Anaesthesia and tuberous sclerosis

Abstract

The anaesthetic management of a patient with tuberous sclerosis undergoing two-stage scoliosis surgery is described. The patient suffered from severe mental retardation, seizures and facial angiofibromas. General anaesthesia using isoflurane and nitrous oxide in oxygen, supplemented with opioid analgesia and hydralazine, and labetalol to induce hypotension, appeared to be satisfactory. Postoperative recovery was delayed and complicated by pleural effusion, sputum retention and mild seizures. Tuberous sclerosis is an autosomal dominant disease well known for its neurocutaneous manifestations. Other organs such as the heart, lungs and kidneys may be involved. The potential problems in the anaesthetic management of a patient with tuberous sclerosis are discussed.

Tuberous sclerosis Anaesthetic considerations

“…Epidemiological studies report an incidence ranging between1:10000 to 1:170000. 2,3 Two gene loci have been identified on chromosone 9q34 (TSC1) and 16p13.3 (TSC2) and they occur in all racial groups. New mutations are common but since gene expression is variable the clinical manifestations may vary widely from the obvious to the subtle.…”

“…New mutations are common but since gene expression is variable the clinical manifestations may vary widely from the obvious to the subtle. 2,[4][5] No single feature is invariably present but the disease progresses with age making the clinical manifestations more obvious in adults. The classic triad of mental retardation, seizures and adenoma sebaceum or fibroangiomas 5 is present in only 30% of cases and about 6% have none of the triad.…”

“…The classic triad of mental retardation, seizures and adenoma sebaceum or fibroangiomas 5 is present in only 30% of cases and about 6% have none of the triad. 2 These children, or adults for that matter, may present for a variety of surgical procedures as a result of the uncontrolled widespread proliferation of hamartomas throughout the body. 2,3 From the anaesthesiologists point of view there are a number of potential pitfalls into which the unwary may fall.…”

“…2 These children, or adults for that matter, may present for a variety of surgical procedures as a result of the uncontrolled widespread proliferation of hamartomas throughout the body. 2,3 From the anaesthesiologists point of view there are a number of potential pitfalls into which the unwary may fall. Some of these could be life threatening.…”

“…7 Abdominal aortic aneurysms have been reported 7 as well as narrowing of major arteries. 2,3,8 Hypertension may occur secondary to renal tumor or renal arterial stenosis. 4,8 A baseline cardiac evaluation is therefore essential part of the pre- operative workup even in asymptomatic patients.…”