Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report
Background. Sphingosine phosphate lyase insufficiency syndrome (SPLIS) caused by inactivating mutations in the human SGPL1 gene results in congenital nephrotic syndrome, adrenal insufficiency, ichthyosis, immunodeficiency, and a wide range of pathological neurological features. We present a n...
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Hacettepe University Institute of Child Health
2023-12-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/114 |
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| author | Gönül Büyükyılmaz Keziban Toksoy Adıgüzel Özlem Yüksel Aksoy Çiğdem Seher Kasapkara Gizem Ürel Demir Engin Demir Şule Berk Ergun Fatih Gürbüz Mehmet Boyraz |
| author_facet | Gönül Büyükyılmaz Keziban Toksoy Adıgüzel Özlem Yüksel Aksoy Çiğdem Seher Kasapkara Gizem Ürel Demir Engin Demir Şule Berk Ergun Fatih Gürbüz Mehmet Boyraz |
| author_sort | Gönül Büyükyılmaz |
| collection | DOAJ |
| description |
Background. Sphingosine phosphate lyase insufficiency syndrome (SPLIS) caused by inactivating mutations in the human SGPL1 gene results in congenital nephrotic syndrome, adrenal insufficiency, ichthyosis, immunodeficiency, and a wide range of pathological neurological features. We present a novel mutation in the SGPL1 gene causing hypocalcemia, primary adrenal insufficiency (PAI), nephrotic syndrome, subclinical hypothyroidism, lymphopenia, ptosis, and pathologic neuroimaging findings.
Case. A Turkish male infant presented with bruising at 2 months of age and was diagnosed with hypocalcemia, PAI, and subclinical hypothyroidism. At the age of 15 months, he was admitted to the hospital with ptosis. Other systemic manifestations included persistent lymphopenia and nephrotic syndrome. Magnetic resonance imaging (MRI) of the brain and orbit demonstrated asymmetric contrast enhancement in the left cavernosal sinus, orbital apex, and thinning at the bilateral optic nerve. Whole exome sequencing (WES) revealed a homozygous c.1432C > G (p.Gln478Glu) variant in the SGPL1 gene (NM_003901.4), which has not previously been reported in the literature.
Conclusions. Novel mutations in SGPL1 are still being identified. This case reminded us that SPLIS should not be considered for patients with nephrotic syndrome alone. Still, PAI may also include patients with neurological disorders, hypocalcemia, and pathological neuroimaging findings such as thinning at the bilateral optic nerve.
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| format | Article |
| id | doaj-art-c665b680151e4d1c8cfdac123b35eb93 |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2023-12-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-c665b680151e4d1c8cfdac123b35eb932025-08-20T02:00:50ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212023-12-0165610.24953/turkjped.2022.187Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case reportGönül Büyükyılmaz0Keziban Toksoy Adıgüzel1Özlem Yüksel Aksoy2Çiğdem Seher Kasapkara3Gizem Ürel Demir4Engin Demir5Şule Berk Ergun6Fatih Gürbüz7Mehmet Boyraz8Department of Pediatric Endocrinology, Ankara Bilkent City Hospital, Ankara.Department of Pediatric Endocrinology, Ankara Bilkent City Hospital, Ankara.Department of Pediatric Nefrology, Ankara Bilkent City Hospital, Ankara.Department of Pediatric Metabolism and Nutrition, Ankara Bilkent City Hospital, Ankara.Department of Pediatric Genetics, Mersin City Hospital, Mersin.Department of Pediatric Gastroenterology, Mersin City Hospital, Mersin.Department of Ophthalmology, Ankara Bilkent City Hospital, Ankara, Türkiye.Department of Pediatric Endocrinology, Ankara Bilkent City Hospital, Ankara.Department of Pediatric Endocrinology, Ankara Bilkent City Hospital, Ankara. Background. Sphingosine phosphate lyase insufficiency syndrome (SPLIS) caused by inactivating mutations in the human SGPL1 gene results in congenital nephrotic syndrome, adrenal insufficiency, ichthyosis, immunodeficiency, and a wide range of pathological neurological features. We present a novel mutation in the SGPL1 gene causing hypocalcemia, primary adrenal insufficiency (PAI), nephrotic syndrome, subclinical hypothyroidism, lymphopenia, ptosis, and pathologic neuroimaging findings. Case. A Turkish male infant presented with bruising at 2 months of age and was diagnosed with hypocalcemia, PAI, and subclinical hypothyroidism. At the age of 15 months, he was admitted to the hospital with ptosis. Other systemic manifestations included persistent lymphopenia and nephrotic syndrome. Magnetic resonance imaging (MRI) of the brain and orbit demonstrated asymmetric contrast enhancement in the left cavernosal sinus, orbital apex, and thinning at the bilateral optic nerve. Whole exome sequencing (WES) revealed a homozygous c.1432C > G (p.Gln478Glu) variant in the SGPL1 gene (NM_003901.4), which has not previously been reported in the literature. Conclusions. Novel mutations in SGPL1 are still being identified. This case reminded us that SPLIS should not be considered for patients with nephrotic syndrome alone. Still, PAI may also include patients with neurological disorders, hypocalcemia, and pathological neuroimaging findings such as thinning at the bilateral optic nerve. https://turkjpediatr.org/article/view/114Nephrotic syndromePtosisSphingosine phosphate lyase insufficiency syndromeadrenal insufficiencysphingolipids |
| spellingShingle | Gönül Büyükyılmaz Keziban Toksoy Adıgüzel Özlem Yüksel Aksoy Çiğdem Seher Kasapkara Gizem Ürel Demir Engin Demir Şule Berk Ergun Fatih Gürbüz Mehmet Boyraz Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report The Turkish Journal of Pediatrics Nephrotic syndrome Ptosis Sphingosine phosphate lyase insufficiency syndrome adrenal insufficiency sphingolipids |
| title | Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report |
| title_full | Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report |
| title_fullStr | Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report |
| title_full_unstemmed | Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report |
| title_short | Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report |
| title_sort | novel sphingosine 1 phosphate lyase mutation causes multisystemic diseases case report |
| topic | Nephrotic syndrome Ptosis Sphingosine phosphate lyase insufficiency syndrome adrenal insufficiency sphingolipids |
| url | https://turkjpediatr.org/article/view/114 |
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