PMC10442816_01
Physical and neuroimaging findings at the neonatal period. Cutis marmorata and sandal gap toe in the right leg (A), extensive bilateral polymicrogyria and ventricular dilatation [(B), axial t2-weighted image], and mild sagging of the central cerebellum [(C), sagittal T1-weighted image]. (D) Electropherogram of Sanger sequencing of the patient and his parents. Black arrowheads indicates a somatic mosaic PIK3CA variant.
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F1
She was born by cesarean section at 35 weeks and 5 days of age, with a birth weight of 4,391 g (+5.4 SD), height of 52 cm (+3.2 SD), and occipitofrontal circumference of 44 cm (+9.6 SD). She showed macrocephaly, neonatal hypotonia, frontal bossing, cutis marmorata (Figure 1A), hyperextensibility of the lateral abdomen, syndactyly and sandal gap toe on both feet, and polydactyly of the right hand. Brain magnetic resonance imaging on 18 days of age revealed extensive polymicrogyria (Figure 1B) and mild sagging of the central cerebellum (Figure 1C). The variant from exome sequencing was confirmed by Sanger sequencing (Figure 1D).
Cardiologic evaluation at 7 months old. A II-lead electrocardiogram (ECG) (A-a) when presenting with tachycardia and respiratory distress and a 12-lead ECG (A-b) after recovering sinus rhythm. A chest radiograph showing cardiomegaly, pulmonary congestion, and consolidation (B). A short-axis view of echocardiography when presenting tachycardia and respiratory distress (C-a) and after the initiation of treatment for pulmonary hypertension (C-b).
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F2
Chest X-ray showed cardiomegaly, pulmonary congestion, and consolidation (Figure 2B). Electrocardiogram revealed narrow QRS tachycardia with irregular RR intervals (Figure 2A-a). Echocardiography revealed D-shaped left ventricle (Figure 2C-a) and tricuspid regurgitation, and the estimated right ventricular pressure by the tricuspid regurgitation pressure gradient was 96 mmHg, while her systolic blood pressure was 84 mmHg. Her rhythm returned to the sinus rhythm (Figure 2A-b), and her heart rate reduced to 130-140/min. The shift of the ventricular septum improved (Figure 2C-b), and the estimated right ventricular pressure decreased to 50 mmHg.
PMC10442816_02