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Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency

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Abstract

We present a neonate with molybdenum cofactor deficiency imaged at presentation during the first month of life and at 5 months with diffusion-weighted brain MRI. While the imaging features of this disease have previously been reported, this case highlights a distinctive initial pattern of widespread restricted diffusion involving cortex at the depths of sulci. Other case series have published diffusion-weighted images (DWI) with this pattern but never specifically commented on this finding. This distinct DWI pattern also accounts for the configuration of ulegyria frequently described on later imaging. Early recognition of this unique initial DWI pattern could avoid misdiagnosis and better direct counseling and management.

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References

  1. Topcu M, Coskun T, Haliloglu G et al (2001) Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopathy. J Child Neurol 16:264–270

    PubMed  CAS  Google Scholar 

  2. Eichler F, Tan WH, Shih VE et al (2006) Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency. J Child Neurol 21:801–805

    Article  PubMed  Google Scholar 

  3. Rodrigues K, Grant PE (2011) Diffusion-weighted imaging in neonates. Neuroimaging Clin N Am 21:127–151

    Article  PubMed  Google Scholar 

  4. Johnson JL, Wanders RJ (2001) Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. In: Scriver CR, Beaudet AL, Sly WS et al (eds) The metabolic & molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3163–3177

    Google Scholar 

  5. Schwarz G, Mendel RR, Ribbe MW (2009) Molybdenum cofactors, enzymes and pathways. Nature 460:839–847

    Article  PubMed  CAS  Google Scholar 

  6. Reiss J, Bonin M, Schwegler H et al (2005) The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis. Mol Genet Metab 85:12–20

    Article  PubMed  CAS  Google Scholar 

  7. Veldman A, Santamaria-Araujo JA, Sollazzo S et al (2010) Successful treatment of molybdenum cofactor deficiency type A with cPMP. Pediatrics 125:e1249–e1254

    Article  PubMed  Google Scholar 

  8. Schwartz ES, Barkovich AJ (2011) Brain and spine injuries in infancy and childhood. In: Barkovich AJ, Raybaud C (eds) Pediatric neuroimaging, 5th edn. Lippencott, Williams and Williams, Philadelphia, pp 288–289

    Google Scholar 

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Authors and Affiliations

  1. Department of Radiology, Children’s Hospital Colorado, University of Colorado Denver, 13123 East 16th Ave., B125, Aurora, CO, 80045, USA

    Nicholas V. Stence & Laura Z. Fenton

  2. Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Denver, Aurora, CO, USA

    Curtis R. Coughlin II & Janet A. Thomas

Authors
  1. Nicholas V. Stence
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  2. Curtis R. Coughlin II
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  3. Laura Z. Fenton
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  4. Janet A. Thomas
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Correspondence to Nicholas V. Stence.

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Stence, N.V., Coughlin, C.R., Fenton, L.Z. et al. Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency. Pediatr Radiol 43, 882–885 (2013). https://doi.org/10.1007/s00247-012-2579-8

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  • DOI: https://doi.org/10.1007/s00247-012-2579-8

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