Tuberous sclerosis

A neurocutaneous disease associated with hamartomas in multiple organ systems, skin lesions, and learning difficulties. Skeletal muscle is not involved. It is an autosomal dominant condition and recent genetic linkage studies have implicated abnormalities of the 9q34 protein encoded by the tuberin and hamartin genes. Both are tumour suppressor genes on chromosomes 9 and 16 (O'Callaghan 1999). For full diagnostic criteria, see Webb and Osbourne (1995).

Preoperative abnormalities

1. Cutaneous. Facial and ungual angiofibroma.

2. Neurological. Mental retardation in 60%, and seizures in 80-90%. Giant cell astrocytomas, obstruction of the third ventricle, and retinal astrocytomas.

3. Cardiovascular. Cardiac rhabdomyomas may cause outlet obstruction.The presence of a cardiomyoma increases the risk of pre-excitation and arrhythmias, in particular WPW syndrome (O'Callaghan et al 1998). Cardiomyomas regress with the passage of time and surgery may be required only occasionally in neonates, if the tumour causes obstructive heart failure.

4. Renal angiomyolipoma, which may bleed, and renal cysts.

5. Occasionally, pulmonary lymphangiomatosis occurs.

6. In a series of 355 patients at the Mayo Clinic, 49 died.The main causes of death were cardiac failure, renal disease, brain tumours, and lymphangiomatosis of the lung (Shepherd et al 1991).

Anaesthetic problems

1. Cardiac arrhythmias associated with WPW syndrome.

2. Rupture of a renal angiomyolipoma and placental abruption occurred in a 37-week-pregnant woman.A right nephrectomy was performed (Forsnes et al 1996). Severe haemorrhage can occur in those renal angiomyolipomas that exceed 8 cm in diameter. Laparotomy was required for bleeding into a tumour that resulted in an Hb of 5 g dl-1 (Ong & Koay 2000).

3. Anaesthesia has been reported for repair of an 8-cm-diameter aortic aneurysm in a 4-year-old child (Tsukui et al 1995).

4. The problems of anaesthesia for a patient with epilepsy (Nott & Halfacre 1996).

Management

1. Careful examination and investigation for involvement of different organ systems, in particular pulmonary involvement (Lee et al 1994).

2. Management of the patient with seizures.

3. ECG and echocardiography if cardiac rhabdomyoma is suspected.

Bibliography

Forsnes EV, Eggelston MK, Burtman M 1996 Placental abruption and spontaneous rupture of renal angiomyolipoma in a pregnant woman with tuberous sclerosis. Obstetrics & Gynecology 88: 725.

Lee JJ, Imrie M,Taylor V 1994 Anaesthesia and tuberous sclerosis. British Journal of Anaesthesia 73: 421-5.

Nott MR, Halfacre J 1996 Anaesthesia for dental conservation in a patient with tuberous sclerosis. European Journal of Anaesthesiology 13: 413-15.

O'Callaghan FJ 1999 Tuberous sclerosis. British Medical Journal 318:1019-20.

O'Callaghan FJ, Clarke AC,Joffe H et al 1998 Tuberous sclerosis complex and Wolff—Parkinson—White syndrome.Archives of Disease in Childhood 78:159-62.

Ong EL, Koay CK 2000 Tuberous sclerosis presenting for laparotomy.Anaesthesia & Intensive Care 28: 94-6.

Shepherd CW, Gomez MR, Lie JT et al 1991 Causes of death in patients with tuberous sclerosis. Mayo Clinic Proceedings 66:792-6.

Tsukui A, Noguchi R, Honda T et al 1995 Aortic aneurysm in a four-year-old child with tuberous sclerosis. Paediatric Anaesthesia 5: 67-70.

Webb DW, Osbourne JP 1995 Tuberous sclerosis. Archives of Disease in Childhood 72: 471-4.

Was this article helpful?

0 0

Post a comment