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

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...

Full description

Saved in:
Bibliographic Details
Main Authors: Vahid Saeedi, Nahid Rahimzadeh, Fahimeh Ehsanipour, Neda Shalbaf, Amirhosein Farahi, Khalil Rashidi, Leila Kamalzadeh
Format: Article
Language:English
Published: BMC 2025-01-01
Series:BMC Pediatrics
Subjects:
Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS)
Sphingosine-1-phosphate lyase 1 (SGPL1)
Sphingolipids
Nephrotic syndrome
Adrenal insufficiency
Case report
Online Access:https://doi.org/10.1186/s12887-024-05311-y
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://doi.org/10.1186/s12887-024-05311-y

Similar Items