Tolvaptan is effective for the treatment of massive edema caused by NS. Larger studies are needed in the future to fully assess the value and safety of tolvaptan use for this condition.

BackgroundVariants in the type IV collagen gene (COL4A1/2) cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and the prenatal features of individuals with COL4A1/2 variants remain unclear.MethodsWe examined COL4A1/2 in 218 individuals with suspected COL4A1/2-related brain defects. Among those arising from COL4A1/2 variants, we focused on individuals showing prenatal abnormal ultrasound findings and validated their prenatal and postnatal clinical features in detail.ResultsPathogenic COL4A1/2 variants were detected in 56 individuals (n=56/218, 25.7%) showing porencephaly (n=29), schizencephaly (n=12) and others (n=15). Thirty-four variants occurred de novo (n=34/56, 60.7%). Foetal information was available in 47 of 56 individuals, 32 of whom (n=32/47, 68.1%) had one or more foetal abnormalities. The median gestational age at the detection of initial prenatal abnormal features was 31 weeks of gestation. Only 14 individuals had specific prenatal findings that were strongly suggestive of features associated with COL4A1/2 variants. Foetal ventriculomegaly was the most common initial feature (n=20/32, 62.5%). Posterior fossa abnormalities, including Dandy-Walker malformation, were observed prenatally in four individuals. Regarding extrabrain features, foetal growth restriction was present in 16 individuals, including eight individuals with comorbid ventriculomegaly.ConclusionsPrenatal observation of ventriculomegaly with comorbid foetal growth restriction should prompt a thorough ultrasound examination and COL4A1/2 gene testing should be considered when pathogenic variants are strongly suspected.

A B Figure. A, Microscopic examination confirmed giant cell transformation of hepatocytes (hematoxylin and eosin staining). B, Café-au-lait spots following the Blaschko line on her neck and anterior chest.

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Herein we describe the case of a 1-month-old boy with acute viral myocarditis, who presented with two kinds of paroxysmal supraventricular tachycardia, and who was cured after medical treatment. He was brought to the emergency room with poor feeding due to fever. On the third day of hospitalization, a narrow QRS tachycardia (180-200 beats/min) was detected. Echocardiography showed a high echoic area at the atrial septum around the atrioventricular node. The patient was clinically diagnosed with acute myocarditis. The narrow QRS tachycardia was diagnosed as incessant junctional ectopic tachycardia. The patient was treated with propranolol and landiolol. The frequency of the tachycardia decreased, but a different narrow QRS tachycardia was detected on the 15th day of hospitalization on electrocardiogram (220 beats/min), which was ascribed to atrioventricular nodal re-entrant tachycardia. Atenolol was effective for the tachycardia. At 2 years follow up, cardiac function was normal and tachycardia had not recurred.