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Sotos' syndrome … a rare challenge?

2001; Wiley; Volume: 56; Issue: 8 Linguagem: Inglês

10.1046/j.1365-2044.2001.02181-17.x

1365-2044

A. Varvinski, FJ McGill, Victoria E. Judd, I. Hodzovic,

Genomics and Rare Diseases

We would like to report the case of a child with Sotos' syndrome who presented for emergency orthopaedic surgery. This report adds to the documented anaesthetic management [1, 2] of this very rare syndrome, first described by Sotos in 1964. A 13-year-old girl, weighing 55 kg and approximately 165 cm tall, presented one evening for emergency surgery. She had fallen and fractured her right tibia 5 h earlier and was listed for an emergency manipulation under anaesthesia by the orthopaedic surgeons who suspected vascular compromise. She had eaten 3 h prior to falling over so was assumed to have a full stomach. With regards to her Sotos' syndrome her mother reports two main problems: learning difficulties and muscle weakness necessitating use of a wheelchair for long distances. The fact that the patient had undergone general anaesthesia within the past 1–2 years with no problems was reassuring. On examination, she showed some of the typical features of Sotos' syndrome including macrocephaly with a prominent forehead, dolichocephaly and down slanting palpebral fissures. She had a tall stature with long arms and was mentally retarded. Cardiac abnormalities, e.g. mitral valve prolapse, can also occur in Sotos' syndrome; however, our patient had a normal heart. We also noted a high arched palate, markedly receding jaw (not typical of Sotos' syndrome), a reduced thyro-mental distance and crowded teeth. Mallampati score was difficult to determine, as the patient was uncooperative. Information on Sotos' syndrome was sought from the departmental library and the Internet. We found almost nothing about the practical aspects of anaesthetic management. Most of the references found were regarding medical and genetic aspects of the syndrome [3]. The usual pre-operative preparation along with a ‘difficult intubation trolley’ were made available. No premedication was given except topical local anaesthetic cream, amethocaine 4%. Once the patient was in the anaesthetic room, intravenous access was established. The mother distracted the child and provided invaluable help. A modified rapid sequence was performed. The patient was pre-oxygenated and anaesthesia was induced with thiopental 300 mg followed by bag and mask ventilation. Suxamethonium 100 mg was administered once the patency of the airway had been confirmed. The intubation turned out to be surprisingly straightforward – Grade 1 laryngoscopy and a size 7 tracheal tube used to secure an airway. The patient was maintained on sevoflurane, oxygen and air. As the procedure was only expected to last a few minutes, no further muscle relaxant was given. She had a total of 75 µg fentanyl, 100 mg rectal diclofenac and ondansetron 4 mg. She was extubated awake with no complications. Other options were considered with regards to the anaesthetic management. Firstly, an inhalational induction with sevoflurane or halothane. We were concerned that the patient had a full stomach with the risk of vomiting/regurgitation, potential aspiration and consequent loss of the airway. Alternatively, regional anaesthesia was an option. As the child was 13 and mentally retarded, this would have been very difficult even under sedation. The response to sedation is also not always predictable possibly making the patient even more agitated. Despite the fact that this patient with Sotos' syndrome did not create any significant anaesthetic problems, we felt it was useful to document our experience. We hope that by doing so we would add to the limited published work of the anaesthesia management for this rare syndrome. This case, along with other rare cases that present for anaesthesia and surgery, poses a serious problem of availability of information relevant to anaesthesia. Often these cases present themselves out of hours so the need for easy access to relevant information is crucial. An anaesthetic web site listing these uncommon diseases and giving advice on their management could be life saving in an emergency situation. We wonder whether this could be a project for the Association of Anaesthetists to embark upon?