Novel Imaging Finding and Novel Mutation in an Infant with Molybdenum Cofactor Deficiency, a Mimicker of Hypoxic-Ischaemic Encephalopathy

Molybdenum cofactor deficiency is a rare metabolic disorder manifesting with early onset seizures, developmental delay, microcephaly, and spasticity. In this report, we describe a three-month-old infant with neonatal onset, poorly controlled seizures, developmental delay, microcephaly, spastic quadr...

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Detalles Bibliográficos
Autores principales: YOGANATHAN, Sangeetha, SUDHAKAR, SniyaVALSA, THOMAS, Maya, KUMAR DUTTA, Atanu, DANDA, Sumita, CHANDRAN, Mahalakshmi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5904745/
https://www.ncbi.nlm.nih.gov/pubmed/29696052

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5904745/
https://www.ncbi.nlm.nih.gov/pubmed/29696052

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