case_images: PMC8114604_01
case_images: Cranial MRI shows pachygyria, incomplete lissencephaly and cerebellar hypoplasia
case_images: TAP-56-1-78-g01.jpg
case_images: PMC8114604_01_TAP-56-1-78-g01.jpg
case_images: f1-tap-56-1-78
case_images: Cranial MRI revealed pachygyria, incomplete lissencephaly and cerebellar hypoplasia (Figure 1).
case_images: Molecular analysis presenting MOCS1 mutation, p.R73W in Integrative Genomics Viewer - IGV  software result
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case_images: PMC8114604_01_TAP-56-1-78-g02.jpg
case_images: f2-tap-56-1-78
case_images: MOCS1, MOCS2, sulphite oxidase gene mutations, and chromosomal analysis were performed. Molecular analysis revealed a MOCS1 mutation, p.R73W in the Integrative Genomics Viewer - IGV  software (Figure 2).
case_images: Pyloric wall was 6.5 mm, double wall thickness of 14 mm and 3 cm in vertical axis
case_images: TAP-56-1-78-g03.jpg
case_images: PMC8114604_01_TAP-56-1-78-g03.jpg
case_images: f3-tap-56-1-78
case_images: The baby had projectile vomiting when he was aged 45 days and further examinations revealed the thickness of the pyloric wall was 6.5 mm and double-wall thickness (14 mm) and 3 cm in the vertical axis (Figure 3).