Molybdenum-cofactor deficiency: CT and MR findings

Area of Science:

• Neurology
• Metabolic Disorders
• Radiology

Background:

• Molybdenum-cofactor deficiency is a rare genetic metabolic disorder.
• It results from defects in molybdenum-containing enzyme cofactors, crucial for various metabolic pathways.
• Early diagnosis and intervention are critical due to severe neurological consequences.

Purpose of the Study:

• To describe the characteristic CT and MR imaging findings in infants with molybdenum-cofactor deficiency.
• To evaluate the utility of neuroimaging in identifying brain abnormalities associated with this disorder.
• To correlate imaging findings with clinical presentation and diagnosis.

Main Methods:

• Retrospective review of CT and/or MR imaging studies from four children diagnosed with molybdenum-cofactor deficiency.
• Analysis of imaging findings including leukencephalopathy, myelination patterns, ventricular morphology, and basal ganglia/corpus callosum volume.
• Correlation of imaging findings with clinical symptoms (intractable seizures) and laboratory diagnostics.

Main Results:

• All patients exhibited multicystic leukencephalopathy and normal brainstem myelination for newborns.
• A striking finding was the abnormal shape of frontal horns due to severe volume loss in basal ganglia (especially caudate nucleus) and corpus callosum.
• MRI demonstrated superior detail of these lesions compared to CT.

Conclusions:

• CT and MR imaging reveal findings consistent with severe perinatal brain damage in molybdenum-cofactor deficiency.
• The abnormal frontal horn shape, while not entirely specific, may suggest this diagnosis in neonates with intractable seizures.
• Neuroimaging plays a vital role in identifying characteristic brain abnormalities and supporting the diagnosis of molybdenum-cofactor deficiency.