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.
MeSH terms
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Brain / pathology*
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Brain / physiopathology
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Brain Diseases, Metabolic, Inborn / complications*
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Brain Diseases, Metabolic, Inborn / pathology*
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Brain Diseases, Metabolic, Inborn / physiopathology
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Coenzymes*
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Dandy-Walker Syndrome / etiology*
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Dandy-Walker Syndrome / pathology*
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Dandy-Walker Syndrome / physiopathology
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Humans
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Infant, Newborn
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Magnetic Resonance Imaging
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Male
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Metalloproteins / deficiency*
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Metalloproteins / genetics*
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Molybdenum Cofactors
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Oxidoreductases Acting on Sulfur Group Donors / deficiency
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Oxidoreductases Acting on Sulfur Group Donors / genetics
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Pteridines
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Sulfur Compounds / urine
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Uric Acid / urine
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Xanthine Dehydrogenase / deficiency
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Xanthine Dehydrogenase / genetics
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Xanthines / urine
Substances
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Coenzymes
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Metalloproteins
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Molybdenum Cofactors
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Pteridines
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Sulfur Compounds
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Xanthines
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Uric Acid
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molybdenum cofactor
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Xanthine Dehydrogenase
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Oxidoreductases Acting on Sulfur Group Donors