Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
권호 표지
DOI QR코드

DOI QR Code

A case of McKusick-Kaufman syndrome

  • Son, Se-Hyung (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Kim, Yoon-Joo (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Kim, Eun-Sun (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Kim, Ee-Kyung (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Kim, Han-Suk (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Kim, Beyong-Il (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Choi, Jung-Hwan (Department of Pediatrics, Seoul National University College of Medicine)
  • 투고 : 2010.08.26
  • 심사 : 2010.12.17
  • 발행 : 2011.05.15
PDF 다운로드
⟨ 이전 논문 다음 논문 ⟩

초록

McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children's Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She underwent abdominal sonography, magnetic resonance imaging, genitography and cystoscopy which confirmed HMC with a transverse vaginal septum. X-rays of the hand and foot showed bony fusion of the left third and fourth metacarpal bones, right fourth dysplastic metacarpal bone and phalanx, right PAP and hypoplastic left foot with left fourth and fifth dysplastic metatarsal bones. In addition, she had soft palate cleft, mild hydronephroses of both kidneys, hypoplastic right kidney with ectopic location and mild rotation, uterine didelphys with transverse vaginal septum and low-type imperforated anus. She was temporarily treated with ultrasound-guided transurethral aspiration of the HMC. Our patient with HMC and PAP was diagnosed with MKS because she has two typical abnormality of MKS and she has no definite complications of retinal disease, learning disability, obesity and renal failure that develop in Bardet-Biedl syndrome, but not in MKS until 33 months of age. Here, we describe a case of a Korean patient with MKS.

키워드

참고문헌

  1. McKusick VA. The William Allan Memorial Award Lecture: Genetic nosology: three approaches. Am J Hum Genet 1978;30:105-22.
  2. Stone DL, Agarwala R, Schaffer AA, Weber JL, Vaske D, Oda T, et al. Genetic and physical mapping of the McKusick-Kaufman syndrome. Hum Mol Genet 1998;7:475-81. https://doi.org/10.1093/hmg/7.3.475
  3. Slavotinek AM, Biesecker LG. Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review. Am J Med Genet 2000;95:208-15. https://doi.org/10.1002/1096-8628(20001127)95:3<208::AID-AJMG5>3.0.CO;2-J
  4. Kong HJ, Jee YM, Sung IK, Lee BC. A case of McKusick-Kaufman syndrome. J Korean Pediatr Soc 1992;35:829-33.
  5. Klein D, Ammann F. The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies. J Neurol Sci 1969;9:479-513. https://doi.org/10.1016/0022-510X(69)90091-4
  6. Schachat AP, Maumenee IH. Bardet-Biedl syndrome and related disorders. Arch Ophthalmol 1982;100:285-8. https://doi.org/10.1001/archopht.1982.01030030287011
  7. Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 1989;321:1002-9. https://doi.org/10.1056/NEJM198910123211503
  8. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 1999;36:437-46.
  9. David A, Bitoun P, Lacombe D, Lambert JC, Nivelon A, Vigneron J, et al. Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. J Med Genet 1999;36:599-603.
  10. Oguzkurt P, Tanyel FC, Hicsonmez A. Vaginal atresia and Bardet-Biedl syndrome association: a component or a distinct entity? J Pediatr Surg 1999;34:504-6. https://doi.org/10.1016/S0022-3468(99)90514-6
  11. Stoler JM, Herrin JT, Holmes LB. Genital abnormalities in females with Bardet-Biedl syndrome. Am J Med Genet 1995;55:276-8. https://doi.org/10.1002/ajmg.1320550306
  12. Srinivas V, Winsor GM, Dow D. Urologic manifestations of Laurence-Moon-Biedl syndrome. Urology 1983;21:581-3. https://doi.org/10.1016/0090-4295(83)90196-6
  13. Stone DL, Slavotinek A, Bouffard GG, Banerjee-Basu S, Baxevanis AD, Barr M, et al. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat Genet 2000;25:79-82. https://doi.org/10.1038/75637
  14. Slavotinek AM, Searby C, Al-Gazali L, Hennekam RC, Schrander-Stumpel C, Orcana-Losa M, et al. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Hum Genet 2002;110:561-7. https://doi.org/10.1007/s00439-002-0733-3
  15. Pawlik B, Mir A, Iqbal H, Li Y, Nürnberg G, Becker C, et al. A novel familial BBS12 mutation associated with a mild phenotype: implications for clinical and molecular diagnostic strategies. Mol Syndromol 2010;1:27-34. https://doi.org/10.1159/000276763