A case of Sjögren-Larsson syndrome with minimal MR imaging findings facilitated by proton spectroscopy

Tachibana, Yasuhiko; Aida, Noriko; Enomoto, Keisuke; Iai, Mizue; Kurosawa, Kenji

doi:10.1007/s00247-011-2156-6

Cited by 10 publications

(8 citation statements)

References 6 publications

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“…More importantly, however, SLS is characterized by prominent resonance peaks at 1.3 and 0.9 ppm in 1 H-MRS, which correspond to the resonance of lipids. This finding has been observed in all SLS cases published to date [Lagrue et al, 2012;Tachibana et al, 2012]. Complementary studies based on DTI analyses also suggest that hypomyelination occurs as well [Sijens et al, 2009] as manifested by low FA.…”

Section: Imaging In Sjogren-larsen Syndromesupporting

confidence: 63%

Neuroimaging of lipid storage disorders

Rieger

Auerbach

Robinson

et al. 2013

Dev Disabil Res Revs

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Lipid storage diseases, also known as the lipidoses, are a group of inherited metabolic disorders in which there is lipid accumulation in various cell types, including the central nervous system, because of the deficiency of a variety of enzymes. Over time, excessive storage can cause permanent cellular and tissue damage. The brain is particularly sensitive to lipid storage as the contents of the central nervous system must occupy uniform volume, and any increases in fluids or deposits will lead to pressure changes and interference with normal neurological function. In addition to primary lipid storage diseases, lysosomal storage diseases include the mucolipidoses (in which excessive amounts of lipids and carbohydrates are stored in the cells and tissues) and the mucopolysaccharidoses (in which abnormal glycosylated proteins cannot be broken down because of enzyme deficiency). Neurological dysfunction can be a manifestation of these conditions due to substrate deposition as well. This review will explore the modalities of neuroimaging that may have particular relevance to the study of the lipid storage disorder and their impact on elucidating aspects of brain function. First, the techniques will be reviewed. Next, the neuropathology of a few selected lipid storage disorders will be reviewed and the use of neuroimaging to define disease characteristics discussed in further detail. Examples of studies using these techniques will be discussed in the text.

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Section: Imaging In Sjogren-larsen Syndromesupporting

confidence: 63%

Neuroimaging of lipid storage disorders

Rieger

Auerbach

Robinson

et al. 2013

Dev Disabil Res Revs

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“…Finally, eight publications were excluded because of probable patient double counts or other specific reasons (prenatally diagnosed patients, etc.). In total, 50 publications contained relevant genetic data and qualified for inclusion in this study (Alió, Bird, McClellan, & Cunningham, ; Aoki, Suzuki, Ito, & Ito, ; Auada et al., ; Botelho Gomes et al., ; Burgueño‐Montañés, Garcia‐Fernández, Colunga‐Cueva, & Garcia‐López, ; Carney et al., ; Cubo & Goetz, ; Davis et al., ; De Laurenzi et al., ; Didona et al., ; Engelstad et al., ; Gaboon, Jelani, Almramhi, Mohamoud, & Al‐Aama, ; Gånemo et al., ; Garcia‐Peris, Latour‐Álvarez, Pestana‐Eliche, & Sánchez, ; Hidalgo et al., ; Incecık, Herguner, Rizzo, & Altunbasak, , ; Jain et al., ; Jean‐François, Low, Gonzales, & Sarraf, ; Kariminejad et al., ; Kim et al., ; Kraus et al., ; Lossos et al., ; Möhrenschlager, Braun‐Falco, & Ring, ; Nagappa et al., ; Nakajima et al, ; Nakano et al., ; Paiva et al., ; Papathemeli et al., ; Rafai et al., ; Rizzo et al., , ; Sakai et al., , ; Sanabria & Coco, ; Sarret et al., ; Shah et al., ; Shamriz, Molho‐Pessach, Shaag, Daum, & Stepensky, ; Shibaki, Akiyama, & Shimizu, ; Sijens et al., ; Sillén et al., ; Tachibana, Aida, Enomoto, Iai, & Kurosawa, ; Taghdiri, Kashef, Fardaei, & Miryounesi, ; Takeichi et al., ; Tanteles et al., ; Tavasoli et al., ; Tsukamoto, Chang, & Yoshida, ; Vural et al., ; Willemsen et al., ; Yiş and Terrinoni, ). One further yet unpublished case has been included into the database. Data extraction : Most of the selected publications contained both, genetic and phenotypic/other information, which was categorized into three groups: …”

