No abstract

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.

Initial manifestations in Alpers' syndrome may be gender specific. In males, the condition should be considered in patients with seizures and encephalopathy, even in the absence of hepatic disease.

No abstract

Objective: We aim to present our experience with infantile Pompe disease with focus on the impact of availability of treatment on awareness, diagnosis, and management of such patients.Method: Case -review study of patients diagnosed with infantile Pompe disease and literature search.