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Z Geburtshilfe Neonatol 2023; 227(03): 227-230
DOI: 10.1055/a-2004-0683
Kasuistik

Frühgeborenes mit Makroglossie und persistierender Hypoglykämie – Beckwith-Wiedemann-Syndrom

Preterm with Macroglossia and Persistent Hypoglycemia – Beckwith-Wiedemann Syndrome
Victoria Ulrich
1   Neonatologie, Christliches Kinderhospital Osnabrück, Osnabrück, Germany
,
Pia Rullkötter
2   Kinderintensivstation, Christliches Kinderhospital Osnabrück, Osnabrück, Germany
,
Alexandros Rahn
3   Zentrum Kinderheilkunde und Jugendmedizin, Neonatologie, Medizinische Hochschule Hannover, Hannover, Germany
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Zusammenfassung

Das Beckwith-Wiedemann-Syndrom (BWS) ist eine genetische Erkrankung mit variablem Phänotyp, die sich mit folgenden Leitsymptomen darstellen kann: Makroglossie, Asymmetrie der Extremitäten, einseitiger Gigantismus, Vergrößerung der inneren Organe, Bauchwanddefekte, neonatale Hypoglykämie sowie einem erhöhten Risiko für embryonale Tumore. Die Prävalenz des Syndroms wird mit circa 1 von 10.000 bis 1 von 21.000 Lebendgeburten angegeben. Es beruht auf molekularen Veränderungen der Gencluster auf dem kurzen Arm von Chromosom 11, Bande P15.5. Wir stellen ein frühgeborenes Mädchen aus 32 0/7 Schwangerschaftswochen (SSW) vor. Postnatal wurde eine UPD(11)pat-Mutation diagnostiziert und damit das BWS genetisch gesichert. Die Besonderheit ihres Falls beruht auf der frühen Notwendigkeit der Zungenreduktionsplastik bei Trinkschwierigkeiten und Atemstörung sowie lang bestehenden, schwer einstellbaren Hypoglykämien.

Abstract

Beckwith-Wiedemann syndrome (BWS) is a genetic disease with phenotypic variability and the following signs: macroglossia, asymmetry, lateralised overgrowth, overgrowth of the internal organs, abdominal wall defects, neonatal hypoglycemia and increased risk of embryonic tumours. The prevalence is reported as being between 1 in 10,000 and 1 in 21,000 live births. The disease is caused by molecular changes in gene clusters on the short arm of chromosome 11 region P15.5. We present the case of a female, born preterm at 32 0/7 weeks. A UPD(11)pat-mutation was diagnosed postnatally. The particular feature of her case was an early tongue reduction surgery which was necessary because of drinking and breathing difficulties. Long-lasting hypoglycemia was difficult to treat.

Schlüsselwörter

Makroglossie - persistierende Hypoglykämie - Beckwith-Wiedemann

Key words

macroglossia - persistent hypoglycemia - Beckwith-Wiedemann


Publication History

Received: 17 August 2022

Accepted after revision: 30 November 2022

Article published online:
24 January 2023

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