CT and MR appearance of the brain in two children with molybdenum cofactor deficiency
B A Appignani1, E M Kaye, S M Wolpert
1Department of Neuroradiology, Tufts New England Medical Center, Boston, Massachusetts, USA.
Insights
Molybdenum cofactor deficiency in children presents with early brain imaging abnormalities. Progressive brain volume loss and impaired myelination are key indicators of this rare metabolic disorder.
Area of Science:
- Neuroimaging
- Pediatric Neurology
- Metabolic Disorders
Background:
- Molybdenum cofactor deficiency (MocoCD) is a rare, severe autosomal recessive metabolic disorder.
- It results from defects in the synthesis of the molybdenum cofactor (Moco), essential for several enzymes.
- Early diagnosis and intervention are crucial for managing MocoCD.
Observation:
- Two pediatric patients diagnosed with molybdenum cofactor deficiency were studied.
- Initial CT scans revealed diffuse low attenuation in the cerebral white matter, basal ganglia (caudate nuclei), and thalamus shortly after birth.
- Subsequent MRI examinations showed evolving neurological changes.
Findings:
- Progressive cerebral atrophy, evidenced by widening of sulci, ventricles, and cisterna magna, was observed in both patients.
- Significant loss of brain volume was a consistent finding on serial MR imaging.
- Cessation of myelination was noted by 31 months and 16 weeks of age, indicating severe white matter abnormalities.
Implications:
- Neuroimaging plays a critical role in identifying the characteristic brain abnormalities in MocoCD.
- The findings highlight the severe neurodevelopmental impact of MocoCD, particularly on white matter development.
- Understanding these imaging patterns can aid in earlier diagnosis and management strategies for affected children.
Abstract:
Imaging findings in two children with molybdenum cofactor deficiency included, in one, diffuse low attenuation on CT in cerebral white matter, caudate nuclei, and thalami soon after birth. MR in both patients later demonstrated progressive widening of the sulci, ventricles, and cisterna magna, and loss of brain volume. MR finally showed cessation of myelination at 31 months and 16 weeks of age.
