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J Perinatol. 2012 Nov;32(11):896-8. doi: 10.1038/jp.2011.192.

The association of molybdenum cofactor deficiency and pyloric stenosis.

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  • 1Division of Neonatology, Department of Pediatrics, Akdeniz University Medical School, Antalya, Turkey. gonultezel@hotmail.com


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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