Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency

Sintha D Sie, Rogier C J de Jonge, Henk J Blom, Margot F Mulder, Jochen Reiss, R J Vermeulen, Cacha M P C D Peeters-Scholte

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12 Citations (Scopus)


Molybdenum cofactor (Moco) deficiency is a rare neurometabolic disorder, characterized by neurological impairment and refractive seizures, due to toxic accumulation of sulfite in the brain. Earlier it was suggested that in Moco-deficient humans maternal clearance of neurotoxic metabolites prevents prenatal brain damage. However, limited data are available about the time profile in which neurophysiologic deterioration occurs after birth. The amplitude-integrated electroencephalography (aEEG) is a bedside method in neonates to monitor cerebral recovery after hypoxic-ischemic insults, detect epileptic activity, and evaluate antiepileptic drug treatment. We describe a chronological series of changes in aEEG tracings in a neonate with Moco deficiency. He presented with myoclonic spasms and hypertonicity a few hours after birth, however, the aEEG pattern was still normal. Within 2 days, the aEEG rapidly changed into a burst suppression pattern with repetitive seizures. After antiepileptic treatment, the aEEG remained abnormal. In this patient, the normal aEEG pattern at birth may have been due to maternal clearance of sulfite in utero. After birth, accumulation of sulfite causes progressive brain damage, reflected by the progressive depression of the aEEG tracings. This is in agreement with the results from a Moco-deficient mouse model, suggesting that maternal sulfite clearance suppresses prenatal brain damage. To our knowledge, this is the first case report describing the chronological changes in the aEEG pattern in a Moco-deficient patient. Insight into the time profile in which neurologic deterioration in Moco-deficient humans occurs is essential, especially when potential treatment strategies are being evaluated.

Original languageEnglish
Pages (from-to)S401-7
JournalJournal of Inherited Metabolic Disease
Volume33 Suppl 3
Publication statusPublished - Dec 2010


  • Anticonvulsants/therapeutic use
  • Brain Waves/drug effects
  • Brain/drug effects
  • Coenzymes/deficiency
  • Diffusion Magnetic Resonance Imaging
  • Electroencephalography
  • Epilepsy/diagnosis
  • Humans
  • Infant, Newborn
  • Male
  • Metal Metabolism, Inborn Errors/diagnosis
  • Metalloproteins/deficiency
  • Molybdoferredoxin/genetics
  • Predictive Value of Tests
  • Pteridines
  • Sulfites/metabolism
  • Time Factors
  • Treatment Outcome

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