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Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
J Magn Reson Imaging 2013; 37(4):974-80JM

Abstract

Adenylosuccinate lyase (ADSL) deficiency is a rare inborn error of metabolism resulting in accumulation of metabolites including succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado) in the brain and other tissues. Patients with ADSL have progressive psychomotor retardation, neonatal seizures, global developmental delay, hypotonia, and autistic features, although variable clinical manifestations may make the initial diagnosis challenging. Two cases of the severe form of the disease are reported here: an 18-month-old boy with global developmental delay, intractable neonatal seizures, progressive cerebral atrophy, and marked hypomyelination, and a 3-month-old girl presenting with microcephaly, neonatal seizures, and marked psychomotor retardation. In both patients in vivo proton magnetic resonance spectroscopy (MRS) showed the presence of S-Ado signal at 8.3 ppm, consistent with a prior report. Interestingly, SAICAr signal was also detectable at 7.5 ppm in affected white matter, which has not been reported in vivo before. A novel splice-site mutation, c.IVS12 + 1/G > C, in the ADSL gene was identified in the second patient. Our findings confirm the utility of in vivo proton MRS in suggesting a specific diagnosis of ADSL deficiency, and also demonstrate an additional in vivo resonance (7.5 ppm) of SAICAr in the cases of severe disease.

Authors+Show Affiliations

Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

23055421

Citation

Zulfiqar, Maria, et al. "Novel Proton MR Spectroscopy Findings in Adenylosuccinate Lyase Deficiency." Journal of Magnetic Resonance Imaging : JMRI, vol. 37, no. 4, 2013, pp. 974-80.
Zulfiqar M, Lin DD, Van der Graaf M, et al. Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency. J Magn Reson Imaging. 2013;37(4):974-80.
Zulfiqar, M., Lin, D. D., Van der Graaf, M., Barker, P. B., Fahrner, J. A., Marie, S., ... Maegawa, G. H. (2013). Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency. Journal of Magnetic Resonance Imaging : JMRI, 37(4), pp. 974-80. doi:10.1002/jmri.23852.
Zulfiqar M, et al. Novel Proton MR Spectroscopy Findings in Adenylosuccinate Lyase Deficiency. J Magn Reson Imaging. 2013;37(4):974-80. PubMed PMID: 23055421.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency. AU - Zulfiqar,Maria, AU - Lin,Doris D M, AU - Van der Graaf,Marinette, AU - Barker,Peter B, AU - Fahrner,Jill A, AU - Marie,Sandrine, AU - Morava,Eva, AU - De Boer,Lonneke, AU - Willemsen,Michel A A P, AU - Vining,Eileen, AU - Horská,Alena, AU - Engelke,Udo, AU - Wevers,Ron A, AU - Maegawa,Gustavo H B, Y1 - 2012/10/10/ PY - 2012/01/23/received PY - 2012/09/04/accepted PY - 2012/10/12/entrez PY - 2012/10/12/pubmed PY - 2013/10/18/medline SP - 974 EP - 80 JF - Journal of magnetic resonance imaging : JMRI JO - J Magn Reson Imaging VL - 37 IS - 4 N2 - Adenylosuccinate lyase (ADSL) deficiency is a rare inborn error of metabolism resulting in accumulation of metabolites including succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado) in the brain and other tissues. Patients with ADSL have progressive psychomotor retardation, neonatal seizures, global developmental delay, hypotonia, and autistic features, although variable clinical manifestations may make the initial diagnosis challenging. Two cases of the severe form of the disease are reported here: an 18-month-old boy with global developmental delay, intractable neonatal seizures, progressive cerebral atrophy, and marked hypomyelination, and a 3-month-old girl presenting with microcephaly, neonatal seizures, and marked psychomotor retardation. In both patients in vivo proton magnetic resonance spectroscopy (MRS) showed the presence of S-Ado signal at 8.3 ppm, consistent with a prior report. Interestingly, SAICAr signal was also detectable at 7.5 ppm in affected white matter, which has not been reported in vivo before. A novel splice-site mutation, c.IVS12 + 1/G > C, in the ADSL gene was identified in the second patient. Our findings confirm the utility of in vivo proton MRS in suggesting a specific diagnosis of ADSL deficiency, and also demonstrate an additional in vivo resonance (7.5 ppm) of SAICAr in the cases of severe disease. SN - 1522-2586 UR - https://www.unboundmedicine.com/medline/citation/23055421/Novel_proton_MR_spectroscopy_findings_in_adenylosuccinate_lyase_deficiency_ L2 - https://doi.org/10.1002/jmri.23852 DB - PRIME DP - Unbound Medicine ER -