Clinical presentation and management challenges of sphingosine-1-phosphate lyase insufficiency syndrome associated with an SGPL1 variant: a case report

Abstract Background This case report describes a unique presentation of sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) caused by a rare SGPL1 variant, highlighting the diagnostic and management challenges associated with this condition. Case presentation A 2-year-old Iranian female pre...

Descripció completa

Dades bibliogràfiques

Autors principals:	Vahid Saeedi, Nahid Rahimzadeh, Fahimeh Ehsanipour, Neda Shalbaf, Amirhosein Farahi, Khalil Rashidi, Leila Kamalzadeh
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2025-01-01
Col·lecció:	BMC Pediatrics
Matèries:	Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) Sphingosine-1-phosphate lyase 1 (SGPL1) Sphingolipids Nephrotic syndrome Adrenal insufficiency Case report
Accés en línia:	https://doi.org/10.1186/s12887-024-05311-y
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!