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

Russian Federation

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

Russian Federation

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

Russian Federation

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

Russian Federation

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

Russian Federation

N. S. Avdonchenkova

Engels Children's Hospital

Email: fake@neicon.ru

MD, Head of Pediatric Department,

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

Russian Federation

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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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