Achondroplasia associated with pelvic lipomatosis

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Steinmetz I, Reganzerowski A, Brenneke B, Häussler S, Simpson A, White NJ. Rapid identification of Burkholderia pseudomallei by latex agglutination based on an exopolysaccharide-specific monoclonal antibody. J Clin Microbiol 1999; 37: 225–28. Bauernfeind A, Roller C, Meyer D, Jungwirth R, Schneider I. Molecular procedure for rapid detection of Burkholderia mallei and Burkholderia pseudomallei. J Clin Microbiol 1998; 36: 2737–41.

Achondroplasia associated with pelvic lipomatosis Sir—We enjoyed Ian Young’s Dec 19/26 commentary,1 and we report a curious case of achondroplasia associated with pelvic lipomatosis, a rare and poorly understood entity characterised by proliferation of mature adipose tissue in the pelvic retroperitoneal space. 2,3 The patient, a 27-year-old man with dwarfism, was diagnosed with achondroplasia at another institute. He was admitted to our hospital as an emergency because of attempted suicide. He had several abdominal injuries, for which repair surgery was successfully undertaken. To ascertain damage to the urinary tract, excretory urography was done, which revealed a compressed pear-shaped bladder (figure). Computed tomography disclosed proliferation of fatty tissue in the pelvic retroperitoneal space (figure). In comparison with neurological and respiratory problems, pelvic lipomatosis may be a minor complication of achondroplasia, because pelvic lipomatosis usually shows only minor symptoms. However,

Radiograph of the bladder (upper) and computed tomographic scan of the pelvic retroperitoneal space (lower)

THE LANCET • Vol 353 • March 20, 1999

there may be many more subclinical cases of achondroplasia in this condition, since the rarity of pelvic lipomatosis may be due to a lack of awareness by physicians.2 Although the aetiological factors in the pathogenesis of this syndrome are still unknown, physical, metabolic, or other factors may play a part. However, in our case we believe there was “a complication of neglect”. *Haruki Kume, Yoko Kume, Kinya Takamoto Department of Urology, Faculty of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan; and Division of Orthopaedics and Urology, Dainich Hospital, Yotsukaido City 1

Young ID. Achondroplasia: a case of neglect? Lancet 1998; 352: 1950–51. 2 Hall MC, von Eschenbach AC, Ames FC. Diseases of retroperitoneum. In: Gillenwater JY, Grayhack JT, Howards SS, Duckett JW, eds. Adult and pediatric urology. St Louis, MO: Mosby, 1996: 1123–58. 3 Klein FA, Smith MJV, Kasenetz I. Pelvic lipomatosis: 35-year experience. J Urol 1988; 139: 998–1001.

Sir—Ian Young 1 mentions that careful multidisciplinary coordinated assessment of individuals with achondroplasia is needed. Although persons with achondroplasia certainly tend to be well adjusted and happy, they have medical problems such as cervical cord compression, spinal stenosis, kyphosis, apnoea, otitis media, and hearing loss at all ages. We completely agree with the necessity of careful assessment, and we would like to emphasise the growth problem in achondroplasia. Severe growth retardation is a serious problem in patients with achondroplasia, both psychologically and physically. Adult height is predicted at 118–145 cm for men and 112–136 cm for women with achondroplasia. We investigated the efficacy of human growth hormone in 42 children (16 boys and 26 girls, age 3–14 years) with achondroplasia.2 Patients were treated with growth hormone subcutaneously at a dose of 0·5 IU/kg per week (eight patients) or 1·0 IU/kg per week (34 patients), in six or seven divided dose per week for at least 2 years. Annual height gain was significantly improved during growth hormone therapy from 3·9 cm per year (SD 1·0) to 6·5 cm per year (1·8) in the first year and 4·6 cm per year (1·6) in the second year. During treatment, we undertook careful examination on respiratory, neurological, and orthopaedic complications. No adverse effects were seen during the therapy. Growth hormone has proved safe and effective in children with

achondroplasia.2,3 On the basis of these results, in 1997 the Japanese Ministry of Public Welfare approved the use of growth hormone for children with achondroplasia. The efficacy of growth hormone height should be examined by long-term study. However, growth hormone is capable of improving growth rate without ill effects. In treatment of severe growth retardation in children with achondroplasia, multidisciplinary treatment has been considered. From our results, growth hormone therapy is an additional method for the treatment of short stature in achondroplasia. Taeko Ono, Hiroyuki Tanaka, Tadashi Moriwake, Susumu Kanzaki, *Yoshiki Seino Department of Pediatrics, Okayama University of Medical School, 2-5-1 Shikata-cho, Okayama 700-8558, Japan 1

Young ID. Achondroplasia: a case of neglect? Lancet 1998; 352: 1950–51. 2 Tanaka H, Kubo T, Yamate T, et al. Effect of growth hormone therapy in children with achondroplasia: growth pattern, hypothalamic-pituitary function, and genotype. Eur J Endocrinol 1998; 138: 275–80. 3 Yamate T, Kanzaki S, Tanaka H, et al. Growth hormone (GH) treatment in achondroplasia. J Pediatr Endocrinol 1993; 6: 45–52.

Mortality in the CHAOS trial Sir—We read with interest Malcolm Mitchinson and colleagues’ further report (Jan 30, p 381) 1 of the Cambridge Heart Antioxidant Study (CHAOS) study. 2 The CHAOS investigators suggest that an intentionto-treat analysis may lead to underestimation of the benefits of vitamin E taken by people with angiographically proven atherosclerosis. However, the results of the longer mortality follow-up presented by Mitchinson and colleagues leave the questions regarding the safety of vitamin E supplementation unanswered. We have collated the results of the latest CHAOS report, together with findings from a large randomised trial carried out in Finland (ATBC of men with a history of myocardial infarction),3 which was not discussed in the latest CHAOS report (table). As the table shows, the nonsignificant excess in cardiovascular and all-cause mortality in the first CHAOS report2 is also present in the extended follow-up beyond the original date. This observation suggests that this excess mortality

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