Adrenomyodystrophy

Characterized by primary adrenal insufficiency, dystrophic myopathy, severe psychomotor retardation, fatty degeneration of the liver, megalocornea, chronic constipation, and terminal massive bladder ectasia. There are ACTH-producing microadenomas in the pituitary gland. It is suggested that this medical condition is different from adrenoleukodystrophy or glycerol kinase deficiency.

The incidence remains unknown. It has been described in 1982 in two brothers, both of whom died in childhood. It is believed to be inherited as an X-linked recessive transmission.

Characterized by the presence of primary adrenal insufficiency, dystrophic myodystrophy, severe psychomotor retardation, megalocornea, terminal massive bladder ectasia, fatty liver degeneration, and chronic constipation. Other clinical features include osteoporosis, short stature, and/or dwarfism. The condition is lethal in infancy and childhood. Laboratory findings demonstrate an increase in plasmatic ACTH. Intravascular volume depletion and electrolyte imbalances may also be present. It is believed to be caused by ACTH-producing pituitary microadenomas.

It is recommended to obtain an endocrinology consultation before anesthesia. It is likely that glucocorticoid replacement therapy will have been initiated and stress doses of glucocorticoids will be required perioperatively. Evaluate intravascular fluid status. Preoperative laboratory investigations should include serum electrolytes and glucose levels, cell blood count and differential, and liver enzyme function. A complete evaluation of the neuromuscular function and the severity of the dystrophic myopathy must be obtained. Because of the potential severity of the muscular involvement, it might be important to evaluate the pulmonary function (forced vital capacity [FVC], peak expiratory flow rate [PEFR], forced expiratory volume in one second [FEV1], FEV1/FRC ratio, arterial blood gas analysis, chest x-rays) when applicable.

Patients may be at risk for intra-operative hypotension and cardiovascular collapse due to inadequate cortisol stress response during induction of anesthesia or as a response to surgical stimulus. The potential association of hypovolemia and electrolyte disturbances must also be considered. The administration of supplement intravenous glucocorticoid doses is required preoperatively. Patients are also at increased risk for hyperkalemia resulting in arrhythmias and cardiac arrest following the administration of succinylcholine. Variable response to nondepolarizing muscle relaxants has been reported and proper neuromuscular monitoring must be used. Behavioral problems as a result of mental retardation may render the induction of anesthesia difficult. The use of preoperative anxiolytic and sedative medications might be appropriate when clinically indicated. Patients may be at risk for corneal abrasions secondary to megalocornea. Mechanical ventilation may be required postoperatively depending on the duration and type of surgery and degree of neuromuscular dysfunction.

The use of succinylcholine is considered a relative contraindication. Nondepolarizing muscle relaxants should be used, however, the possibility of prolonged effect must be prevented by the use of a peripheral nerve stimulator.