We aim to evaluate the diagnostic significance of caudothalamic groove (CTG) echogenicity on cranial ultrasonography (CUS) by examining its correlation with magnetic resonance imaging (MRI) findings, including susceptibility-weighted imaging (SWI). This retrospective study screened 131 neonatal intensive care unit neonatal intensive care unit infants with diagnostic-quality CUS and MRI (including SWI) performed between January 2019 and April 2022. Among these, 34 had CTG echogenicity on CUS; 18 of the 34 had no corresponding CTG hemorrhage on SWI and formed the analytic cohort. The final cohort included 18 infants (10 males, 8 females; mean gestational age 32.7wk, range 25.3 to 39.3wk). Five (27.8%) were term, 13 (72.2%) were preterm. Initial CUS demonstrating CTG echogenicity was performed at a mean of 15.7 postnatal days; echogenicity was bilateral in 9 (50%) and unilateral in 9 (50%), with teardrop-like morphology in 10 (55.6%). MRI with SWI was performed at a mean of 29 postnatal days (range 2 to 90d). No hemorrhagic changes were observed in the CTG region on SWI. Three patients (16.7%) had normal MRI findings, 15 (83.3%) showed nonhemorrhagic abnormalities, including edema, thin corpus callosum, subependymal cysts, ventricular dilatation, or cortical malformations. This study demonstrates a discordance between CUS and SWI-MRI findings in infants with CTG echogenicity. The presence of term infants and bilateral involvement suggests that CTG echogenicity may be a nonspecific imaging finding that can reflect a variable pathophysiological process. Therefore, confirmatory MRI with SWI may be valuable for accurate diagnosis and clinical decision-making in both preterm and term neonates with isolated CTG echogenicity.

Objective: To explore the association between birth order and early neurodevelopmental outcomes in preterm twin infants. Methods: A retrospective cohort study was conducted on 2 251 of twin neonates admitted to the Department of Neonatology, Children's Hospital of Chongqing Medical University, from January 2020 to December 2024. Clinical data including general characteristics, perinatal outcomes, and neurodevelopmental assessments (cranial ultrasonography, amplitude-integrated electroencephalography (aEEG) and the test of infant motor performance (TIMP) during hospitalization and follow-up up to corrected age ≤4 months, were collected and analyzed. Each pair of preterm twins was grouped into first-born and second-born groups according to birth order. Subgroup analyses were performed according to chorionicity (monochorionic, dichorionic), gestational age at birth (28-31, 32-33, 34-36 weeks), and mode of delivery (vaginal delivery, cesarean section). Paired t test, Wilcoxon signed-rank test, McNemar test or exact McNemar test were used for paired comparisons, and a multivariable regression model accounting for within-pair of twins clustering was further constructed to evaluate the association between birth order and early neurodevelopmental outcomes. Results: A total of 225 twin pairs were enrolled, with a gestational age of (33.9±1.8) weeks. Birth weight was (2 002±389) g in first-born twins and (1 956±363) g in second-born twins; the proportion of males was 52.9% (119/225) and 49.8% (112/225), respectively. The second-born group had higher rates of the first minute Apgar score <7 and respiratory failure compared with the first-born group (both P<0.05), along with lower blood-gas pH and base excess (both P<0.05). There were no differences between the first-born and second-born groups in ventriculomegaly (8.6% (19/221) vs. 12.2% (27/221)) or periventricular-intraventricular hemorrhage (23.1% (51/221) vs. 19.5% (43/221)) (both P>0.05). The second-born twins had lower odds of achieving higher aEEG Burdjalov scores (cumulative OR=0.48, 95%CI 0.33-0.72, P<0.001). No significant deviation of the within-pair TIMP Z-score difference from 0 was observed during hospitalization (P=0.537). In longitudinal analysis (corrected age ≤4 month), the time slope had no difference (β=0.01,95%CI -0.02-0.04, P=0.637). Subgroup analyses showed that lower odds of higher Burdjalov scores for second-borns remained statistical difference in monochorionic twins (cumulative OR=0.34,95%CI 0.14-0.79,P=0.013), dichorionic twins (cumulative OR=0.52,95%CI 0.33-0.82,P=0.005), the gestational age of 32-33 week at birth subgroup (cumulative OR=0.40,95%CI 0.19-0.87, P=0.021), the gestational age 34-36 weeks at birth subgroup (cumulative OR=0.56,95%CI 0.34-0.94,P=0.027), and the cesarean section subgroup (cumulative OR=0.49,95%CI 0.32-0.73,P=0.001), whereas no statistical difference were observed in the gestational age of 28-31 weeks at birth or the birth via vaginal delivery subgroup (all P>0.05). Across all subgroups, no statistical difference was found in periventricular-intraventricular hemorrhage (all P>0.05), and in ventriculomegaly after correction (all q>0.05). In the birth via vaginal delivery subgroup, the difference in TIMP Z-scores compared to 0 had no statistical difference after correction (q=0.269). During the follow-up period, there were no trends in the change of TIMP Z-scores over time (all P>0.05). Conclusions: Birth order was associated with brain functional maturity among preterm twins. Enhanced aEEG monitoring and neurodevelopmental follow-up are recommended for high-risk newborns, including preterm and multiple births, to facilitate early detection and intervention, thus reducing the risk of impaired brain development.

