Herein, we report the third case and suggest that hypertrophic pyloric stenosis should be kept in mind as a clinical manifestation of molybdenum cofactor deficiency.
📌 3 Key Takeaways
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Objective & Hypothesis:Molybdenum cofactor deficiency is a rare neurometabolic disease that is usually characterized by seizures, abnormal muscle tonus, developmental delay and poor nutrition, and is seen soon after birth.
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Key Findings & Data:Pyloric stenosis causes serious vomiting in the first months of life.
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Conclusion & Impact:Herein, we report the third case and suggest that hypertrophic pyloric stenosis should be kept in mind as a clinical manifestation of molybdenum cofactor deficiency.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Özet
Molybdenum cofactor deficiency is a rare neurometabolic disease that is usually characterized by seizures, abnormal muscle tonus, developmental delay and poor nutrition, and is seen soon after birth. Pyloric stenosis causes serious vomiting in the first months of life. The presence of neurologic damage in molybdenum cofactor deficiency and possible abnormal innervations may cause pyloric stenosis; however, the pathogenesis is unclear. Pyloric stenosis with molybdenum cofactor deficiency has been described in two cases. Herein, we report the third case and suggest that hypertrophic pyloric stenosis should be kept in mind as a clinical manifestation of molybdenum cofactor deficiency.
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Cite This Article
SATAR, M., KURTOĞLU, A. İ., YILDIZDAŞ, H. Y., MUNGAN, N. Ö., ÖZLÜ, F., BİŞGİN, A. (2021). Coexistence of molybdenum cofactor deficiency type A and hypertrophic pyloric stenosis, a new case. Turkish archives of pediatrics (Online), Cilt: 56 - Sayı: 1, 78–80. https://ajindex.com/articles/369981
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