case_images: PMC10776187_01
case_images: Frontal view of patient at 51 weeks of age displaying several distinctive features including almond-shaped eyes with epicanthic folds, mild ptosis bilaterally, widened nasal bridge, mild brachydactyly in her feet, and a degree of micrognathia (Figure 1).
case_images: CRIG2024-5906936.001.jpg
case_images: PMC10776187_01_CRIG2024-5906936.001.jpg
case_images: fig1
case_images: She displayed several distinctive features including almond-shaped eyes with epicanthic folds, mild ptosis bilaterally, a widened nasal bridge, mild brachydactyly in her feet, and a degree of micrognathia (Figure 1). She had a nasogastric tube in situ.
case_images: Brain MRI in the patient at the age of 51 weeks. (a) Axial, T2-weighted images showing bilateral high signal intensity in the lentiform nuclei, putamen, and globus pallidus. (b) Axial, T2-weighted images showing bilateral high signal intensity in the cerebral peduncles and midbrain.
case_images: CRIG2024-5906936.002.jpg
case_images: PMC10776187_01_CRIG2024-5906936.002.jpg
case_images: fig2
case_images: T2 with restricted diffusion on diffusion-weighted imaging in the lentiform nuclei, putamen, and globus pallidus. There was a slight enlargement of the ventricles, suggestive of early volume loss, and evidence of change in the cerebral peduncles and midbrain (Figure 2).