dental examination. On examination she had the distinctive facial features of Wolf-Hirschhorn syndrome that included hyperteleorism, prominent glabella, short “beaked” nose, short philtrum, mild micrognathia and microsomia, but she had no cleft lip or palate, nor iris coloboma. She had generalised hypotonia. She initially failed to thrive because of feeding difficulty, recurrent infections and aspiration pneumonia, requiring numerous hospital admissions. She is developmentally delayed and has a history of convulsions that are controlled with levetiracetam 750mg and lamotrigine 25mg. The PDA noted at birth had closed by 3 months and there was no other cardiac abnormality. She had intra-uterine growth retardation (IUGR) and was delivered prematurely at 34 weeks by emergency Caesarean section to a 34-year old primigravida. At 8 months she underwent an anti-reflux procedure for recurrent aspiration. A feeding gastrostomy was placed at the same time, in view of her difficulty with swallowing and refusal to eat. The Nissen fundoplication was made difficult by a small diaphragmatic hernia. Intubation at that time was noted to be difficult, but not impossible, using a Miller 1 laryngoscope blade. Anaesthesia was uneventful and consisted of a sevoflurane induction, maintenance with isoflurane and a thoracic epidural for peri-operative pain management. There was no suggestion of malignant hyperthermia. On this occasion she required no sedative premedication. On arrival in theatre, she was asleep in her father’s arms and a “steal induction” using sevoflurane was performed. After ascertaining that the larynx could be visualised, albeit with some difficulty, a nasal RAE endotracheal tube was softened in hot water to facilitate passage through the more patent left nostril. A smaller ET tube (4mm) than expected for her age (5mm) was placed atraumatically without muscle relaxants. A throat pack was inserted to prevent potential soiling of the airway. Anaesthesia, lasting 2 hours, was uneventful and she remained normothermic. A paracetamol suppository (250mg), placed prior to surgery, provided adequate postoperative analgesia.