MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome PEDIATRICS

In this study, MR images from 4 new patients and additional published case reports were reviewed by a pediatric neuroradiologist. Analysis reveals recurring patterns of features in affected patients, including isolated callosal dysgenesis and prominent involvement of the globus pallidus, thalamus, and dentate nucleus, with progressive atrophy and worsening of brain lesions. MR imaging findings of abnormal deep gray nuclei, microcephaly, or callosal dysgenesis in an infant or young child exhibiting other typical clinical features of sphingosine-1-phosphate lyase insufficiency syndrome should trigger prompt genetic testing for SGPL1 mutations.
Source: American Journal of Neuroradiology - Category: Radiology Authors: Tags: PEDIATRICS Source Type: research

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We report the rare case of a patient co-existing NS and DLBCL. DLBCL might be pathogenesis of NS; the findings are supported by the presence of MN, an underlying malignancy (DLBCL), and the lack of anti-PLA2R antibodies. Although further investigation is warranted, our case suggests that DLBCL is a possible cause of secondary MN. PMID: 33028760 [PubMed - in process]
Source: The Tohoku Journal of Experimental Medicine - Category: Research Authors: Tags: Tohoku J Exp Med Source Type: research
Membranous lupus nephritis is a frequent cause of nephrotic syndrome in patients with systemic lupus erythematosus. It has been shown in phospholipase A2 receptor positive membranous; nephropathy that known antibodies can be detected within sera, determination of the target; autoantigen can have diagnostic significance, inform prognosis, and enable non-invasive; monitoring of disease activity. Here we utilized mass spectrometry for antigen discovery in laser; captured microdissected glomeruli from formalin-fixed paraffin embedded tissue and tissue; protein G immunoprecipitation studies to interrogate immune complexes from ...
Source: Kidney International - Category: Urology & Nephrology Authors: Tags: clinical investigation Source Type: research
Conclusions: The short-term steroid regimen may represent an effective treatment option that ensures lower steroid exposure when treating adult steroid-sensitive MCD patients.Am J Nephrol 2019;49:54 –63
Source: American Journal of Nephrology - Category: Neurology Source Type: research
Abstract BACKGROUND: In pediatric patients with steroid-sensitive nephrotic syndrome, recent trials have revealed that a 2-month, short-term steroid regimen is not inferior to an extended steroid course. However, the optimal duration of initial steroid therapy for adult steroid-sensitive minimal change disease (MCD) remains unclear. OBJECTIVES: The aim of present study was to evaluate the effectiveness of a 2-month, short-term steroid regimen in the treatment of adult steroid-sensitive MCD patients. METHOD: This was a prospective observational study. Adult patients with steroid-sensitive MCD (n = 35) who...
Source: American Journal of Nephrology - Category: Urology & Nephrology Authors: Tags: Am J Nephrol Source Type: research
Conclusions: New genetic causes of PAI continue to be identified. We suggest that screening for SGPL1 mutations should not be reserved only for patients with nephrotic syndrome but may also include patients with PAI that lack other clinical manifestations of NPHS14 since, in certain cases, kidney disease and accompanying features might develop later on. Timely diagnosis of this specific sphingolipidosis, while the kidneys still function normally, can lead to prompt initiation of therapy and improve outcome especially, if a targeted NPHS14-treatment is available in the future. PMID: 30517686 [PubMed - as supplied by publisher]
Source: The Journal of Clinical Endocrinology and Metabolism - Category: Endocrinology Authors: Tags: J Clin Endocrinol Metab Source Type: research
Publication date: Available online 25 September 2018Source: Advances in Biological RegulationAuthor(s): Youn-Jeong Choi, Julie D. SabaAbstractSphingosine-1-phosphate lyase (SPL) is an intracellular enzyme that controls the final step in the sphingolipid degradative pathway, the only biochemical pathway for removal of sphingolipids. Specifically, SPL catalyzes the cleavage of sphingosine 1-phosphate (S1P) at the C2-3 carbon bond, resulting in its irreversible degradation to phosphoethanolamine (PE) and hexadecenal. The substrate of the reaction, S1P, is a bioactive sphingolipid metabolite that signals through a family of fi...
Source: Advances in Biological Regulation - Category: Biology Source Type: research
Discussion Normal kidneys regulate water balance to maintain a plasma osmolality of 275-290 mOsm/kg normally. Thirst and arginine vasopressin or antidiuretic hormone (ADH) are the primary regulators of plasma osmolality. ADH is made in the hypothalamus and released by the posterior pituitary gland. ADH acts on the kidney’s distal collecting duct to increase water reabsorption. ADH is appropriately released in hypovolemic states, such as dehydration caused by gastroenteritis. ADH has an ~10 minute half-life and therefore can respond to rapid changes in volume status. Sodium balance is regulated by aldosterone (as part...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Recently recessive mutations in sphingosine-1-phosphate lyase (SGPL1) have been published as a cause of syndromic congenital nephrotic syndrome with adrenal insufficiency. We have identified a case with fetal hydrops and brain malformations due to a mutation in SGPL1.
Source: Brain and Development - Category: Neurology Authors: Tags: Case Report Source Type: research
Nature Reviews Nephrology 13, 191 (2017). doi:10.1038/nrneph.2017.19 Author: Ellen F. Carney Two new studies published simultaneously by different research groups report that recessive mutations in SGPL1, which encodes sphingosine-1-phosphate (S1P) lyase, cause a syndromic form of steroid- resistant nephrotic syndrome (SRNS) with adrenal insufficiency. SGPL1 degrades the intracellular signalling molecule S1P, which has roles in
Source: Nature Reviews Nephrology - Category: Urology & Nephrology Authors: Tags: Research Highlight Source Type: research
Abstract Hyponatremia could be defined as a public health topic: too many patients are concerned in both hospitalized and general populations; hyponatremia induces lots of clinical outcomes and a great economic burden. Its pathophysiology involves thirst regulation (hypotonic water intakes) and losses regulation (through the kidney under vasopressin control). Diagnostic approach should insure that hyponatremia reflects hypo-osmolality and hypotonicity: first, a false hyponatremia should be ruled out, then a non-hypotonic one. Next step is clinic: extracellular status should be evaluated. When increased, any edemat...
Source: Nephrologie and Therapeutique - Category: Urology & Nephrology Authors: Tags: Nephrol Ther Source Type: research
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