Kugelberg–Welander Syndrome (type III Spinal Muscular Atrophy) has a late onset and benign course, characterised by episodic deterioration. Average age at death is 51 years [1–3]. It is an autosomal recessive condition, and commoner in females. The primary abnormality is thought to arise in the q11.2–13.3 region of chromosome 5, causing mutation of the ‘Survival motor neurone gene’ and the ‘neuronal aptoptosis inhibitory gene’.
A 25-year-old-female with Kugelberg–Welander Syndrome presented for urgent corneal grafting due to keratoglobus. She was barely mobile, with limitation of neck movement due to contractures. Blood tests and ECG were normal. Lung function tests were not available, although a significant scoliosis was present.
Very little information is available in the anaesthetic literature regarding the management of such cases, except to confirm that muscle relaxants, opioids and thiopental could all a have prolonged duration of action . It was the surgeon's opinion that surgery was urgent and that general anaesthesia was required. It was decided to use total intravenous anaesthesia (TIVA) using propofol and remifentanil in an attempt to avoid exposure to long acting drugs and to reduce the need for muscle relaxation.
Anaesthesia was induced using 0.5 mg of alfentanil and 100 mg of propofol. A size 3 laryngeal mask was inserted uneventfully. The patient's lungs were ventilated with an oxygen/air mixture (FiO2 0.4) through a circle system. Airway pressure did not exceed 13 mmHg at any time. Anaesthesia was maintained using propofol and remifentanil infusions. The surgeon reported excellent operating conditions. The procedure lasted 55 min, and controlled ventilation was possible throughout the operation without the administration of any muscle relaxation. In total, 1 mg of remifentanil and 510 mg of propofol were administered. There were no cardiovascular or respiratory instabilities at any time.
Spontaneous respiration returned almost immediately that the two infusions were stopped. The laryngeal mask was removed within 5 min, and the patient was ready for discharge back to the ward 20 min later. Postoperatively, analgesia was provided by paracetamol, and Feldene Melt 20 mg sublingually, as required. Oxygen therapy was administered for 24 h. No adverse effects, nausea, vomiting or pain were reported and the patient was discharged on the fifth postoperative day.
The life span of these patients makes it inevitable that they will present for a variety of procedures. TIVA using short acting drugs may provide an ideal way of avoiding longer acting medication, the action of which can be unpredictably prolonged by the underlying condition. For peripheral procedures, or operations that are largely not stimulating, it may be the method of choice when general anaesthesia is needed.