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A disorder characterized by progressive demyelinization of the central nervous system and peripheral adrenal insufficiency resulting from adrenal gland atrophy.

Adrenomyeloneuropathy; Addison Disease and Cerebral Sclerosis; Siemerling-Creutzfeldt Disease; Bronze Schilder Disease; Melanodermic Leukodystrophy.

Genetic disorder, mainly affecting males but 50% of female heterozygotes have symptoms.

1:15,000 to 1:100,000 in general population.

X-linked with six phenotypes, classified according to age of onset, organ involvement, and neurological progression rate. Most common form: X-adrenoleukodystrophy childhood form: (most severe); second most common form: adrenomyeloneuropathy. Gene locus is the long arm of X chromosome at position 28 (Xq28), which codes for an 80-kDa transmembrane transporter protein. Mutation can be missense, frameshift, nonsense, or deletion. This is distinct from neonatal adrenoleukodystrophy (autosomal recessive).

Very-long-chain fatty acids (VLCFA) are metabolized by VLC acyl-CoA synthetases in peroxisomes or mitochondrion. Adrenoleukodystrophy gene mutation may impair the peroxisomal import of this synthetase, leading to VLCFAs (>C22) accumulation. It is uncertain whether these long, rigid, acyl fatty acids reduce membrane fluidity, causing an inflammatory response in the nervous system (demyelination), and reduce steroid synthesis in the adrenal glands.

Clinical course with demyelinization signs and association of peripheral adrenal insufficiency in 80% of children forms and 65% of adult forms. Diagnosis is confirmed by abnormally high saturated VLCFAs and C26:C22 ratio in blood or accessible tissues. Radiologic imaging reveals symmetrical hypodense corpus callosum and periventricular white matter. Prenatal (chorion villus biopsy) and female heterozygotes (VLCFA profiles) diagnosis available.

X-adrenoleukodystrophy childhood form: normal childhood development until a mean age of 7 years, followed by parietal-occipital demyelination with rapidly progressive dementia, behavioral changes, visual/auditory defect, and seizures; 90% of patients have an adrenal insufficiency. Average life span is 9.4 years. Adrenomyeloneuropathy: milder form with adult onset. Spinal cord involvement (paraparesis/sphincter problems) is more common than cerebral (50% of cases) or adrenal (30% of cases) dysfunction. Female heterozygotes: similar clinical picture as adrenomyeloneuropathy; however, presenting normal adrenal glands (99% of cases). Often misdiagnosed as multiple sclerosis.

Evaluate the neurological status for evidence of cerebral and spinal demyelination (clinical, EEG, CT/MRI, nerves velocity). Determine if adrenal dysfunction is present and adequately treated. Blood examination: electrolytes, cell blood count, glucose, cortisol levels.

N.B: Thrombocytopenia is often observed in patients treated with Lorenzo's oil (40% of cases). As well, the use of this oil may cause significant cardiac dysfunction.

Rapid sequence induction is indicated if airway reflexes are impaired. The presence of dementia as a result of neuronal demyelination may make the patient sensitive to opioids. Regional anesthesia can be difficult (scoliosis) or contraindicated (thrombocytopenia). Osteoporosis (hypogonadism) calls for careful intraoperative positioning.

Succinylcholine should be avoided in the presence of spinal cord compression or acute demyelination. Hypnomidate should also be omitted (depresses adrenal function). Meperidine, ketamine, sevoflurane and enflurane are relative contraindications if seizures are present. Doses ...

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