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EDITORIALS: Finbar J K O'Callaghan Tuberous sclerosis BMJ 1999; 318: 1019-1020 [Full text]

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Tuberous sclerosis and unexpected child death

John L Emery   (22 April 1999)

Tuberous sclerosis

T F Sandeman   (30 April 1999)

Tuberous sclerosis - renal ultrasound screening of first degree relatives

Diarmuid O'Donovan   (14 June 1999)

Tuberous sclerosis and unexpected child death 22 April 1999
John L Emery Send response to journal: Re: Tuberous sclerosis and unexpected child death	The leading article on tuberous sclerosis (1) is timely. Tuberous sclerosis is probably more ubiquitous than many realise. In a recent study in which we have been re-surveying the histology from families where there have been two children presenting as unexpected child deaths (cot deaths), in a series of approximately 100 such families we found two families where hamartomatous changes were present in the tissues and aspects of the family history compatible with tuberous sclerosis were present. John L Emery Emeritus Professor of Paediatric Pathology Division of Child Health Stephenson Wing, University of Sheffield The Children's Hospital Western Bank Sheffield S10 2TH 1 O'Callaghan F. Tuberous sclerosis. BMJ 1999;318:1019-20
Tuberous sclerosis 30 April 1999
T F Sandeman Send response to journal: Re: Tuberous sclerosis	The editorial in the BMJ of 17th April 1999 on this distressing condition starts with the information that it is "a dominantly inherited syndrome of high penetrance". In spite of this social authorities, at least in Australia, forbid the sterilisation of sufferers. Where the intellectual deficit is severe this imposes an additional strain on the family as the child becomes an adolescent with all the sexual urges that accompany that transition. Many handicapped sufferers are cared for during all or part of the day in centres with others with similar although not necessarily genetic disabilities. Their infirmity does not prevent them from being attracted to others in the same environment. Where the likelihood of a pregnancy resulting in the transmission of the genetic defect is so high there must be some common sense argument in favour of vasectomy or, in females, at least tying of the tubes. Hysterectomy would obviate the recurring alarm of menstruation in a girl incapable of understanding the changes involved. Is the genetic pool to be polluted further as a consequence of the dictates of a scientifically naive but sociologically blinkered bureaucracy? This is not "ethnic cleansing" or even the eugenics of former years. It is purely an acknowledgement that intercourse is a natural desire and it is almost impossible to achieve birth control by any other means in a group of persons who are not equipped to be parents and are likely (if not inevitably) to produce children destined to be unable to live full and satisfying lives. It seems a better alternative than advocating abortion. T F Sandeman, M.D., Ch.B., F.R.A.N.Z.C.R., F.R.C.R. Parkville Victoria Australia 3052
Tuberous sclerosis - renal ultrasound screening of first degree relatives 14 June 1999
Diarmuid O'Donovan, Registrar in Public Health Medicine East Sussex, Brighton & Hove Health Authority Send response to journal: Re: Tuberous sclerosis - renal ultrasound screening of first degree relatives	EDITOR - In his editorial on tuberous sclerosis, O’Callaghan states that population based studies are needed to answer questions about the potentially lethal complications of this disease. He makes the point that current recommendations for aggressive intervention in the management of renal angiomyelipomas (AMLs) in tuberous sclerosis patients, based on findings from small studies, may not be justified. We support this and draw attention to the implications for recommendations about screening for lesions in the first degree relatives of patients with tuberous sclerosis. Currently, five yearly renal ultrasound screening is recommended for first degree relatives of patients with tuberous sclerosis. However, as there is uncertainty about the best way to manage renal AMLs diagnosed in tuberous sclerosis patients, we consider screening for AMLs in their asymptomatic relatives is not appropriate. Screening for a disease should not be undertaken when there is no good evidence to show that treatment is appropriate and effective and that the benefits of early diagnosis and treatment outweigh the social and psychological disbenefits of screening. Moreover, as only about one third of cases of tuberous sclerosis are inherited, screening for AMLs in the relatives of the majority of tuberous sclerosis patients is not relevant. Diarmuid O’Donovan Registrar in Public Health Medicine Penny Bridger Consultant in Public Health Medicine East Sussex Brighton & Hove Health Authority Friar’s Walk Lewes East Sussex BN7 2PB References 1. Webb D, Osborne J. Tuberous sclerosis. Arch Dis Childhood 1995;72:471-474. 2. O'Callaghan F, Shiell A, Osborne J, Martyn C. Prevalence of tuberous sclerosis estimated by capture- recapture analysis. Lancet 1998;351:1490 3. Webb D, Clarke A, Fryer A, Osborne J. The cutaneous features of tuberous sclerosis - a population study. B J Dermatol 1996;135:1-5. 4. Flanagan N, O'Connor W, McCartan B, Miller S, McMenamin J, Watson R. Developmental enamel defects in tuberous sclerosis. J Med Genet 1997;34:637-639. 5. Webb D, Fryer A, Osborne J. Morbidity associated with tuberous sclerosis: a population study. Dev Med Child Neurol 1996;38:146-155. 6. Torres V, Zincke H, King B, Bjornsson J. Renal manifestations of Tuberous Sclerosis Complex. In: Sessa A, Conte F, Meroni M, Battini G, eds. Hereditary Kidney Diseases. Basel: Karger, 1997;64-73. 7. Wilson, JMG, Jungner, G. The principles and practice of screening for disease. Public Health Papers 34. 1968. Geneva, World Health Organisation. 8. Stewart-Brown S, Farmer A. Screening could seriously damage your health. BMJ 1997;314:533-534.