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[Molybdenum cofactor deficiency caused by MOCS1 gene mutation: a case report].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Apr 2021

Wu Lian-Hong, Jiang Yan, Hu Yue

Abstract excerpt

A boy attended the hospital at the age of 1 month due to left hand tremor for 1 week. A blood test showed a reduction in serum uric acid and a cranial MRI showed encephalomalacia, atrophy, and cystic changes. The boy had microcephalus, unusual facial features (long face, long forehead, protruded forehead, long philtrum, low nasal bridge, facial swelling, and thick lower lip), hypertonia of lower extremities, and...

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PMID: 33840416
PMCID: PMC8050547

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