Anesthetic management of a patient with X-linked adrenoleukodystrophy and related Addison's disease and Brugada syndrome (original) (raw)

Anesthetic management of an adult patient with childhood x-linked adrenoleukodystrophy

2019

X-linked adrenoleukodystrophy is a disorder of peroxisomal fatty acid beta-oxidation causing the accumulation of very long chain fatty acids (VLCFA) in tissues. The hallmarks of the disease are CNS demyelination and primary adrenal insufficiency. The anesthetic considerations include mental retardation, seizure disorder, impaired adrenocortical function, immunosuppression, risk of iatrogenic fractures, hypotonia and delayed awakening. The anesthetic plan should be case specific. Pre-operative sedation should be avoided because of hypotonia of pharyngeal muscles. Corticosteroids should be given intra-operatively. We anesthetized our case using titrated doses of short acting intravenous and inhalational agents. We secured the airway with i-gel. Few cases have been reported in literature. Still there exists no established anesthetic management plan for these patients. To the best of our knowledge, this is the first reported use of titrated doses of anesthetic agents under i-gel suprag...

Anesthetic management of an adult patient with childhood x-linked adrenoleukodystrophy CASE REPORT

X-linked adrenoleukodystrophy is a disorder of peroxisomal fatty acid beta-oxidation causing the accumulation of very long chain fatty acids (VLCFA) in tissues. The hallmarks of the disease are CNS demyelination and primary adrenal insufficiency. The anesthetic considerations include mental retardation, seizure disorder, impaired adrenocortical function, immunosuppression, risk of iatrogenic fractures, hypotonia and delayed awakening. The anesthetic plan should be case specific. Pre-operative sedation should be avoided because of hypotonia of pharyngeal muscles. Corticosteroids should be given intra-operatively. We anesthetized our case using titrated doses of short acting intravenous and inhalational agents. We secured the airway with i-gel. Few cases have been reported in literature. Still there exists no established anesthetic management plan for these patients. To the best of our knowledge, this is the first reported use of titrated doses of anesthetic agents under i-gel supraglottic airway device for a case of x-linked adrenoleukodystrophy posted for orchidectomy, and with a favorable outcome.

X-linked adrenoleukodystrophy: pathogenesis and treatment

Current neurology and neuroscience reports, 2014

X-linked adrenoleukodystrophy (X-ALD) is a puzzling inborn error of metabolism with a strikingly heterogeneous clinical spectrum. All patients have mutations in the ABCD1 gene and accumulate very long chain fatty acids in all tissues. Virtually all male X-ALD patients develop adrenocortical insufficiency in childhood and progressive myelopathy and peripheral neuropathy in adulthood. A subset of male patients, however, develops a fatal cerebral demyelinating disease, cerebral adrenoleukodystrophy. Female patients also develop progressive myelopathy and peripheral neuropathy, but generally at a later age than males. They only very rarely develop adrenocortical insufficiency or cerebral adrenoleukodystrophy. This review proposes to simplify the classification of the clinical spectrum of X-ALD and reviews the largely unresolved pathophysiological mechanisms and the current treatment options.