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Coexistence of molybdenum cofactor deficiency type A and hypertrophic pyloric stenosis, a new case

Mehmet Satar1, Ahmet İbrahim Kurtoğlu1, Hacer Y Yıldızdaş1

  • 1Department of Neonatology, Çukurova University Faculty of Medicine, Adana, Turkey.

Turkish Archives of Pediatrics
|May 20, 2021
PubMed

Insights

Molybdenum cofactor deficiency, a rare neurometabolic disorder, can manifest as pyloric stenosis. This case report suggests considering hypertrophic pyloric stenosis in infants with molybdenum cofactor deficiency.

Area of Science:

  • Neurology
  • Metabolic Disorders
  • Pediatrics

Background:

  • Molybdenum cofactor deficiency (MCD) is a rare, severe neurometabolic disorder.
  • MCD presents neonatally with seizures, hypotonia, developmental delay, and feeding issues.
  • Pyloric stenosis, a cause of infant vomiting, may be linked to neurological factors.

Keywords:
Molybdenum cofactor deficiency type Anewbornpyloric stenosis

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