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At a glance

Characterized by primary adrenal insufficiency with adrenocorticotropic hormone (ACTH)-producing microadenomas in the pituitary gland, dystrophic myopathy, severe psychomotor retardation, fatty degeneration of the liver, massive bladder dilatation, and chronic constipation. It has been suggested that this medical condition should be distinguished from adrenoleukodystrophy or glycerol kinase deficiency.

Incidence

Remains unknown. The disorder has been described in 1982 in two brothers, both died in early childhood (one in the second and the other one in his fourth year of life). Both pregnancies were uneventful.

Genetic inheritance

Believed to be X-linked recessive.

Clinical aspects

For both patients, the first hospitalization was due to severe failure to thrive with hyponatremia and hyperkalemia. Primary adrenal insufficiency developed gradually during the first year of life. Laboratory findings demonstrated increased plasma concentrations of ACTH, suggested to be caused by pituitary microadenomas. Neurologically, both boys suffered from severe psychomotor delay with autism, profound floppiness with inability to sit up. Failure to thrive remained a problem despite glucocorticoid substitution. Dystrophic myopathy was characterized by elevated muscle enzymes and confirmed by electromyography and biopsy. Other clinical features included short stature, megalocorneae, osteoporosis, fatty liver degeneration, and chronic constipation. Another striking finding was progressive bladder dilatation with a bladder volume of approximately 1,000 mL. Except for signs suggestive of demyelinization, autopsy of brain and spinal cord were described as normal.

Precautions prior to anesthesia

If possible, it is recommended to discuss the management with an endocrinologist before anesthesia. It is likely that gluco- and mineralocorticoid replacement therapy have already been initiated and stress dose(s) of glucocorticoids will be required perioperatively. Evaluate intravascular fluid status. Preoperative laboratory investigations should include serum electrolytes and glucose levels, a complete blood count, serum creatinine, urea, liver enzymes, and liver function tests. 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 and depending on the type and extent of the planned surgery, it might be advisable to also evaluate the pulmonary function, arterial blood gas analysis and chest radiograph. Patients should take their regular steroid replacement drugs on the day of surgery and serum electrolytes and glucose should be checked again just prior to induction of anesthesia. Behavioral problems as a result of mental retardation may render the induction of anesthesia challenging and the administration of preoperative anxiolytic/sedative premedication might be beneficial.

Anesthetic considerations

Patients may be at risk for intraoperative hypotension and cardiovascular collapse due to hypovolemia and inadequate stress response during induction of anesthesia. The potential association of hypovolemia and electrolyte disturbances must be considered. The administration of an intravenous glucocorticoid stress-dose on induction of anesthesia is required and may need to be repeated depending on the duration of surgery. Patients ...

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