Sotos Sendromlu Bir Olgu Sunumu

Year 2014, Volume: 8 Issue: 2, 94 - 97, 01.08.2014

Serkan Türkuçar Mehmet Canpolat Ayşe Bayram Kaçar Hakan Gümüş Hüseyin Per Sefer Kumandaş

Abstract

Uzun boy, boy persentilinin +2.5 standart deviasyon (SD) üzerinde olmasıdır. En sık endokrinolojik problemlerle birlikte görülmektedir. Dismorfik bulgular eşlik ettiğinde Marfan Sendromu, homosistinüri, Beckwith-Wiedeman, nörofibromatozis, Weaver, Proteus, Frajil X ve Sotos Sendromu gibi sendromik hastalıklar da ayırıcı tanıda düşünülmelidir. Sotos sendromunda uzun boyun yanı sıra, makrosefali, el ve ayaklarda aşırı büyüme ile giden orantısız büyüme ve dismorfik yüz görünümü görülmektedir. Ayrıca konjenital kardiyak defektler, mental retardasyon ve davranışsal problemler de eşlik edebilir. Yenidoğan döneminden itibaren boy, vücut ağırlığı ve baş çevresi persentilleri >97 olan, antenatal dönemdeki fetal ölçümlerde 3 hafta ileri olduğu anamnezle öğrenilen, konjenital kardiyak hastalık (atrial septal defekt ve patent duktus arteriosus) nedeniyle opere edilen olgunun yapılan fizik incelemede alın çıkıklığı, hiperteleroizm, telekantus, kemerli burun ve el ve ayaklarda aşırı büyüklük tespit edildi. Takipleri sırasında yapılan psikometrik değerlendirmelerde, zeka yaşının takvim yaşına göre geri olduğu belirlenen olguda sotos sendromu düşünülerek genetik çalışma yapıldı. Nuclear receptor binding SET-Domain 1 (NSD-1) gen mutasyonu pozitif gelen hastaya Sotos Sendromu tanısı konuldu. Bu yazıda, boy uzunluğu ile izlenen ve Sotos sendromu tanısı alan bir olgu sunulmuştur.

Keywords

Çocuk, Sotos sendromu, Uzun boy

Sotos Syndrome: A Case Report

Abstract

Tall Stature means that the person’s height percentile is above +2.5 standard deviation. It is commonly seen with endocrine problems. If it is accompanied with dysmorphic problems, the differential diagnosis includes metabolic disorders such as Marfan’s syndrome, homocystinuria, Beckwith–Wiedemann syndrome, neurofibromatosis, Weaver’s syndrome, Proteus and Proteus-like syndromes, fragile X syndrome and Sotos’ syndrome. In addition to increased height, Sotos syndrome patients may also have macrocephaly, excessive and disproportionate growth of the hands and feet, and a dysmorphic facial appearance. Congenital heart defects, mental retardation and behavioral problems may also be present. Our patient’s fetal measurements were 3 week ahead of normal fetal measurements in the antenatal period, and the height, weight and head circumference percentiles were greater than the 97th percentiles. The patient underwent surgery for a congenital cardiac disease (ASD and PDA). Hypertelorism, telecanthus,frontal bossing, arched nose and over-sized hands and feet were found by physical examination. Psychometric evaluation during the follow-up showed that the patient’s intelligence was below the normal range for his age group. Genetic analysis was performed due to possibility of Sotos’ syndrome. The patient was diagnosed as Sotos’ Syndrome due to mutations of Nuclear receptor binding SET-Domain 1 (NSD-1). We reported a patient who was diagnosed as Sotos’ syndrome and who is being treated for increased height in this article

Keywords

Child, Sotos syndrome, Tall stature

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