Abstract
Molybdenum cofactor deficiency (MoCD) is a rare autosomal recessive disorder that may present during the neonatal period with intractable seizures. Co-existence of MoCD and pyloric stenosis is previously reported as a coincidence or common etiology. The etiology of the two conditions is unclear; however, reports demonstrate neuronal deficiency in both. We report a neonate who was diagnosed with MoCD and hypertrophic pyloric stenosis.
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Tezel, G., Oztekin, O., Kalay, S. et al. The association of molybdenum cofactor deficiency and pyloric stenosis. J Perinatol 32, 896–898 (2012). https://doi.org/10.1038/jp.2011.192
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DOI: https://doi.org/10.1038/jp.2011.192
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