Schuurs‐Hoeijmakers syndrome is a rare disease characterized by intellectual disability and dysmorphic facial features among various physical abnormalities due to PACS1 mutation. To date, 28 patients with a recurrent de novo PACS1 mutation (c.607C > T) have been reported, primarily in Western populations. Here, we describe two Japanese patients with Schuurs‐Hoeijmakers syndrome with a recurrent PACS1 mutation. In addition to the typical clinical symptoms, each patient presented novel clinical phenotypes. One patient presented with involuntary movements and was treated with trihexyphenidyl hydrochloride. We hypothesized that the PACS1 mutation leads to an inherent dopaminergic insufficiency that underlies the developing symptoms along with the neurodevelopmental processes. The second patient was diagnosed with lipomyelomeningocele during an examination for severe constipation at the age of 2 years and 8 months. The diagnosis of lipomyelomeningocele in this patient was delayed due to the lack of cutaneous lesions. As the majority of patients with PACS1 mutation present constipation, underdiagnosis of lipomyelomeningocele is a possibility. As the phenotypic expansion of the patients with Schuurs‐Hoeijmakers syndrome was not fully recognized, additional studies are needed to clarify the clinical spectrum.

Objective This study aimed to investigate the utility of lung ultrasound (LUS) with whole chest scanning for predicting respiratory outcomes in patients with bronchopulmonary dysplasia (BPD). Study Design We performed a prospective observational study. Preterm infants of less than 32 weeks' gestational age requiring oxygen therapy at 28 days of life were included. LUS was performed on day 28, at 36 weeks' postmenstrual age, and at the time of discharge. Each lung was divided into three regions by the anterior and posterior axillary lines and received an LUS score of 0 to 3 points; the total score was obtained by adding the six regional scores. The classification of BPD was determined based on the National Institute of Child and Human Development. The outcomes of this study were the development of moderate-to-severe BPD and the need for home oxygen therapy (HOT). Results We enrolled 87 patients; 39, 33, and 15 infants had mild, moderate, and severe BPD, respectively. The LUS score correlated with BPD severity and exhibited an improvement trend with time toward the point of discharge. LUS at 28 days of life predicted moderate-to-severe BPD with an area under the curve of 0.95 (95% confidence interval: 0.91–0.99) and HOT with an area under the curve of 0.95 (95% confidence interval: 0.81–1.0). Conclusion LUS with whole chest scanning is useful for predicting respiratory outcomes in patients with BPD, as well as for understanding BPD severity or clinical improvement trends. Key Points

Background The purpose of this study was to investigate the usefulness of ultrasonography (US) for confirmation of endotracheal tube (ETT) placement during resuscitation in extremely low birthweight (ELBW) infants. Methods We conducted a retrospective review of the medical records of ELBW infants in whom ETT position was verified using US between June 2016 and September 2017. We investigated the backgrounds of the patients and US investigators, and the time required for the detection of exhaled carbon dioxide using the colorimetric method and US. Results Eleven ELBW infants were evaluated using US by four neonatologists. The median duration required to determine the ETT position by the colorimetric method and US were 11 s and 3 s, respectively. In six ELBW infants, we were able to verify the ETT position more rapidly using US than using the colorimetric method, and were able to perform prompt resuscitation. Unnecessary reintubations were avoided in three ELBW infants. Conclusion Ultrasonography allowed the swift confirmation of the tracheal intubations. The colorimetric method yielded false negative results; in such cases, unnecessary reintubation could have been avoided if US was used. We assessed the mechanism of false negative results and performed appropriate resuscitation.

Purpose: To investigate the development of diaphragmatic dysfunction in ventilated extremely preterm infants (EPI) using diaphragm ultrasound (DU). Methods: EPI of less than 28 weeks' gestational age who required mechanical ventilation within six hours of birth were included in this prospective, observational study. The DU was performed once a day until four days of life. End-inspiratory and end-expiratory thicknesses of the diaphragm were measured and the diaphragm thickening fraction was calculated.Results: A total of 20 EPI were enrolled. After intubation, there was a progressive reduction in endinspiratory thicknesses of the diaphragm from baseline to day 1 (P < 0.001), but not from day 1 to day 2 (P = 0.078), day 2 to day 3 (P = 1.0), or day 3 to day 4 (P = 1.0). There was also a signi cant reduction in the diaphragm thickening fraction from baseline to day 1 (P < 0.001), but not from day 1 to day 2 (P = 1.0), day 2 to day 3 (P = 1.0), or day 3 to day 4 (P = 1.0).Conclusions: This study provides the rst evidence of diaphragmatic dysfunction in ventilated EPI. We demonstrated a rapid progression of ventilator-induced diaphragmatic dysfunction, with a signi cant reduction in diaphragm thickness and thickening fraction within 24 hours of ventilation.

Background Appropriate management of the endotracheal tube (ETT) insertion depth is important. The depth calculated using Tochen’s formula is overestimated in extremely‐low‐ birthweight infants, particularly those with a birthweight <750 g. Gestational age has been shown to be particularly useful in the Neonatal Resuscitation Program, 7th edition.5 However, a randomized trial for estimating the ETT insertion depth failed to show the advantage of using gestational age over birthweight.6 Therefore, we aimed to estimate the appropriate ETT insertion depth in neonates weighing <750 g. Methods This was a single‐center, retrospective observational study including neonates weighing <750 g who required intubation. The appropriate depth was determined by adjusting the distance between the actual ETT position and the area from the first to the second thoracic vertebra on the radiograph. Correlations between gestational age and physique were investigated using Pearson’s correlation coefficient. We examined small‐for‐ gestational‐age (SGA) infants and non‐SGA infants separately. Results Forty neonates were enrolled in this study. The mean gestational age and birthweight were 26.3 weeks and 620 g respectively. Twenty infants were SGA. The ETT position was deep in 35 of 40 cases, with the strongest correlation between weight and ETT insertion depth. The correlation with gestational age was not observed in this study. Conclusions Our study showed that the ideal ETT insertion depth at birth correlates with birthweight in neonates weighing <750 g. Therefore, determination by gestational age may not be feasible in populations with a high proportion of SGA infants.