Sotos Sendromlu Bir Olgu Sunumu

Yıl 2014, Cilt: 8 Sayı: 2, 94 - 97, 01.08.2014

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

Öz

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.

Anahtar Kelimeler

Çocuk, Sotos sendromu, Uzun boy

Sotos Syndrome: A Case Report

Öz

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

Anahtar Kelimeler

Child, Sotos syndrome, Tall stature

Kaynakça

• Root AW, Diamond FB Jr. In: Pediatric Endocrinology, Lifshitz F (ed), Overgrowth Syndromes. New York: Informa Healthcare Inc, 2007:177-88.
• Simm PJ, Werther GA. Child and adolescent growth disorders-an overview. Aust Fam Physician 2005;4:731-7.
• (2000) Expected values 6 SI unit conversion tables, 5th edn. Esoterix Endocrinology.
• Peker E, Kırımi E, Tuncer O, Akbayram S. Beckwith-Wiedemann Syndrome and prolonged hypoglycemia. Selçuk Tıp Derg 2010;26:26-8
• Ozkınay F, Cogulu O, Bayram N. Proteus sendromu olgu sunumu. Ege Tıp Dergisi 200;39:213-5.
• Klinefelter HF, Reifenstein EC, Albright F. Syndrome characterized by gynecomastia aspermatogenes without A-Leydigism and increased excretion of follicle stimulating hormone. J Clin Endocrinol Metab 1942;2:615-27.
• Juneja A, Sultan A. Sotos syndrome. J Indian Soc Pedod Prev Dent 2011,6:48-51.
• Takano M, Kasahara K, Ogawa C, Katada H, Sueishi K. A case of Sotos syndrome treated with distraction osteogenesis in maxilla and mandible. Bull Tokyo Dent Coll 2012;53:75-82.
• Leventopoulos G, Kitsiou-Tzeli S, Kritikos K, A clinical study of Sotos syndrome patients with review of the literature. Pediatr Neurol 2009;40:357-64.
• Cole TRP, Hughes HE. Sotos syndrome: A study of the diagnostic criteria and natural history. J Med Genet 1994;31:20-32.
• Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M et al. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in overgrowth phenotypes. Am J Hum Genet 2003;72:132-43.
• Büyükgebiz A, Kinik E. Sotos syndrome presenting with epilepsy. Turkish J Ped 1990; 32:59-63
• Whitaker MD, Scheithauer BW, Hayles AB, Okazaki H. The hypot- halamus and pituitary in cerebral gigantism. A clinicopathologic and immunocytochemical study. Am J Dis Child 1985;139:679-82.
• Hook EB, Reynolds JW. Cerebral gigantism: Endocrinological and clinical observations of six patients including a congenital giant, concordant monozygotic twins and a child who achieved adult gigantic size. J Pediatr 1967;70:900-14.
• Schaefer GB, Bodensteiner JB, Buehler BA, Lin A, Cole TR. The neuroimaging findings in Sotos syndrome. Am J Med Genet 1997;68:462-5.
• Nicita F, Ruggieri M, Polizzi A. Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long-term follow-up. Epilepsia 2012:102-5.