783

though we have noticed a great increase in satiety, nausea and vomiting were not features. Of crispbread, we said that "the first palatable guar formulation therefore represents an imporadvance in food technology".’5 That very acceptable guar foods may be formulated for diabetics has been well shown.16 We therefore cannot accept the criticisms of Dewar and her tant

colleagues. However, while Williams and James’ contribution has been of great value in emphasising that fibre and carbohydrate must so Dewar’s work emphasises the need for more of nutritional experimentation by medical people and, for those who enter this area, a willingness to learn something of food science. One would have hoped that as many as seven people would not have been asked to eat a nauseating meal. Perhaps Dewar and her colleagues should have tasted this first and heeded the advice that "if it makes you sick, don’t doit".

be

combined,

knowledge

Department of Gastroenterology, Central Middlesex Hospital, London NW10

University Laboratory of Physiology,

frequency of lymph-node involvement changed with lymphography from 66% (45/68) to 93 c (63/68). This diagnostic procedure detected abnormal retroperitoneal nodes in 8 of 11 patients who, on clinical grounds, had been classified as stage 0, and retroperitoneal adenopathies were demonstrated in 10 stage ii, m, or IV patients who had no otherwise detectable

lymph-node swellings. Lymphography should

be included among the staging procedures recommended for c.L.L. to assess the true stage 0 since patients without peripheral adenopathies may well have abnormal retroperitoneal nodes. Lymphography should also be done in patients with more advanced C.L.L., for a proper assessment of disease extension and for accurate evaluation of response to treatment.

National Tumour Institute, 20133 Milan, Italy

RENATO MUSUMECI ARMANDO SANTORO ANTONIO CERTO SILVIO MONFARDINI

RODNEY H. TAYLOR DAVID V. GOFF THOMAS M. S. WOLEVER

Oxford

INHERITANCE OF TUBEROUS SCLEROSIS

Department of Gastroenterology,

HASHMEIN FIELDEN

Central Middlesex Hospital

SiR,-Professor Lowry and colleagues (Jan. 27, p. 216), on a family with two affected children with tuberous sclerosis and ostensibly normal parents, imply that non-penetrance of a dominant gene is an unlikely explanation and propose autosomal recessive inheritance or gonadal mosaicism as other possible mechanisms. We suggest that it is not necessary to invoke such explanations: the extreme variability of this gene is well documentedl-3 and minor manifestations of the heterozygote state are very easy to miss. The study of two families with tuberous sclerosis seen in our genetics clinic impressed on us the variable expression of the gene for this disease and the paucity of findings in known heterozygotes for this autosomal dominant disorder. The first family presented with two male half-sibs with seizures. Careful examination of the four boys in the family (two each from different fathers) revealed depigmented typical "ash-leaf’ spots in all four. The mother, who had no neurological complaints, also had many depigmented areas but these were visible only under ultraviolet light. The second family presented because of seizures in the 4-month-old female proband. Family history revealed one maternal aunt and a maternal half-aunt (maternal half-sib of the proband’s mother) with seizure disorders. Examination with Wood’s lamp of family members showed the proband’s mother and grandmother to have large depigmented areas over the sacrum. The aunts with seizures and the proband had many typical ash-leaf spots. Additionally, the full aunt of the proband also had adenoma sebaceum of the face. Unless careful detailed examination (including Wood’s lamp, dilated eye examination and computerised axial tomographic scan when necessary) is done on all family members when the diagnosis of tuberous sclerosis is suspected, underdiagnosis will occur. In both of our families the mothers (and the grandmother in family 2) would have been called normal without Wood’s lamp examination. Variability of expression in tuberous sclerosis is well documented.I-3 Our cases demonstrate the need to examine possible carriers in detail. It seems more likely to us that the family presented by Lowry et al.’ and that reported by Wilson et al.4 represent limited expression or non-penetrance of a dominant gene rather than genetically distinct entities.

commenting

STAGING FOR CHRONIC LYMPHOCYTIC LEUKÆMIA

SIR,-Several staging systems for chronic lymphocytic leukxmia (C.L.L.), based on clinical findings and laboratory data, have been proposed.’-3 Such classifications correlate well with prognosis and survival and provide a basis for treatment planning.’-5 Stage 0 and stage I carry significantly different prognoses,l.3.4 but the only characteristic difference between NODAL INVOLVEMENT AND STAGE MODIFICATION BY LYMPHOGRAPHY

*No. with enlarged lymph-nodes.

the two stages is the presence of enlarged lymph-nodes in stage t. We have been exploring a possible role for lymphography as an aid to the staging in C.L.L. 68 consecutive patients were evaluated between September, 1961, and August, 1978. The table summarises the frequency of nodal involvement and shows how lymphography affected staging (Rai system’). The 13. Jenkins, D. J. A., Wolever, T. M. S., Hockaday, T. D. R., Leeds, A. R., Haworth, R., Bacon, S., Apling, E. C., Dilawari, J. ibid. 1977, ii, 779. 14 Apling, E. C., Leeds, A. R., Wolever, T. M. S., Jenkins, D. J. A. ibid. 1977, ii, 975 Jenkins, D. J. A., Wolever, T. M. S., Nineham, R., Taylor, R. H., Metz, G. L., Bacon, S., Hockaday, T. D. R.Br. med. J. 1978, ii, 1744. 16 Tredger, J., Ransley, J. J. hum.Nutr. 1978, 32, 427. 1 Rai, K. R., Sawitsky, A., Cronkite, E. P., Chanana, A. D., Levy, R. N., Pasternaek, B.S. Blood, 1975, 46, 219. 2 Binet,J L., Leporrier, M., Dighiero, G., Charron, D., D’Athis, P., Vaugier, G, Merle Beral, H., Natali, J. C., Raphael, M., Nizet, M. G., Follezou, J. Y Cancer, 1977, 40, 855. 3 Rundles, R. W., Moore, J. O. ibid. 1978, 42, 941. 4 Phillips, E. A., Kempin, S., Passe, S., Miké, V., Clarkson, B. Clins Hœmat. 15

1977, 6, 203. 5 Santoro, A., Musumeci, R., Rilke, F., Franchi, F., Valagussa, P., Bajetta, E., Monfardini, S. Tumori, 1979, 65, 39.

Division of Medical Genetics, Children’s Orthopedic Hospital and Medical Center University of Washington School of Medicine, Seattle, Washington 98195, U. S.A.

VIRGINIA P. SYBERT

JUDITH G.

HALL

1 Marshall, D., Saul, G. B., Sachs, E., Jr. New Engl J Med. 1959, 261, 1102 2. Bundey, S., Evans, K. J. Neurol. Neurosurg. Psychiat 1969, 32, 591. 3. Lagos, J. C., Gomez, M. R. Mayo Clin. Proc. 1969, 42, 26. 4. Wilson, J., Carter, C. O. Lancet, 1978, i, 340.

Staging for chronic lymphocytic leukaemia.

783 though we have noticed a great increase in satiety, nausea and vomiting were not features. Of crispbread, we said that "the first palatable guar...
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