Cri du chat syndrome in the newborn diabetic mother

Česká verzia

Authors: T. Šrámková ¹; J. Nikolinyová ¹; T. Baška ²; D. Kantárska ³
Authors place of work: Novorodenecká klinika SZU, Fakultná nemocnica s poliklinikou F. D. Roosevelta, Banská Bystrica ¹; Ústav verejného zdravotníctva, Jesseniova lekárska fakulta v Martine, Univerzita Komenského v Bratislave, Malá Hora ²; Oddelenie lekárskej genetiky, Fakultná nemocnica s poliklinikou F. D. Roosevelta, Banská Bystrica ³
Published in the journal: Čes-slov Pediat 2017; 72 (3): 182-186.
Category: Case Report

Summary

Cri du chat syndrome, also known as Lejeune's syndrome is a genetic disorder due to a deletion of chromosome 5. The condition is characterized by the typical high-pitched cry, which is similar to that of a meowing cat, dysmorphic features, slow weight gain and delayed development. In 10–15% of cases one of the parents is a carrier of a chromosomal abnormality. In 80% of cases, de novo mutations occurs. In the case study, Cri du chat syndrome occured in a girl with healthy parents, with de novo mutation. Her mother was diagnosed with gestational diabetes mellitus (GDM) during her pregnancy. GDM discovered during gravidity can be previously undetected diabetes mellitus type 2. (DM). The complications which occur at newborn babies of mothers with DM can differ depending on the treatment their mothers have and the standards of the glucose levels, prenatal and perinatal. Fetal harm can be very serious looks like as embryo and fetopathy. It is questionable if untreated diabetes can cause changes on the chromosome level.

Key words:
Cri du chat syndrome, gestational diabetes mellitus, newborn

Zdroje

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