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CASE REPORT
Year : 2010  |  Volume : 2  |  Issue : 3  |  Page : 133-138

Molybdenum cofactor deficiency: Report of a new case and literature review


Department of Pediatrics, Division of Child Neurology, Sheikh Khalifa Medical City, Abu Dhabi, U.A.E

Correspondence Address:
Waseem M Fathalla
Department of Pediatrics, Division of Child Neurology, Sheikh Khalifa Medical City, Abu Dhabi
U.A.E
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1947-489X.210984

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We report a case of genetically confirmed molybdenum cofactor deficiency in an infant presenting with difficult to control neonatal seizures, and a severe cystic leukoencephalopathy on brain magnetic resonance imaging (MRI). This is a rare disease entity that can be easily missed or confused with hypoxic ischemic encephalopathy. Raising awareness regarding this condition has significant implications regarding genetic counseling, prognostication, and possibly medicolegal liability. We report a case confirmed by genetic testing that revealed a mutation previously unreported to the best of our knowledge. We discuss the clinical presentation, imaging findings, and review the literature on this under-recognized disease.


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