Clinical Neuroimaging Features and Outcome in Molybdenum Cofactor Deficiency

• Published in: Pediatric neurology Vol. 45; no. 4; pp. 246 - 252
• Main Authors: Vijayakumar, Kayal, Gunny, Rox, Grunewald, Stephanie, Carr, Lucinda, Chong, Kling W., DeVile, Catherine, Robinson, Robert, McSweeney, Niamh, Prabhakar, Prab
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.10.2011; Elsevier
• Subjects: Aminoacid disorders; Atrophy; Atrophy - pathology; Biological and medical sciences; Brain - pathology; Central nervous system; Cerebellum; Cerebral hemispheres; Cerebral infarction; Child; Child, Preschool; Children; Cofactors; Cysts; Data processing; Disease Progression; Dislocation; EEG; Encephalopathy; Errors of metabolism; Eye lens; Female; Humans; Hypoplasia; Infant; Infant, Newborn; Language; Magnetic resonance imaging; Male; Medical sciences; Metabolic diseases; Metal Metabolism, Inborn Errors - pathology; Molybdenum; Molybdoferredoxin; Nerve Fibers, Myelinated - pathology; Neuroimaging; Neurology; Pediatrics; Substantia alba; Nervous system diseases; Prognosis; Cofactor; Molybdenum; Deficiency
• ISSN: 0887-8994; 1873-5150; 1873-5150
• DOI: 10.1016/j.pediatrneurol.2011.06.006

Molybdenum cofactor deficiency predominantly affects the central nervous system. There are limited data on long-term outcome or brain magnetic resonance imaging (MRI) features. We examined the clinical, brain MRI, biochemical, genetic, and electroencephalographic features and outcome in 8 children with a diagnosis of molybdenum cofactor deficiency observed in our institution over 10 years. Two modes of presentation were identified: early (classical) onset with predominantly epileptic encephalopathy in 6 neonates, and late (atypical) with global developmental impairment in 2 children. Children in both groups had varying degrees of motor, language, and visual impairment. There were no deaths. Brain MRI demonstrated cerebral infarction in all but one child in the atypical group. Distinctive features were best observed on early brain MRI: acute symmetrical involvement of the globus pallidi and subthalamic regions coexisting with older cerebral hemisphere infarction, chronic lesions suggestive of a prenatal insult, pontocerebellar hypoplasia with retrocerebellar cyst, and presence of a distinctive band at the cortical/subcortical white matter. Sequential imaging revealed progressive pontine atrophy and enlargement of retrocerebellar cyst. The brain MRI of one child with atypical presentation (verbal dyspraxia, lens dislocation) showed symmetrical cerebellar deep nuclei signal abnormality without cerebral infarction. Imaging pattern on early brain MRI (<1 week) may prompt the diagnosis, potentially allowing early treatment and disease modifications.