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Prenatal brain disruption in molybdenum cofactor deficiency.

Nirit Carmi-Nawi1, Gustavo Malinger, Hanna Mandel

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Molybdenum cofactor deficiency can cause severe prenatal brain damage, mimicking other conditions. This case highlights its early neurological signs and genetic basis.

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Area of Science:

  • Genetics
  • Neurology
  • Biochemistry

Background:

  • Molybdenum cofactor deficiency (MCD) is a rare, inherited metabolic disorder.
  • It can lead to severe neurological impairment presenting in the neonatal period.
  • MCD is often misdiagnosed as hypoxic-ischemic encephalopathy due to similar symptoms.

Observation:

  • A fetus at 35 weeks gestation exhibited diffuse brain damage, including subcortical cavities, ventriculomegaly, corpus callosum dysgenesis, and cerebellar hypoplasia.
  • Postnatal MRI confirmed brain atrophy and multicystic encephalomalacia.
  • Neurological examination at 10 months revealed microcephaly, profound intellectual disability, and spasticity.

Findings:

  • Biochemical analysis showed low uric acid, elevated urinary taurine and xanthine, and a positive sulfite test.
  • Fibroblast sulfite oxidase activity was undetectable.
  • Genetic testing revealed homozygosity for the 251-418del mutation in the MOCS1 gene.

Implications:

  • This is the first report detailing the prenatal manifestation of severe brain disruption in molybdenum cofactor deficiency.
  • Early prenatal diagnosis is crucial for timely intervention and management.
  • Understanding the prenatal presentation aids in differentiating MCD from other neonatal neurological disorders.