Abstract | BACKGROUND: PATIENT DESCRIPTION: This five-year-old girl presented with infantile-onset severe global developmental delay, truncal hypotonia, and generalized dystonia following normal development during her first six months of life. Brain magnetic resonance imaging showed marked hypomyelination and a thin corpus callosum at age 19 months, both unchanged on follow-up at age 28 months. Urine free sialic acid was moderately elevated. Cerebrospinal fluid free sialic acid was marginally elevated. Sequencing of SLC17A5 revealed compound heterozygous likely pathogenic variants, namely, a known missense (c.291G>A) variant and a novel truncating (c.819+1G>A) variant, confirming the diagnosis of Salla disease at age 3.5 years. CONCLUSION: We report a new patient with intermediate severe Salla disease. Normal or marginally elevated urine or cerebrospinal fluid free sialic acid levels cannot exclude Salla disease. In patients with progressive global developmental delay and hypomyelination on brain magnetic resonance imaging, Salla disease should be included into the differential diagnosis.
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Authors | Rebecca Barmherzig, Garrett Bullivant, Dawn Cordeiro, David S Sinasac, Susan Blaser, Saadet Mercimek-Mahmutoglu |
Journal | Pediatric neurology
(Pediatr Neurol)
Vol. 74
Pg. 87-91.e2
(Sep 2017)
ISSN: 1873-5150 [Electronic] United States |
PMID | 28662915
(Publication Type: Case Reports, Journal Article, Review)
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Copyright | Copyright © 2017 Elsevier Inc. All rights reserved. |
Chemical References |
- Organic Anion Transporters
- Symporters
- sialic acid transport proteins
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Topics |
- Child, Preschool
- Corpus Callosum
(diagnostic imaging)
- Databases, Bibliographic
(statistics & numerical data)
- Female
- Humans
- Magnetic Resonance Imaging
- Mutation
(genetics)
- Olivopontocerebellar Atrophies
(complications, diagnostic imaging)
- Organic Anion Transporters
(genetics)
- Sialic Acid Storage Disease
(complications, diagnosis, genetics)
- Symporters
(genetics)
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