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Published in: Italian Journal of Pediatrics 1/2016

Open Access 01-12-2016 | Case report

Recombinant growth hormone therapy in a girl with costello syndrome: a 4-year observation

Authors: Ewa Blachowska, Elżbieta Petriczko, Anita Horodnicka-Józwa, Agata Skórka, Magdalena Pelc, Małgorzata Krajewska-Walasek, Mieczysław Walczak

Published in: Italian Journal of Pediatrics | Issue 1/2016

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Abstract

Background

Costello syndrome is a rare syndrome of multiple congenital anomalies. The typical clinical traits include dysmorphic craniofacial features, skin hyperpigmentation and excess, feeding difficulties leading to severe postnatal growth retardation, short stature, joint hypermobility, and delayed psychomotor development. Additionally, Costello syndrome may present with an increased incidence of congenital heart disease, hypertrophic cardiomyopathy, and increased risk of both benign and malignant tumors. Furthermore, cases of patients with endocrine disorders such as adrenal insufficiency and endogenous growth hormone deficiency have also been documented.

Case presentation

We present a patient with Costello syndrome who has been successfully treated with recombinant human growth hormone (rhGH) for almost 4 years.

Conclusions

The possibility of growth hormone (GH) treatment can be considered in cases of documented GH deficiency in patients with Costello syndrome, but only under close oncologic and cardiologic supervision.
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Metadata
Title
Recombinant growth hormone therapy in a girl with costello syndrome: a 4-year observation
Authors
Ewa Blachowska
Elżbieta Petriczko
Anita Horodnicka-Józwa
Agata Skórka
Magdalena Pelc
Małgorzata Krajewska-Walasek
Mieczysław Walczak
Publication date
01-12-2016
Publisher
BioMed Central
Published in
Italian Journal of Pediatrics / Issue 1/2016
Electronic ISSN: 1824-7288
DOI
https://doi.org/10.1186/s13052-015-0209-4

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