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Review
. 2022 Nov;188(11):3312-3317.
doi: 10.1002/ajmg.a.62956. Epub 2022 Aug 16.

Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature

Hayley A Ron  1 , Rebecca Scobell  2   3 , Amy Strong  2 , Elizabeth G Salazar  4 , Rebecca Ganetzky  1   3
Affiliations
Review

Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature

Hayley A Ron et al. Am J Med Genet A. 2022 Nov.

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.

Keywords: SGPL1; adrenal calcifications; congenital nephrotic syndrome; lysosomal acid lipase deficiency; sphingosine lyase insufficiency syndrome.

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Conflict of interest statement

CONFLICT OF INTEREST

The author declares that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.

Figures

FIGURE 1
FIGURE 1
Imaging obtained on day of life 3. (a) Radiograph showing calcified adrenal glands bilaterally. (b) Ultrasound of the right kidney; white arrow indicates hyperechogenic calcification within adrenal gland. The renal cortex is diffusely hyperechoic with loss of corticomedullary differentiation. Right kidney size 4.7 × 3.6 × 2.7 cm3. Right adrenal gland size: 1.1 × 1.3 × 1.5 cm3
See this image and copyright information in PMC

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