Sotos syndrome

Abstract

Sotos syndrome is a well-defined childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, advanced bone age, and a typical facial gestalt including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. This report presents a case of Sotos syndrome in a 5½-year-old child.

Sotos syndrome - Case report of a rare genetic disorder

“…Most of the cases of this syndrome have been sporadic. Although the first patient described to be having the features of Sotos syndrome may have been reported in the year 1931, this syndrome was first described by Sotos et al in 1964 [1,2]. It has been reported worldwide across all ethnic groups.…”

“…It has been reported worldwide across all ethnic groups. Cole and Hughes in 1994 established four major diagnostic criteria [1,3] based on systematic assessment of forty one classic cases. The major criteria's included macrocephaly, learning difficulties, characteristic facial appearance and overgrowth with advanced bone age.…”

“…These clinical criteria's became the keystone for the diagnosis of Sotos syndrome up until 2002. Lately mutations and deletions of NSD1 (the nuclear-receptor-binding SET-domaincontaining protein 1) have been recognized in these cases [1,4]. This has lead to the reassessment of the features of this condition.…”

“…Nevertheless, upto thirty five percent of the reported series of Sotos patients have not shown any NSD1 abnormalities. In such cases, the possible participation of the NSD2 and NSD3 genes has already been excluded by sequencing [1,5].…”

Sotos Syndrome: A Case Report

“…Hiperpireksi, otonomik disfonksiyon, tirotropin, kortikotopin ve gonadotropinlerin intermittan hiposekresyonu ve paradoksik olarak büyüme hormonu seviyelerindeki artışların hipotalamik disfonksiyonun indirekt göstergeleri olabileceği öne sürülmek-tedir (13)(14). Sotos sendromlu hastaların %60-80'ninde gö-rüntüleme yöntemlerinde ventrikülomegali, korpus kallosumda incelme, ektra serebral sıvı boşluğunda artma gibi santral sinir sistem patolojileri görülebilir (7,15). Yapılan çalışmalarda Sotos Sendromlu olguların %9-50 sinde febril ya da afebril nöbetlerin eşlik ettiği belirtilmiştir (16).…”