Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis.
Childs Nerv Syst
; 40(8): 2609-2614, 2024 Aug.
Article
em En
| MEDLINE
| ID: mdl-38647663
ABSTRACT
Marshall-Smith Syndrome (MSS) is a rare progressive developmental disorder that severely impairs a patient's intellectual development and physical health. The only known cause for MSS is a mutation in the nuclear factor 1 X (NFIX) gene. This mutation affects neuronal development and protein transcription. Historically, most patients with MSS do not survive beyond 3 years of age. Reports of ocular findings are limited. We report a case of a 9-year-old MSS patient with progressive craniosynostosis, elevated intracranial pressure, and catastrophic ocular complications. A comprehensive PubMed literature search from 2018 to August 2022 updating a previous review of older literature produced 72 articles relating to MSS, which are reviewed.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Craniossinostoses
Limite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Childs Nerv Syst
/
Childs nerv. syst
/
Childs nervous system
Assunto da revista:
NEUROLOGIA
/
PEDIATRIA
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Estados Unidos