The association of molybdenum cofactor deficiency and pyloric stenosis

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TEZEL G., OZTEKIN O., KALAY S., ASLAN A., AKCAKUS M., OYGÜR N.

JOURNAL OF PERINATOLOGY, cilt.32, sa.11, ss.896-898, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32 Sayı: 11
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1038/jp.2011.192
  • Dergi Adı: JOURNAL OF PERINATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.896-898
  • Anahtar Kelimeler: neonate, molybdenum cofactor deficiency, hypertrophic pyloric stenosis
  • Akdeniz Üniversitesi Adresli: Evet

Özet

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