Secondary Logo

Journal Logo


Anaesthesia and orphan disease: anaesthetic management of a child with Pena-Shokeir syndrome

Bakan, Mefkur; Idin, Kadir; Karaaslan, Kazim; Ozturk, Erdogan

Author Information
European Journal of Anaesthesiology: December 2012 - Volume 29 - Issue 12 - p 595-596
doi: 10.1097/EJA.0b013e3283552265

This Correspondence is accompanied by the following Invited Commentary:

Veyckemans F. Case reports: keep a critical eye! Eur J Anaesthesiol 2012; 29:559–560.


Pena-Shokeir syndrome is a rare, autosomal recessive disorder first identified by Pena and Shokeir1 in 1974. It is characterised by foetal akinesia/hypokinesia, intrauterine growth restriction, arthrogryposis (contractures of the joints), various cranio-facial anomalies (micrognathia, microphthalmia, cataracts or microcephaly), camptodactyly and pulmonary hypoplasia. These manifestations vary in severity, but are usually severe and death generally occurs during the neonatal period or soon thereafter as a result of respiratory or neurological complications. Some of these patients require anaesthesia for tracheotomy and for the corrections of the deformities if they are able to survive. We describe the anaesthetic and airway management of a child with Pena-Shokeir syndrome after we obtained consent from the patient's parents to publish this report.

A 23-month-old girl, 10 kg in weight was scheduled for the correction of cleft palate deformity. She was born by caesarean section at term (39 weeks, 2600 g). She had respiratory insufficiency and difficulty in feeding and was treated in a neonatal ICU for 9 days (without ventilatory support). She was diagnosed as Pena-Shokeir syndrome with an atypical facial appearance: small eyes, a depressed nasal bridge, small mouth and retrognathia (Fig. 1); also, she had cleft palate deformity, arthrogryposis and pes equinovarus.

Fig. 1
Fig. 1:
No captions available.

On preoperative examination she had respiratory crackles on auscultation of the lungs, but her respiratory condition was determined by the paediatricians to be optimal. Her intelligence was not impaired and laboratory examinations were normal. In addition to the cranio-facial anomalies, she also had a short and rigid neck. She had two general anaesthesia attempts terminated because of failure of tracheal intubation in two different institutes when she was 9 and 17 months old.

After premedication with oral midazolam 5 mg, she was taken to the operating theatre and standard monitors were placed. The smallest tracheal tube that can be loaded onto the flexible fibreoptic bronchoscope available in our clinic has a 5.5 mm internal diameter that may have been traumatic to the child. So, as the first option, fibreoptic-assisted laryngoscopy was planned.

Anaesthesia was induced by facemask with sevoflurane and oxygen and there was no difficulty with mask ventilation. After insertion of an intravenous catheter, fentanyl 20 μg was administered and sevoflurane discontinued. Propofol infusion 10 mg kg−1 h−1 was started and the infusion rate was adjusted according to respiratory rate. While maintaining spontaneous ventilation, an anaesthetist performed laryngoscopy, and another performed endoscopy via the oral route using the fibreoptic endoscope. After the endoscopist identified the oesophagus and trachea, the patient was intubated with a 4 mm (internal diameter) armoured tracheal tube with cuff. Laryngoscopy was graded as Cormack & Lehane grade III.

After intubation, anaesthesia was maintained with propofol 6–10 mg kg−1 h−1 and remifentanil 0.15–0.3 μg kg−1 min−1. Rocuronium 4 mg was administered prior to insertion of a mouth gag and no further neuromuscular blocking agent was used after this. The duration of surgery was 150 min. After cessation of remifentanil, intravenous fentanyl 20 μg and rectal paracetamol 240 mg were administered for postoperative analgesia. The patient also received intravenous methylprednisolone 20 mg. The anaesthesia and recovery were uneventful.

This child was a rare presentation of this syndrome, as her intelligence was not impaired and respiratory condition was relatively good. Although there are limited anaesthetic reports, difficult tracheal intubation, reactive airway and perioperative respiratory complications related to hypoplasia of the lungs must be considered during anaesthesia management of Pena-Shokeir syndrome.2,3 In one case report, two episodes of malignant hyperthermia were mentioned in the medical history of a patient with Pena-Shokeir syndrome, but the condition was not well documented.3 The risk for malignant hyperthermia in patients with arthrogryposis is controversial. In such patients, a malignant hyperthermia-like condition with increase in body temperature was commented as a hypermetabolic response to anaesthesia and surgery.4,5 In a review of 32 years’ experience, no malignant hyperthermia was reported in 67 patients with arthrogryposis who underwent nearly 400 anaesthesia episodes with triggering agents.6 Our patient had two brief anaesthesia exposures with sevoflurane in her medical history without any sign of malignant hyperthermia. However, the triggering of malignant hyperthermia by drugs was suggested as a dose-dependent phenomenon.7 We did not persist with inhalation anaesthesia after we had ensured mask ventilation and had intravenous access. Total intravenous anaesthesia with propofol and remifentanil and low-dose rocuronium was successfully used without incident for cleft palate repair.

Although, there is no strong evidence, we think that the possibility of malignant hyperthermia should be considered in Pena-Shokeir syndrome as in any child with musculoskeletal abnormality. Succinylcholine should be avoided due to the risk of hyperkalemia, as well as inhalational agents. Furthermore, difficult airway management should be anticipated in Pena-Shokeir syndrome.


Assistance with the study: none declared.

Financial support and sponsorship: none declared.

Conflicts of interest: none declared.


1. Pena SDJ, Shokeir MHK. Syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia. A lethal condition. J Pediatrics 1974; 85:373–375.
2. Nakamura A, Kawahito S, Katayama T, et al. Bronchospasm during anaesthesia in a patient with Pena-Shokeir syndrome. Masui 2005; 54:1146–1148.
3. Boesen PV, French CE. Acute respiratory distress in Pena-Shokeir syndrome. Ear Nose Throat J 2004; 83:772–773.
4. Hopkins PM, Ellis FR, Halsall PJ. Hypermetabolism in arthrogryposis multiplex congenital. Anaesthesia 1991; 46:374–375.
5. Ferris PE. Intraoperative convulsions in a child with arthrogryposis. Anaesth Intensive Care 1997; 25:546–549.
6. Baines DB, Douglas ID, Overton JH. Anaesthesia for patients with arthrogryposis multiplex congenital: what is the risk of malignant hyperthermia? Anaesth Intensive Care 1986; 14:370–372.
7. Hopkins PM. Malignant hyperthermia: pharmacology of triggering. Br J Anaesth 2011; 107:48–56.
© 2012 European Society of Anaesthesiology