First report of tethered cord syndrome in a patient with Sotos syndrome.
BMC Pediatr
; 20(1): 183, 2020 04 24.
Article
em En
| MEDLINE
| ID: mdl-32331522
ABSTRACT
BACKGROUND:
Sotos 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 PRESENTATION We 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.CONCLUSION:
In the literature, sacral lipoma and tethered cord syndrome with Sotos syndrome have not been published yet.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Sotos
/
Defeitos do Tubo Neural
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
Idioma:
En
Revista:
BMC Pediatr
Assunto da revista:
PEDIATRIA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Turquia