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Spondyloepiphyseal Dysplasia Congenita Syndrome: Anesthetic Implications

Mogera, Chandra MD; Muralidhar, V. MD

Letter to the Editor

Department of Anaesthesiology, All India Institute of Medical Sciences, New Delhi, India.

To the Editor:

We here report a case of spondyloepiphyseal dysplasia congenita (SDC) in a patient who presented for eye surgery.

A 10-yr-old, 11-kg, male child was electively scheduled for cryosurgery, buckle surgery, and encirclage surgery for right eye retinal detachment.

SDC was diagnosed in early infancy when the parents noticed poor physical milestones, but social and mental milestones were normal. Physical examination revealed a child (85cm dwarf) with rounded facies, hypertelorism, knock-knee, thoracic kyphoscoliosis, pes cavus, low hairline, and short neck. There was generalized hypotonia of the limb and abdominal muscles. His medical history was otherwise unremarkable for any major organ dysfunction.

Radiographic examination revealed flattening of vertebral bodies at all levels, widening of the epiphysis of long bones, and agenesis of the neck of femur. Echocardiography showed no abnormality.

The patient received no premedication. Intraoperative monitoring included electrocardiogram, noninvasive blood pressure, pulse oximetry, ETCO2, temperature, and neuromuscular blockade with train-of-four stimulation. Anesthesia was induced with O2, N2 O, and halothane. After demonstrating that the lungs were easily ventilated with bag and mask, atracurium 5 mg was given to facilitate endotracheal intubation. Due care was taken to prevent any excessive extension of the neck. Laryngoscopy revealed partial exposure of the glottis, but with cricoid pressure a 5-mm endotracheal tube was passed in a single attempt.

Ventilation was controlled and anesthesia was maintained with meperidine 5 mg intravenously, halothane 0.5%, and intermittent doses of atracurium. Surgery proceeded uneventfully for 70 min. On the operating table, flexion, extension, and rotation of the head was confined to an absolute minimum. In spite of generalized muscle hypotonia, the patient's response to atracurium was normal. At the end of surgery, neuromuscular blockade was reversed and the trachea extubated. The patient made an uneventful recovery and was discharged on the fifth postoperative day.

SDC is a rare autosomal dominent genetic disorder [1]. There are only two previous reports on the anesthetic management of this disorder, one of which used regional anesthesia [2,3].

The important possible anesthetic complications of this rare disorder are a high risk of atlantoaxial dislocation and compression of the spinal cord at C1-2 during tracheal intubation [1]. The facial manifestation of this syndrome may make laryngoscopic exposure of the vocal cords difficult. Obtaining a good mask airway may be difficult owing to a poor seal from facial asymmetry and the small chin. These patients may also have laryngotracheal stenosis [3]. For a dwarf, of course, the appropriate endotracheal tube size will be smaller than that suggested for the patient's age. Associated kyphoscoliosis with thoracic dysplasia may lead to respiratory failure in the perioperative period [2].

Chandra Mogera, MD

V. Muralidhar, MD

Department of Anaesthesiology

All India Institute of Medical Sciences

New Delhi, India

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1. Jones KL Jr, Cardejn AB. Dysmorphic syndromes and their significance to anesthesiologists. In: Sterling LC, Zauder HL, eds. Anesthetic implications of congenital anamolies in children. New York: Appleton-Century-Crofts. 1990:9-22.
2. Rodney SE, Callander CC, Harmer M. Spondyloepiphyseal dysplasia congenita--caesarian section under epidural anaesthesia. Anaesthesia 1991;46:648-50.
3. Yagi Y, Yamazaki M, Satone T. Spondyloepiphyseal dysplasia congenita. Jpn J Anesthesiol 1987;5:793-6.
© 1996 International Anesthesia Research Society