case_images: PMC10597626_01
case_images: Images of the patient and the patient's mother. (A) On the posterior lateral side of the patient's right lower leg, a pale solid plaque measuring 2 x 2 cm in size was observed. (B) The patient's mother presented with facial angiofibromas on both malar prominences and in the nasolabial folds.
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case_images: PMC10597626_01_fped-11-1263631-g001.jpg
case_images: F1
case_images: On physical examination, a pale solid plaque measuring 2 x 2 cm was observed on the posterior lateral side of the neonate's right lower leg (Figure 1A). The patient's mother exhibited facial angiofibromas on both malar prominences and in the nasolabial folds (Figure 1B). Transthoracic echocardiography of the neonate confirmed the presence of multiple neoplasms within the interatrial septum, interventricular septum, right ventricular outflow tract, and left ventricle posterior wall (Figures 2A-D, see Supplementary Video S1).
case_images: Transthoracic echocardiography (A-D) showing that there are multiple hyperechogenic masses within the atrial septum (0.765 cm x 0.914 cm and 0.7 cm x 1.2 cm), the interventricular septum (0.816 cm x 1.35 cm) and the inferolateral wall of the left ventricle (1.37 cm x 3.07 cm). Three-dimensional echocardiography (E) and Three-dimensional cardiac computed tomography angiography (F) confirmed the detection of cardiac multiple masses. M, mass; RA, right atrium; RV, right ventricle; LA, left atrium; LV, left ventricle; AO, ascending aorta.
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case_images: PMC10597626_01_fped-11-1263631-g002.jpg
case_images: F2
case_images: Transthoracic echocardiography of the neonate confirmed the presence of multiple neoplasms within the interatrial septum, interventricular septum, right ventricular outflow tract, and left ventricle posterior wall (Figures 2A-D, see Supplementary Video S1). The largest nodule, measuring approximately 31 x 14 mm, was located in the inferolateral wall of the left ventricle, extending from the level of the mitral valve to the papillary muscle, with unclear borders and protrusion towards the pericardium (Figure 2C). Three-dimensional cardiac computed tomography angiography (Figure 2F, see Supplementary Video S2) further confirmed the presence of multiple tumorous masses in the heart. Three-dimensional cerebral computed tomography angiography revealed multiple nodular, high-density shadows with distinct borders in various regions, including the left fronto-parietal lobe, right frontotemporal lobe, and bilateral subependyma of the lateral ventricles.
case_images: Three-dimensional cerebral computed tomography angiography showing multiple nodular high-density shadows with distinct borders. These shadows were distributed across several regions, including the left fronto-parietal lobe, right frontotemporal lobe, and bilateral subependyma of the lateral ventricles. A prominent lesion, measuring approximately 1.2 x 1.4 cm, was observed adjacent to the frontal horn of the right lateral ventricle (arrow).
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case_images: PMC10597626_01_fped-11-1263631-g003.jpg
case_images: F3
case_images: A prominent lesion measuring approximately 1.2 x 1.4 cm was observed adjacent to the frontal horn of the right lateral ventricle (Figure 3, see Supplementary Video S3).