دورية أكاديمية
Stuve-Wiedemann Sendromu: Nadir Bir Klinik Antite.
| العنوان: | Stuve-Wiedemann Sendromu: Nadir Bir Klinik Antite. |
|---|---|
| العنوان البديل: | Stuve-Wiedemann Syndrome: A Rare Clinical Entity. |
| المؤلفون: | Demir, Gizem Ürel1 gizemurel@gmail.com, Şimşek Kiper, Pelin Özlem1, Utine, Gülen Eda1 |
| المصدر: | Gazi Medical Journal. 2020, Vol. 31 Issue 4, p642-644. 3p. |
| مصطلحات موضوعية: | *LEUKEMIA inhibitory factor, *LEG length inequality, *GENETIC disorders, *DYSAUTONOMIA, *ARTHROGRYPOSIS, *SHORT stature |
| الملخص (بالإنجليزية): | Stuve-Wiedemann syndrome is an autosomal recessive disorder characterized by autonomic dysfunction, respiratory failure, swallowing difficulties and skeletal findings, including short stature, bowed long bones, camptodactyly, and joint contractures. Mutations in the leukemia inhibitory factor receptor gene on chromosome 5p13 were identified as causative for the syndrome. Herein, we report on an infant diagnosed with Stuve-Wiedemann syndrome which was confirmed by molecular analysis. A 6-month-old girl was referred for episodic hyperthermia, camptodactyly, and leg length discrepancy. Radiographic examination revealed cortical sclerosis and bowing of the lower extremities with osteopenia. Considering the diagnosis of Stuve-Wiedemann syndrome, leukemia inhibitory factor receptor gene sequence analysis was performed and a pathogenic homozygous mutation (c.2074C>T, p.Arg692Ter) was revealed in the patient, which was heterozygous in the parents. In conclusion, Stuve-Wiedemann syndrome, a genetic disorder of the skeleton characterized by bowed long bones and osteopenia, should be kept in mind in the differential diagnosis of patients presenting with episodic hyperthermia, respiratory distress and swallowing dysfunction. [ABSTRACT FROM AUTHOR] |
| Abstract (Turkish): | Stuve-Wiedemann sendromu boy kısalığı, uzun kemiklerde eğrilik, kamptodaktili ve eklem kontraktürleri gibi iskelet sistemi bulgularının yanısıra otonomik disfonksiyon, solunum yetmezliği ve yutma disfonksiyonu ile karakterize otozomal resesif geçişli bir bozukluktur. Etiyolojiden kromozom 5p13 bölgesinde yer alan leukemia inhibitory factor receptor genindeki mutasyonlar sorumludur. Bu yazıda Stuve-Wiedemann sendromu tanısı konulan ve moleküler analiz ile doğrulanan bir süt çocuğu sunuldu. Altı aylık kız hasta epizodik hipertermi, kamptodaktili ve bacaklar arasında uzunluk farkı nedeniyle değerlendirildi. Radyografik incelemede yaygın osteopeni ile alt ekstremitelerde skleroz artışı ve eğrilik deformitesi saptandı. Stuve-Wiedemann sendromu ön tanısı ile yapılan leukemia inhibitory factor receptor geni dizi analizinde hastada literatürde daha önce bu hastalık ile ilişkili olarak bildirilmiş c.2074C>T (p.Arg692Ter) mutasyonu homozigot, anne ve babasında heterozigot olarak saptandı. Sonuç olarak uzun kemiklerde eğrilik ve osteopeni ile karakterize iskeletin genetik bir hastalığı olan Stuve-Wiedemann sendromu epizodik hipertermi, solunum sıkıntısı ve yutma disfonksiyonu ile başvuran hastaların ayırıcı tanısında mutlaka akılda tutulmalıdır. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: | Academic Search Index |
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