case_images: PMC10860506_01
case_images: Diagram representing clinical and physical features of the 14-year-old male with PTCD presented in this case report including neurologic and head and neck features, chest, cardiac, skeletal, and upper extremity features, lower extremity, and musculoskeletal features. PTCD, pontine tegmental cap dysplasia.
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case_images: Neurologically, he had facial paresis, hypotonia, was nonverbal, and nonambulatory but was able to bear weight and cruise (Figure 1).
case_images: A, MRI Cardiac Morphology with and without contrast 3-chamber long axis view, yellow arrow shows aortic root dilation. B, Cardiac MRI coronal thorax view, yellow box displays dextroconvex scoliosis of the thoracolumbar junction, and multilevel malformations of the thoracic spine segmentation.
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case_images: Normal right ventriular ejection fraction (RVEF) 54% was seen (Figure 2A). In addition, dextroconvex scoliosis of the thoracolumbar junction, secondary to multilevel malformations of the thoracic spine segmentation was also seen (Figure 2B).
case_images: A-D, MRI Spine Cervical-Thoracic-Lumbar without contrast sagittal view T1 weighted. A, The inferior arrow displays partially visualized hypoplasia of the cerebellar peduncles and vermis. The superior arrow demonstrates the pontine tegmentum bulging into the fourth ventricle representing a cap. B, The arrow shows right hemivertebra of T3. C, The arrow shows the butterfly hemivertebra of T6. D, MRI Spine Cervical-Thoracic-Lumbar without contrast axial view T2 weighted. The arrow shows the axial plane through the hemivertebra.
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case_images: The findings included evidence of hindbrain malformations including hypoplasia of the cerebellar peduncles and vermis (Figure 3A). There was a right hemivertebra of T3, butterfly hemivertebra of T6, and left hypoplastic ribs at L1 (Figure 3B-D).