The association of molybdenum cofactor deficiency and pyloric stenosis
JOURNAL OF PERINATOLOGY, vol.32, no.11, pp.896-898, 2012 (SCI-Expanded)
- Publication Type: Article / Article
- Volume: 32 Issue: 11
- Publication Date: 2012
- Doi Number: 10.1038/jp.2011.192
- Journal Name: JOURNAL OF PERINATOLOGY
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.896-898
- Keywords: neonate, molybdenum cofactor deficiency, hypertrophic pyloric stenosis
- Open Archive Collection: AVESIS Open Access Collection
- Akdeniz University Affiliated: Yes
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. Journal of Perinatology (2012) 32, 896-898; doi:10.1038/jp.2011.192