Abstract
BackgroundSotos syndrome is caused by a gene deletion with an autosomal dominant pattern of inheritance. The Sotos syndrome was first described by Juan Sotos. Cole and Hughes identified the clinical characteristics of this syndrome. This syndrome is characterized by macrocephaly, frontal bossing, ocular hypertelorism, overgrowth, subdural hygroma, ventricular dilatation, agenesis of the corpus callosum. This syndrome is associated with mutations in NSD 1 (nuclear receptor SET domain-containing protein 1) gene, protein insufficiency, and a 5q35 microdeletion. Sotos syndrome is reported to occur in approximately 1/10,000–15,000 births.Case presentationWe present a patient with Sotos syndrome who is harboring a sacral lipoma and tethered cord syndrome and she had growth retardation, frontal bossing and hypertelorism. After a standard approach for tethered cord syndrome, the patient was discharged 3 days after without any additional neurodeficits.ConclusionIn the literature, sacral lipoma and tethered cord syndrome with Sotos syndrome have not been published yet.
Highlights
Sotos syndrome is caused by a gene deletion with an autosomal dominant pattern of inheritance
The Sotos syndrome was first described by Juan Sotos in 1964 [1]
Sotos syndrome is associated with mutations in NSD 1 gene, protein insufficiency and a 5q35 microdeletion [5]
Summary
Sotos syndrome is caused by a gene deletion with an autosomal dominant pattern of inheritance. Sotos syndrome is associated with mutations in NSD 1 (nuclear receptor SET domain-containing protein 1) gene, protein insufficiency and a 5q35 microdeletion [5]. The syndrome is associated with various neural developmental anomalies, to date there is no report in the literature relating to Sotos syndrome with tethered cord syndrome. Case presentation A 2-year-old female was diagnosed with Sotos syndrome after genetic analysis demonstrating NSD1 mutation and 5Q35 microdeletion and she was under follow-up since birth.
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