Cri du Chat sendromu, 5P delesyonu saptanan beş aylık kız olgu
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Date
2008
Authors
Şen, Tolga Altuğ
Köken, Reşit
İmirzalıoğlu, Necat
Journal Title
Journal ISSN
Volume Title
Publisher
Uludağ Üniversitesi
Abstract
Beş aylık kız olgu yeterli tartı alamadığı için getirildi. Fizik muayenesinde boyu, kilosu, baş çevresi 3. persentilin altında olan olgunun açık renkli saçları, fasiyal dismorfizmi, yüksek damağı mevcuttu. Olgunun belirgin hipotonisi, motor retardasyonu saptanırken, tiz sesle ağlaması oldukça dikkat çekiciydi. Ekokardiyografide hemodinamik olarak önemsiz derecede olan sekundum tipi atrial septal defekt ve midtrabeküler ventriküler septal defekt saptandı. Kraniyal MRI’da 4. ventriküllerde genişleme ve bazal ganglionlarda miyelinizasyon gecikmesi bulunmaktaydı. Olgunun periferik kanından yapılan high resolution binding kromozom analizinde 5. kromozom kısa kolunda delesyon saptanınca, 5p delesyon (Cri du Chat) sendromu tanısı konuldu.
This five month-old girl was admitted to our clinic due to failure to thrive. On physical examination, her weight, length and head circumference was below the 3rd percentile, she had blond hair, facial dysmorphism and high arched palate. Pronounced hypotonia and motor retardation was present and high-pitched crying was striking. In echocardiographic examination, secundum type ASD and midtrabecular VSD without any important hemodynamic effect was present. In cranial MRI exmination, dilated 4th ventricles and delayed myelinisation in basal ganglia was detected. By the help of high resolution binding teqhnique, deletion in the short arm of the 5th chromosome was detected and diagnosis of Cri du Chat Syndrome was made.
This five month-old girl was admitted to our clinic due to failure to thrive. On physical examination, her weight, length and head circumference was below the 3rd percentile, she had blond hair, facial dysmorphism and high arched palate. Pronounced hypotonia and motor retardation was present and high-pitched crying was striking. In echocardiographic examination, secundum type ASD and midtrabecular VSD without any important hemodynamic effect was present. In cranial MRI exmination, dilated 4th ventricles and delayed myelinisation in basal ganglia was detected. By the help of high resolution binding teqhnique, deletion in the short arm of the 5th chromosome was detected and diagnosis of Cri du Chat Syndrome was made.
Description
Keywords
Kedi aağlaması, 5 nolu kromozom, Delesyon, Hipotoni, Tartı alamama, Cat cry, Chromosome 5, Deletion, Hypotonia, Failure to thrive
Citation
Şen, T. A. vd. (2008). "Cri du Chat sendromu, 5P delesyonu saptanan beş aylık kız olgu". Güncel Pediatri, 6(2), 86-88.