Sotos syndrome with congenital UPJO case report

IntroductionSotos syndrome is congenital disorder.The mutation in the NSD1 gene is the main cause of the Sotos syndrome,which lead to growth retardation and abnormal craniofacial morphology.Here we report rare case of2years old Iranian body diagnosed to sotos syndrome with upjo.• Case ReportA23-month-old boy was referred to our paediatrics endocrine and metabolism clinic for delay development and speak disability.He was the second child of unrelated iranian parents who delivered by cesarean section at term with birth weight of3.7kg and birth height of 57 cm’s(> 97th centile ),his sibling was normal.He was tall boy with head circumference of 52cms ,(> 97 th percentile),height of 95cm’s(> 97th centile)and weight of 14kgs(75th centile).On examination he had red cheeck with coarse facial features,prominent forehead,large ears,and large hands and feet also.He was unable to sit lonely till age1and stand till month ago,more over he couldn walk.He was suffering from upjo that detected by renal sonography before and after delivery and it was confirmed by diuretic renal scan.He also had brain MRI that showed extra axial fluid in both cerebral hemispheres and mild dilation in lateral ventricles was seen,in addition thinning in corpus callosum was reported.In the first visit tall stature and frontal bossing,which are some of sotos sings,were taken into consideration.For this reason genetic test requested for him,and MLPA analysis for this sample detects heterozygous deletion in nsd1Gene5Q35 which is related to sotos syndrome. ConclusionSotos syndrome is manifested macrocephaly,learning difficulties,characteristic facial appearance and overgrowth with advanced bone age.In literatures other association such as unilateral glaucoma,optic disc pallor and retinal atrophy ,gastric carcinoma,septo-optic dysplasia,epilepsy and congenital cardiopathy were seen with this syndrome. Although renal anomaly such as ureterovesical reflux were seen with this patient but as we know upjo is not reported with sotos syndrome up to now

کلیدواژه ها:

Sotos syndrome ، Cerebral gigantism ، Tall stature ، UPJO