Meconium serves as a valuable biological matrix for characterizing fetal metabolic signatures throughout gestation. Selective fetal growth restriction (sFGR) is associated with adverse neurological outcomes, potentially mediated by underlying metabolic perturbations. However, the specific relationship between dysregulated meconium metabolome and brain injury in sFGR remains poorly understood. Untargeted metabolomics analysis was performed on meconium samples from sFGR (n = 20) and monochorionic diamniotic twins with birth weight concordance (MCDA-C, n = 13) to quantify metabolic alterations. Neonatal brain injury was assessed via cranial ultrasonography, and long-term neurodevelopmental outcomes were evaluated at 2-3 years of age using the Ages and Stages Questionnaire-third edition subscale. Univariate analysis, partial least-squares discrimination analysis (PLSDA) and pathway analysis were employed to compare the metabolic profiles across different brain injury categories. Machine learning algorithms and receiver operating characteristic (ROC) curve were utilized to identify potential biomarkers associated with neonatal brain injury. Spearman's-based correlation analysis was employed to correlate metabolites levels with physical development and long-term neurodevelopmental outcomes. In our study, PLSDA revealed distinct clustering of meconium metabolites profiles in neonates with severe brain injury compared to those with mild brain injury or normal findings. In all sFGR neonates, logistic regression identified two fatty acid metabolism products, 13, 16-docosadienoic acid and nonadecanoic acid, as notably associated with neonatal severe brain injury. Divergent meconium metabolic signatures associated with severe brain injury were observed between the smaller fetus (sFGR-S) and larger fetus (sFGR-L) in sFGR twins. In particular, nicotinamide, hippuric acid, citramalic acid and succinic acid were closely associated with severe brain injury in sFGR-S. Pathway analysis implicated significant dysregulation of the citrate cycle in this subgroup. For sFGR-L, histidine and trans-4-hydroxyproline emerged as best predictive markers for severe brain injury and showed significant correlations with long-term neurodevelopmental outcomes including gross motor and fine motor. Dysregulated fatty acid metabolites in the meconium of sFGR neonates are associated with severe brain injury. Divergent metabolomic profiles between sFGR-S and sFGR-L revealed distinct pathological mechanisms underlying brain injury. These findings provide novel insights into metabolic mechanisms of brain injury in sFGR and offer potential predictive biomarkers for adverse neurological outcomes.

Cranial Ultrasound at 6 Weeks Postnatal Age Versus Term Equivalent Age in High-risk Pre-term Infants: A Prospective Cohort Study.

To describe and evaluate our single-center practice of serial cranial ultrasound (CUS) in preterm infants following the 2020 American Academy of Pediatrics (AAP) clinical report. To evaluate the rate of cranial abnormalities following the first normal scan and identify risk factors for severe intraventricular hemorrhage (IVH) in the first week of life. A single-center retrospective study over an eight-year study period, from 2016-2023. Rates and types of CUS are described and compared over pre- and post-AAP clinical report time epochs. Risk factors associated with severe IVH were analyzed with logistic regression. A total of 727 infants were included. Median number of CUS was 3 (2, 4, IQR) in both pre- and post-AAP cohort periods. CUS were performed in 289 (39.8%) infants before 7 days of life (DOL), 595 (81.8%) at 7-10 DOL, 623 (85.7%) at 4-6 weeks, and 361 (49.7%) at term equivalent age (TEA). The rates of abnormal CUS were 139 (48.1%), 364 (61.2%), 401 (64.4%), and 227 (62.9%) of the infants who had CUS at less than 7 days, 7-10 days, 4-6 weeks, and TEA, respectively. New abnormalities were detected in 13% (48/364) infants following a normal 7-10 DOL scan and 3% (9/290) following a normal 7-10 days and 4-6 weeks scan. Decreased birth gestational age (Odds Ratio, OR = 0.7) advanced resuscitation (OR = 3.4) and birth at outside hospital (OSH) (OR = 2.6) were associated with severe IVH before 7 DOL. Our single-center practice of serial CUS was largely consistent with the AAP clinical report. We report that new findings of abnormality following a normal 7-10 DOL scan are infrequent and limited to grade 1 IVH and benign cysts. We identified birth gestation below 25 weeks, birth at an OSH, and advanced resuscitation as risk factors for severe IVH.

