Enlargement of the Optic Chiasm: A Novel Imaging Finding in Glutaric Aciduria Type 1

References

1. 1.↵
   1. Boy N,
   2. Mühlhausen C,
   3. Maier EM, et al

   . Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis 2017;40:75–101 doi:10.1007/s10545-016-9999-9 pmid:27853989

   CrossRefPubMed
2. 2.↵
   1. Boy N,
   2. Mengler K,
   3. Thimm E, et al

   . Newborn screening: a disease-changing intervention for glutaric aciduria type 1. Ann Neurol 2018;83:970–79 doi:10.1002/ana.25233 pmid:29665094

   CrossRefPubMed
3. 3.↵
   1. Boy N,
   2. Garbade SF,
   3. Heringer J, et al

   . Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1. J Inherit Metab Dis 2019;42:117–27 doi:10.1002/jimd.12033 pmid:30740735

   CrossRefPubMed
4. 4.↵
   1. Boy N,
   2. Heringer J,
   3. Brackmann R, et al

   . Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. Orphanet J Rare Dis 2017;12:77 doi:10.1186/s13023-017-0612-6 pmid:28438223

   CrossRefPubMed
5. 5.↵
   1. Harting I,
   2. Neumaier-Probst E,
   3. Seitz A, et al

   . Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain 2009;132:1764–82 doi:10.1093/brain/awp112 pmid:19433437

   CrossRefPubMedWeb of Science
6. 6.↵
   1. Kafil-Hussain NA,
   2. Monavari A,
   3. Bowell R, et al

   . Ocular findings in glutaric aciduria type 1. J Pediatr Ophthalmol Strabismus 2000;37:289–93 pmid:11020111

   PubMed
7. 7.↵
   1. Tsai FC,
   2. Lee HJ,
   3. Wang AG, et al

   . Experiences during newborn screening for glutaric aciduria type 1: diagnosis, treatment, genotype, phenotype, and outcomes. J Chin Med Assoc 2017;80:253–61 doi:10.1016/j.jcma.2016.07.006 pmid:28302372

   CrossRefPubMed
8. 8.↵
   1. Kölker S,
   2. Valayannopoulos V,
   3. Burlina AB, et al

   . The phenotypic spectrum of organic acidurias and urea cycle disorders, Part 2: the evolving clinical phenotype. J Inherit Metab Dis 2015;38:1059–74 doi:10.1007/s10545-015-9840-x pmid:25875216

   CrossRefPubMed
9. 9.↵
   1. Martinez Alvarez L,
   2. Jameson E,
   3. Parry NR, et al

   . Optic neuropathy in methylmalonic acidemia and propionic acidemia. Br J Ophthalmol 2016;100:98–104 doi:10.1136/bjophthalmol-2015-306798 pmid:26209586

   Abstract/FREE Full Text
10. 10.↵
    1. Soffer D,
    2. Amir N,
    3. Elpeleg ON, et al

    . Striatal degeneration and spongy myelinopathy in glutaric acidemia. J Neurol Sci 1992;107:199–204 doi:10.1016/0022-510X(92)90289-W pmid:1564518

    CrossRefPubMedWeb of Science
11. 11.↵
    1. Jin S,
    2. Diano S

    . Mitochondrial dynamics and hypothalamic regulation of metabolism. Endocrinology 2018;159:3596–3604 doi:10.1210/en.2018-00667 pmid:30203064

    CrossRefPubMed
12. 12.↵
    1. Jones BV,
    2. Barron TF,
    3. Towfighi J

    . Optic nerve enlargement in Krabbe’s disease. AJNR Am J Neuroradiol 1999;20:1228–31 pmid:10472976

    Abstract/FREE Full Text
13. 13.↵
    1. Roi D,
    2. Mankad K,
    3. Kaliakatsos M, et al

    . Thickening of the optic nerves in metachromatic leucodystrophy: a new MRI finding. Neuroradiol J 2016;29:134–36 doi:10.1177/1971400916633479 pmid:26915897

    CrossRefPubMed
14. 14.↵
    1. Mignot C,
    2. Desguerre I,
    3. Burglen L, et al

    . Tumor-like enlargement of the optic chiasm in an infant with Alexander disease. Brain Dev 2009;31:244–47 doi:10.1016/j.braindev.2008.05.005 pmid:18584981

    CrossRefPubMedWeb of Science
15. 15.↵
    1. Klker S,
    2. Hoffmann GF,
    3. Schor DS, et al

    . Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen. Neuropediatrics 2003;34:253–60 pmid:14598231

    CrossRefPubMedWeb of Science
16. 16.↵
    1. Strauss KA,
    2. Morton DH

    . Type I glutaric aciduria, part 2: a model of acute striatal necrosis. Am J Med Genet C Semin Med Genet 2003;121C:53–70.doi:10.1002/ajmg.c.20008 pmid:12888986

    CrossRefPubMed
17. 17.↵
    1. Twomey EL,
    2. Naughten ER,
    3. Donoghue VB, et al

    . Neuroimaging findings in glutaric aciduria type 1. Pediatr Radiol 2003;33:823–30 doi:10.1007/s00247-003-0956-z pmid:14534757

    CrossRefPubMedWeb of Science