BACKGROUND: Real-time shear wave elastography (SWE) is non-invasive and reliable for quantitatively evaluate stiffness of tissues and organs. Until now, little researches have applied SWE to evaluate brain tissue of premature neonates. This study sought to compare differences in the average brain tissue elasticity modulus (Emean) values of neonates, and explore the factors affecting these differences.
METHODS: In total, 159 neonates admitted from December 2019 to February 2021 were taken as the study subjects and divided into 2 groups based on their time of birth. Premature neonates, full-term neonates, and neonates with neonatal pneumonia were included in this study. Of the 159 neonates, 76 were premature and 83 were full-term. SWE was used to quantitatively evaluate the Emean of bilateral paraventricular white matter, thalamus, and choroid, and to analyze the relationship between body mass index (BMI) and Emeans in both groups of neonates.
RESULTS: The Emeans of the paraventricular white matter, thalamus, and choroid of the premature neonates were lower than those of the full-term neonates (P<0.001). The BMI of the premature and full-term neonates was positively correlated to the bilateral paraventricular white matter, thalamus, and choroid Emean.
CONCLUSIONS: SWE can be used to quantitatively evaluate the brain tissue stiffness of neonates, and as a reference for neonatal brain-related diseases.

Perinatal lethal Gaucher disease (PLGD), a particular and serious form of type 2 Gaucher disease (GD), often causes lethality in utero or death within hours after birth. The typical clinical manifestations include non-immune hydrops fetalis (NIHF), premature birth, fetal growth restriction, fetal intrauterine death, or neonatal distress and rapid death after birth. Here, we present a premature neonate with GD whose main clinical manifestations included intrauterine growth retardation, anasarca, facial dysmorphia, ichthyosis, respiratory distress, hepatosplenomegaly, joint contractures, myoclonus, refractory thrombocytopenia, anemia, elevated levels of liver enzymes, bile acid and direct bilirubin, cholestasis, pulmonary hypoplasia, intracranial hemorrhage, and abnormal electroencephalogram. The activity of β- glucocerebrosidase was 0 in the peripheral white blood cells of the neonate. The sequencing analysis identified the presence of missense G234E and H413P heterozygous mutations in glucerebrosidase (GBA) exon 7 and 10, with the latter first observed to be associated with PLGD. This infant died at 73 days of age.