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Two cases of Menkes disease: airway management and dental fragility.

Menkes disease is an X-linked recessive disease related to insufficiency of copper absorption from the intestine (1). The disease is characterised by developmental delay and growth retardation, seizures, central nervous system degeneration, defective collagen formation, abnormal hair (called 'kinky hair') and gastroesophageal reflux. Menkes disease may be associated with a difficult airway as the typical facial features include a small chin and prominent upper incisors. We report the management of two cases of Menkes disease that required multiple episodes of anaesthesia and demonstrated significant dental fragility.

Typical of Menkes disease, both patients were diagnosed at five months of age having presented with abnormal developmental progress. Low serum levels of copper and ceruloplasmin in an appropriate clinical context, after six weeks of age, can confirm the diagnosis. Both patients later presented with complications of the disease requiring anaesthesia at three years of age and both ultimately died of pneumonia.

The first patient re-presented at three years of age with upper airway obstruction and cardiopulmonary arrest associated with seizure activity. Oral tracheal intubation to facilitate mechanical ventilation was performed after several attempts with a Miller-type laryngoscope. Direct laryngoscopy failed to display the larynx, with a blind intubation technique ultimately succeeding. In view of the need for further investigations and management requiring anaesthesia, in the presence of airway obstruction and difficult intubation, tracheostomy was performed.

The second patient was admitted at three years of age for management of pneumonia and acute respiratory failure, requiring tracheal intubation and mechanical ventilation. He did not have a difficult airway and was intubated using conventional direct laryngoscopy. The trachea was extubated after the initial pneumonia had resolved. He had gastroesophageal reflux, a funnel chest, lower limb fracture and sick sinus syndrome as well as the characteristic developmental delay, neurological degeneration and growth retardation. Due to the need for ongoing intravenous copper supplementation and respiratory care, placement of a central venous catheter and tracheostomy were performed under general anaesthesia.

Overall these patients had a total of 12 anaesthesia episodes variously involving thiopentone, sevoflurane, vecuronium and reversal of muscle relaxation, none of which were associated with adverse reactions. Notably, both patients had repeated tooth fracture with intubation using conventional direct laryngoscopy.

Patients with Menkes disease frequently have multiple issues which complicate anaesthetic management (2,3). We had anticipated difficulty with the airway and tracheal intubation. Both patients had a small chin and prominent upper incisors. Facemask ventilation was not difficult in either case. Despite relative ease of intubation in one case, both patients had repeated tooth fracture during laryngoscopic manipulation. This propensity for tooth fracture seems likely to be related to the defective collagen and connective tissue formation that are characteristic of Menkes disease (4).

Anaesthesia, and especially airway management, of patients with Menkes disease should take into consideration their general condition, potentially difficult airway anatomy and marked dental fragility. Alternatives to traditional direct laryngoscopy may be more suitable for these patients.

References

(1) Menkes JH, Alter M, Steigleder GK, Weakley DR, Sung JH. 1. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 1962; 29:764-779.

(2) Kazim R, Weisberg R, Sun LS. Upper airway obstruction and 2. Menkes syndrome. Anesth Analg 1993; 77:856-857.

(3) Tobias J. Anaesthetic considerations in the child with Menkes' 3. syndrome. Can J Anaesth 1992; 39:712-715.

(4) Sugimoto M, Shindo K, Shingu K, Mori K. [Anesthetic 4. management of an infant with Menkes disease]. Masui 1993; 42:1351-1354.

J. YAMASHITA

M. YAMAKAGE

S. KAWANA

A. NAMIKI

Hokkaido, Japan
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Title Annotation:Correspondence
Author:Yamashita, J.; Yamakage, M.; Kawana, S.; Namiki, A.
Publication:Anaesthesia and Intensive Care
Article Type:Clinical report
Geographic Code:9JAPA
Date:Mar 1, 2009
Words:585
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