Early Postnatal Diagnosis of Costello Syndrome

Abstract

Costello syndrome is a rare congenital disease with typical craniofacial and musculoskeletal features, cutaneous lesions, cardiac defects and cancer susceptibility. Affected patients show severe feeding difficulties for the first years of life and developmental delay. We present the case of a patient, in whom fetal tachycardia, polyhdramnios and physical characteristics led to an early diagnosis of Costello syndrome. Based on this patient we describe challenges and problems of therapeutic management of infants with Costello syndrome.

Zusammenfassung

Beim Costello Syndrom handelt es sich um eine äußerst seltene kongenitale Erkrankung. Auf­grund eines genetischen Defekts auf Chromosom 11 kommt es neben Hautveränderungen, Herzerkrankungen und einem erhöhten Tumorrisiko zu typischen kraniofazialen und muskuloskeletalen Stigmata. Wir präsentieren den Fall eines Kindes, bei dem eine fetale Tachykardie, ein Polyhydramnion und typische äußere Merkmale zur frühen Diagnose eines Costello Syndroms führten. Anhand dieses Patienten skizzieren wir die Herausforderungen und Probleme bei der Behandlung von Kindern mit Costello Syndrome.

Key words

genetic disorder - fetal tachycardia - feeding difficulties - cutaneous lesions - cardiac defects - cancer susceptibility

Schlüsselwörter

genetische Erkrankung - fetale Tachykardie - Ernährungsschwierigkeiten - Hautveränderungen - Herzerkrankungen - erhöhtes Tumorrisiko

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