Section: Methodsmentioning

confidence: 99%

Genotype and phenotype variability in Sjögren-Larsson syndrome

et al. 2018

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The Sjögren–Larsson syndrome (SLS) is a rare autosomal recessive disorder caused by pathogenic variants in the ALDH3A2 gene, which codes for fatty aldehyde dehydrogenase (FALDH). FALDH prevents the accumulation of toxic fatty aldehydes by converting them into fatty acids. Pathogenic ALDH3A2 variants cause symptoms such as ichthyosis, spasticity, intellectual disability, and a wide range of less common clinical features. Interpreting patient‐to‐patient variability is often complicated by inconsistent reporting and negatively impacts on establishing robust criteria to measure the success of SLS treatments. Thus, with this study, patient‐centered literature data was merged into a concise genotype‐based, open‐access database ( www.LOVD.nl/ALDH3A2 ). One hundred and seventy eight individuals with 90 unique SLS‐causing variants were included with phenotypic data being available for more than 90%. While the three lead symptoms did occur in almost all cases, more heterogeneity was observed for other frequent clinical manifestations of SLS. However, a stringent genotype–phenotype correlation analysis was hampered by the considerable variability in reporting phenotypic features. Consequently, we compiled a set of recommendations of how to generate comprehensive SLS patient descriptions in the future. This will be of benefit on multiple levels, for example, in clinical diagnosis, basic research, and the development of novel treatment options for SLS.

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“…Several disorders, such as Sjögren–Larsson syndrome, have prominent lipid peaks at both 0.9 p.p.m. and 1.3 p.p.m . Hyperlactatemia, which often occurs in metabolic crisis of MSUD, can also be confused with the peak at 1.3 p.p.m.…”

Section: Discussionmentioning

confidence: 99%

“…and 1.3 p.p.m. 8 Hyperlactatemia, which often occurs in metabolic crisis of MSUD, can also be confused with the peak at 1.3 p.p.m. Fortunately, it is not difficult to exclude other diseases based on medical history, physical examinations and routine laboratory examinations.…”

Section: Discussionmentioning

confidence: 99%

Neonatal case of classic maple syrup urine disease: Usefulness of ¹H‐MRS in early diagnosis

Satô

Muroya

Hanakawa

et al. 2014

Pediatrics International

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We describe a male neonate with classic maple syrup urine disease (MSUD) in metabolic crisis. On day 7 of life, he was referred to hospital because of coma and metabolic acidosis with maple syrup odor. On day 4 after admission, brain magnetic resonance imaging findings were consistent with encephalopathy due to MSUD. Proton magnetic resonance spectroscopy ((1) H-MRS) showed a large methyl resonance peak at 0.9 p.p.m. The diagnosis of MSUD was confirmed on low branched-chain α-keto acid dehydrogenase complex activity in lymphocyte. (1) H-MR spectra were obtained in 10 min, while it took at least several days to obtain the results of other diagnostic examinations. In convalescence, the peak at 0.9 p.p.m. decreased. The large methyl resonance peak at 0.9 p.p.m. in brain (1) H-MRS would be one of the earliest clues to the diagnosis of classic MSUD in the neonatal period, especially in metabolic crisis.

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A case of Sjögren-Larsson syndrome with minimal MR imaging findings facilitated by proton spectroscopy

Cited by 10 publications

References 6 publications

Neuroimaging of lipid storage disorders

Neuroimaging of lipid storage disorders

Genotype and phenotype variability in Sjögren-Larsson syndrome

Neonatal case of classic maple syrup urine disease: Usefulness of ¹H‐MRS in early diagnosis

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A case of Sjögren-Larsson syndrome with minimal MR imaging findings facilitated by proton spectroscopy

Cited by 10 publications

References 6 publications

Neuroimaging of lipid storage disorders

Neuroimaging of lipid storage disorders

Genotype and phenotype variability in Sjögren-Larsson syndrome

Neonatal case of classic maple syrup urine disease: Usefulness of 1H‐MRS in early diagnosis

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Neonatal case of classic maple syrup urine disease: Usefulness of ¹H‐MRS in early diagnosis