Advertisement

Neuroradiology

, Volume 60, Issue 9, pp 885–888 | Cite as

Reversible cerebral vasoconstriction complicating cerebral atherosclerotic vascular disease in Schimke immuno-osseous dysplasia

  • Mariasavina Severino
  • Thea Giacomini
  • Enrico Verrina
  • Giulia Prato
  • Andrea Rossi
Letter to the Editor

Dear Editor-in-Chief,

Schimke immuno-osseous dysplasia (SIOD) is an uncommon autosomal-recessive multisystem disease caused by mutations in SMARCAL1, a gene encoding a chromatin-remodeling enzyme that stabilizes stalled replication forks and prevents replication-associated DNA damage (OMIM 242900) [1]. The disease is characterized by spondyloepiphyseal dysplasia, nephropathy, immunodeficiency, and growth failure. Several neurologic manifestations have been described, including microcephaly, intellectual disability, seizures, stroke, transient neurological attack, and migraine-like headache [1].

Cerebrovascular pathology in SIOD may result from several predisposing factors, such as renal disease and immune dysfunction, leading to occlusive disease and early atherosclerosis [2]. Recently, Morimoto et al. demonstrated that vascular complications may also arise from impaired vascular elastogenesis, showing decreased elastin expression in vascular tissues, leading to disorganized internal...

Notes

Compliance with ethical standards

Funding

No funding was received for this study.

Conflict of Interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

For this type of study formal consent is not required.

References

  1. 1.
    Deguchi K, Clewing JM, Elizondo LI, Hirano R, Huang C, Choi K, Sloan EA, Lücke T, Marwedel KM, Powell RD Jr, Santa Cruz K, Willaime-Morawek S, Inoue K, Lou S, Northrop JL, Kanemura Y, van der Kooy D, Okano H, Armstrong DL, Boerkoel CF (2008) Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1. J Neuropathol Exp Neurol 67(6):565–577CrossRefPubMedGoogle Scholar
  2. 2.
    Schmidt B, Christen HJ, Herkenrath P, Benz-Bohm G, Müller-Berghaus J, Querfeld U (1997) Cerebral complications in Schimke immuno-osseous dysplasia. Eur J Pediatr 156(10):789–791CrossRefPubMedGoogle Scholar
  3. 3.
    Morimoto M, Wang KJ, Yu Z, Gormley AK, Parham D, Bogdanovic R, Lücke T, Mayfield C, Weksberg R, Hendson G, Boerkoel CF (2015) Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia. Pediatr Res 78(6):609–617CrossRefPubMedGoogle Scholar
  4. 4.
    Coffino SW, Fryer RH (2017) Reversible cerebral vasoconstriction syndrome in pediatrics: a case series and review. J Child Neurol 32(7):614–623CrossRefPubMedGoogle Scholar
  5. 5.
    Miller TR, Shivashankar R, Mossa-Basha M, Gandhi D (2015) Reversible cerebral vasoconstriction syndrome, part 2: diagnostic work-up, imaging evaluation, and differential diagnosis. AJNR Am J Neuroradiol 36(9):1580–1588CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Neuroradiology UnitIstituto Giannina GasliniGenoaItaly
  2. 2.Neuropsychiatry UnitIstituto Giannina GasliniGenoaItaly
  3. 3.Nephrology and Dialysis UnitIstituto Giannina GasliniGenoaItaly

Personalised recommendations