Proteus syndrome in a child aged 14 years and 11 months

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Abstract

Proteus syndrome is an extremely rare genetic disorder with problematic genetic identification. It has been hypothesized that it is related to a lethal dominant somatic mutation occurring at a post-zygotic stage of embryonic development. Clinical presentation of the disease has much in common with a  number of hereditary disorders and is frequently associated with malignancies. We present a clinical case of Proteus syndrome in a child aged 14 years and 11 months, in whom late diagnosis and late administration of specific treatment resulted in disease progression with the development of the end stage chronic renal disease. Only correct and early diagnosis allows for timely referral of a  patient to a specialized hospital for adequate care.

About the authors

T. V. Elizarova

Saratov State Medical University named after V.I. Razumovsky

Author for correspondence.
Email: anta-eliz@yandex.ru

MD, PhD, Assistant, Сhair of Pediatrics, Postgraduate Training Faculty,

112 Bol'shaya Kazach'ya ul., Saratov, Saratovskaya oblast', 410012

Россия

N. I. Zryachkin

Saratov State Medical University named after V.I. Razumovsky

Email: fake@neicon.ru

MD, PhD, Professor, Head of the Сhair of Pediatrics, Postgraduate Training Faculty,

112 Bol'shaya Kazach'ya ul., Saratov, Saratovskaya oblast', 410012

Россия

S. A. Khmilevskaya

Saratov State Medical University named after V.I. Razumovsky

Email: fake@neicon.ru

MD, PhD, Professor, Сhair of Pediatrics, Postgraduate Training Faculty,

112 Bol'shaya Kazach'ya ul., Saratov, Saratovskaya oblast', 410012

Россия

G. V. Zaytseva

Saratov State Medical University named after V.I. Razumovsky

Email: fake@neicon.ru

MD, PhD, Associate Professor, Сhair of Pediatrics, Postgraduate Training Faculty,

112 Bol'shaya Kazach'ya ul., Saratov, Saratovskaya oblast', 410012

Россия

M. A. Kuznetsova

Saratov State Medical University named after V.I. Razumovsky

Email: fake@neicon.ru

MD, PhD, Assistant, Сhair of Pediatrics, Postgraduate Training Faculty,

112 Bol'shaya Kazach'ya ul., Saratov, Saratovskaya oblast', 410012

Россия

N. S. Avdonchenkova

Engels Children's Hospital

Email: fake@neicon.ru

MD, Head of Pediatric Department,

23 Svobody ploshchad', Engels, Saratovskaya oblast', 413100

Россия

References

  1. Кузнецова МА, Зайцева ГВ, Зрячкин НИ, Макарова ОА, Хмилевская СА. Синдром Патау. Вопросы практической педиатрии. 2015;10(6):90–3.
  2. Biesecker L. The challenges of Proteus syndrome: diagnosis and management. Eur J Hum Genet. 2006;14(11):1151–7. doi: 10.1038/sj.ejhg.5201638.
  3. Biesecker LG. The multifaceted challenges of Proteus syndrome. JAMA. 2001;285(17):2240–3. doi: 10.1001/jama.285.17.2240.
  4. Cohen MM Jr. Proteus syndrome review: molecular, clinical, and pathologic features. Clin Genet. 2014;85(2):111–9. doi: 10.1111/cge.12266.
  5. Cohen MM Jr, Hayden PW. A newly recognized hamartomatous syndrome. Birth Defects Orig Artic Ser. 1979;15(5B):291–6.
  6. Wiedemann HR, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Schirg E. The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections. Eur J Pediatr. 1983;140(1): 5–12.
  7. Benyan AK, Fatehala ZF, AL-Hassani FAA. Proteus syndrome: a case report in Basra Iraq. Kufa Medical Journal. 2011;14(2):28–33.
  8. Семячкина АН, Новиков ПВ, Воинова ВЮ, Курбатов МБ, Синельщикова ТА, Кузьмина НС, Засухина ГД. Синдром Протея у детей: диагностика, лечение и профилактика. Российский вестник перинатологии и педиатрии. 2007;52(1):45–9.
  9. Ильина ЕГ, Ершова-Павлова АА, Бойша АС, Сапожникова ТВ, Фильчакова АМ, Селиванова ЛН, Шумская ЕА, Белозорова ТИ. Тяжелая форма синдрома Протея у новорожденного. Медицинская генетика. 2009;8(7): 39–41.
  10. Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N, Deardorff MA, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM, Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O'Brien K, Rothenberg S, Schwartzentruber DJ, Singhal V, Tirabosco R, Upton J, Wientroub S, Zackai EH, Hoag K, Whitewood-Neal T, Robey PG, Schwartzberg PL, Darling TN, Tosi LL, Mullikin JC, Biesecker LG. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med. 2011;365(7):611–9. doi: 10.1056/NEJMoa1104017.
  11. Zhou X, Hampel H, Thiele H, Gorlin RJ, Hennekam RC, Parisi M, Winter RM, Eng C. Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet. 2001;358(9277): 210–1. doi: http://dx.doi.org/10.1016/S0140-6736(01)05412-5.
  12. Nguyen D, Turner JT, Olsen C, Biesecker LG, Darling TN. Cutaneous manifestations of proteus syndrome: correlations with general clinical severity. Arch Dermatol. 2004;140(8): 947–53. doi: 10.1001/archderm.140.8.947.

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Copyright (c) 2017 Elizarova T.V., Zryachkin N.I., Khmilevskaya S.A., Zaytseva G.V., Kuznetsova M.A., Avdonchenkova N.S.

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This work is licensed under a Creative Commons Attribution 4.0 International License.

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