» Articles » PMID: 35972040

Congenital Adrenal Calcifications As the First Clinical Indication of Sphingosine Lyase Insufficiency Syndrome: A Case Report and Review of the Literature

Overview
Specialty Genetics
Date 2022 Aug 16
PMID 35972040
Authors
Affiliations
Soon will be listed here.
Abstract

Sphingosine Lyase Insufficiency Syndrome (SPLIS) or SGPL1 Deficiency is a newly described entity that is characterized by steroid-resistant nephrotic syndrome, primary adrenal insufficiency, lymphopenia, ichthyosis, and/or endocrine and neurologic abnormalities. The earliest identification of SGPL1 pathogenic variants in association with this syndrome was reported in 2017. Since then, at least 36 patients have been reported with this pediatric syndrome. Here, we report a new patient with SPLIS who had a prenatal finding of adrenal calcifications, congenital nephrotic syndrome, and abnormal newborn screening concerning for Severe Combined Immunodeficiency. We conclude that SPLIS is a clinically recognizable condition with prenatal onset. This case should increase awareness of SPLIS in the differential diagnosis for adrenal calcifications. We present a case on the severe end of the clinical spectrum of SPLIS, and a review of the literature.

Citing Articles

Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations.

Sedillo J, Badduke C, Schrodi S, Scaria V, Onat O, Alfadhel M Genet Med Open. 2024; 2:100840.

PMID: 39669624 PMC: 11613930. DOI: 10.1016/j.gimo.2023.100840.


Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients.

Keller N, Midgley J, Khalid E, Lesmana H, Mathew G, Mincham C Orphanet J Rare Dis. 2024; 19(1):355.

PMID: 39334450 PMC: 11429486. DOI: 10.1186/s13023-024-03311-w.


Addison's Disease: Diagnosis and Management Strategies.

Carsote M, Nistor C Int J Gen Med. 2023; 16:2187-2210.

PMID: 37287503 PMC: 10243343. DOI: 10.2147/IJGM.S390793.

References
1.
Bektas M, Allende M, Lee B, Chen W, Amar M, Remaley A . Sphingosine 1-phosphate lyase deficiency disrupts lipid homeostasis in liver. J Biol Chem. 2010; 285(14):10880-9. PMC: 2856294. DOI: 10.1074/jbc.M109.081489. View

2.
Bamborschke D, Pergande M, Becker K, Koerber F, Dotsch J, Vierzig A . A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation. Brain Dev. 2018; 40(6):480-483. DOI: 10.1016/j.braindev.2018.02.008. View

3.
Atkinson D, Glumac J, Asselbergh B, Ermanoska B, Blocquel D, Steiner R . Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy. Neurology. 2017; 88(6):533-542. PMC: 5304460. DOI: 10.1212/WNL.0000000000003595. View

4.
Martin K, Weaver N, Alhasan K, Gumus E, Sullivan B, Zenker M . MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome. AJNR Am J Neuroradiol. 2020; 41(10):1943-1948. PMC: 7661081. DOI: 10.3174/ajnr.A6746. View

5.
Indumathi C, Dinakar C, Lewin S, Phadke K . Congenital Nephrotic Syndrome with adrenal calcification and cardiac malformation. Indian J Pediatr. 2006; 72(12):1049-51. DOI: 10.1007/BF02724410. View