Abstract
Molybdenum cofactor deficiency is a rare and devastating disease leading to intractable
seizures in the neonatal period. Severe loss of neocortical neurons, gliosis, and
cystic necrosis of cerebral white matter resulting in significant cerebral volume
loss are the neuropathological findings. The mechanism of cerebral injury is unknown,
but sulphite excess, and sulphate or uric acid deficiencies are possible factors.
We present here a new case of Molybdenum cofactor deficiency associated with Dandy–Walker
complex with a history of three dead siblings, the latter also having Dandy–Walker
malformation. We speculate that severe cerebral volume loss due to the above mentioned
mechanisms may lead to an appearance resembling Dandy–Walker malformation.
Keywords
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Article info
Publication history
Accepted:
August 20,
2001
Received in revised form:
August 19,
2001
Received:
February 26,
2001
Identification
Copyright
© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
