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Optic neuropathy in a patient with pyruvate dehydrogenase deficiency

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Abstract

Pyruvate dehydrogenase (PDH) deficiency is a genetic disorder of mitochondrial metabolism. The clinical manifestations range from severe neonatal lactic acidosis to chronic neurodegeneration. Optic neuropathy is an uncommon clinical sequela and the imaging findings of optic neuropathy in these patients have not previously been described. We present a patient with PDH deficiency with bilateral decreased vision in whom MRI demonstrated bilateral optic neuropathy and chiasmopathy.

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References

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Author notes

  1. Guido E. Gonzalez

    Present address: Departmento de Imágenes, Clínica Alemana de Santiago, Santiago, Chile

Authors and Affiliations

  1. Department of Radiology, Massachusetts General Hospital and Harvard Medical School, 55 Fruit Street GRB 290, Boston, MA, 02114, USA

    Juan E. Small

  2. Department of Radiology, Massachusetts Eye and Ear Infirmary and Harvard Medical School, Boston, MA, USA

    Guido E. Gonzalez & Paul A. Caruso

  3. Department of Ophthalmology, Massachusetts Eye and Ear Infirmary and Harvard Medical School, Boston, MA, USA

    Karina E. Nagao & David S. Walton

Authors
  1. Juan E. Small
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  2. Guido E. Gonzalez
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  3. Karina E. Nagao
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  4. David S. Walton
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  5. Paul A. Caruso
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Corresponding author

Correspondence to Juan E. Small.

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Small, J.E., Gonzalez, G.E., Nagao, K.E. et al. Optic neuropathy in a patient with pyruvate dehydrogenase deficiency. Pediatr Radiol 39, 1114–1117 (2009). https://doi.org/10.1007/s00247-009-1344-0

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  • DOI: https://doi.org/10.1007/s00247-009-1344-0

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