Molybdenum cofactor deficiency (MoCD): management
Evidence-based neurology checklist on molybdenum cofactor deficiency (mocd): management: Magnetic resonance imaging (MRI) brain: features Cerebral infarction Cerebral atrophy Pontocerebellar hypoplasia Intracerebral haemorraghe Corpus callosum dysgenesis Retrocerebellar cyst Cortical-subcortical…
Magnetic resonance imaging (MRI) brain: features
- Cerebral infarction
- Cerebral atrophy
- Pontocerebellar hypoplasia
- Intracerebral haemorraghe
- Corpus callosum dysgenesis
- Retrocerebellar cyst
- Cortical-subcortical white matter band
- Cerebellar nuclei signal abnormalities
- Widespread restricted diffusion
Magnetic resonance spectroscopy (MRS)
Prenatal ultrasond
Electroencephalogram (EEG)
Blood investigations
Urine investigations
Main treatment
Supportive treatment
References
- Nagappa M, Bindu PS, Taly AB, Sinha S, Bharath RD. Child Neurology: Molybdenum cofactor deficiency. Neurology 2015; 85:e175-e178.
- Atwal PS, Scaglia F. Molybdenum cofactor deficiency. Mol Genet Metab 2016; 117:1-4.
- Vijayakumar K, Gunny R, Grunewald S, et al. Clinical neuroimaging features and outcome in molybdenum cofactor deficiency. Pediatr Neurol 2011; 45:246-252.
- Stence NV, Coughlin CR 2nd, Fenton LZ, Thomas JA. Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency. Pediatr Radiol 2013; 43:882-885.
- Duan J. Teaching NeuroImage: A 2-year-old girl with molybdenum cofactor deficiency. Neurology 2024; 102:e209317.
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