Abstract
Introduction: Sulfite oxidase deficiency (SOD) is an autosomal recessive inherited disease usually
presenting in the neonatal period with severe neurological symptoms including seizures,
often refractory to anticonvulsant therapy, and a rapidly progressive encephalopathy
resembling neonatal hypoxic ischemia, with premature death. Most patients develop
dislocated ocular lenses. Later or milder presentations of SOD are being reported
with increasing frequency. These presentations include neurological regression with
loss of previously acquired milestones or movement disorders. Case report: We report a four years old girl presenting with intermittent ataxia and uncoordinated
limb movements. A similar episode of ataxia had occurred previously, one year before,
with complete neurologic recovery and normal developmental milestones. Bilateral lens
dislocation had been recently diagnosed. Cranial MRI demonstrated bilateral globus
pallidus enhancement. Low homocysteine was found in plasma and SulfitestR was positive. Further investigations led to confirmation of isolated sulfite oxidase
deficiency with no enzyme activity detected on skin fibroblasts culture. Discussion: This case illustrates the clinical variability of SOD and it is not only atypical
but also seems to be the mildest form described so far. The association of ectopia
lentis with a movement disorder, even without psychomotor regression, should prompt
us to look for this diagnosis.
Keywords
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Article info
Publication history
Published online: March 01, 2013
Accepted:
January 30,
2013
Received in revised form:
January 29,
2013
Received:
October 24,
2012
Identification
Copyright
© 2013 The Japanese Society of Child Neurology. Published by Elsevier Inc. All rights reserved.