Preterm infants are at risk of brain injury due to immature cerebral autoregulation. However, reliable assessment of cerebral perfusion remains difficult: advanced imaging is rarely feasible at the bedside, and surrogate markers such as blood pressure or oxygen saturation correlate poorly with actual cerebral blood flow. This study aimed to evaluate the velocity and waveform characteristics in the internal cerebral veins (ICV) of preterm infants born before 32 weeks and to explore the relationship between these velocities, clinical parameters, and term-equivalent MRI. Prospectively, a cohort of 47 preterm infants (postmenstrual age 28.9 ± 2.2 weeks, birth weight 1304 ± 386 g) admitted to the NICU at University Hospital Brussels was studied. ICV velocities were measured at multiple time points using Doppler ultrasound as a non-invasive marker of cerebral hemodynamics. Mixed model analysis compared ICV velocities with clinical and term-equivalent MRI results. ICV velocity/weight at the time of scan was significantly associated with postmenstrual age (PMA, p<0.001), postnatal age (PA), and PA squared (both p<0.001), intraventricular hemorrhage (IVH) during admission (p=0.003), and the interaction between gestational age and IVH (p=0.005), reflecting developmental changes in cerebral circulation. IVH was observed in 5 infants. ICV velocity/weight was 1 cm/s/kg higher with IVH at 25 weeks' GA, decreasing to -0.1 cm/s/kg with IVH at 29 weeks' GA. Although the number of IVH cases was limited, these findings suggest that ICV velocity monitoring may provide useful information regarding IVH risk. ICV velocity in preterm infants reflects cerebral maturation. Infants developing IVH showed significantly higher venous velocities, corrected for body weight. Despite limited case numbers, these findings indicate that ICV velocity monitoring could serve as an early marker of hemorrhage risk. Larger studies are needed to confirm its predictive value and explore potential neuroprotective strategies. IVH = Intraventricular Hemorrhage; ICV = Internal Cerebral Vein; NIRS = near-infrared spectroscopy; cUS = Cranial Ultrasound; PMA = postmenstrual age.

ABSTRACT Introduction Cranial ultrasound (cUS) screening is routinely performed in preterm neonates. This study compared cranial ultrasound abnormalities (CUA) detected at 6 weeks postnatal age (PNA) and term equivalent age (TEA) with early neurodevelopment outcomes at 3–4 months corrected age. Methods Pre‐planned substudy of a prospective single‐centre cohort included high‐risk infants born before 32 weeks of gestation who underwent cUS at 6 weeks PNA and TEA. Severe CUAs, defined as significant intraventricular haemorrhage, white matter injury or ventricular enlargement were compared with outcomes at 3–4 months corrected age, including Hammersmith Infant Neurological Examination (HINE), General Movement Assessment (GMA), and early cerebral palsy (CP) diagnosis. Results Fifty‐four infants were included (median gestation 26.8 weeks, birthweight 782 g). Abnormal HINE scores (&lt; 57) were found in 18 (33%), absent fidgety GMAs in 5 (9%), and early CP in 2 (4%). Severe CUAs were not significantly associated with abnormal HINE at 6 weeks PNA ( p = 0.77) or TEA ( p = 0.77), absent fidgety GMAs at 6 weeks PNA ( p = 0.39) or TEA ( p = 0.14) or early CP at 6 weeks PNA ( p = 0.16) or TEA ( p = 0.52). Conclusion In this exploratory study, severe CUAs on cUS were not associated with early neurodevelopmental outcomes. Larger studies are needed to determine whether meaningful associations exist.

The purpose of this study was to evaluate bedside cranial ultrasound (CUS) and contrast-enhanced ultrasound (CEUS) for demonstrating changes in neonatal arterial ischemic stroke (NAIS). Fifteen newborns with symptomatic NAIS underwent a cranial ultrasound examination and subsequently confirmed by magnetic resonance imaging (MRI), were enrolled. Color Doppler Flow Imaging (CDFI) and Pulsed-Wave Doppler (PW) were performed to acquire data from 6 coronal, 5 sagittal, and 3 cerebellar planes through the anterior or mastoid fontanelle. For CEUS, a 2-minute wash-in cine clip and static images were captured. CUS showed all lesions in the blood-supplying region of the middle cerebral artery (MCA), with 10(66.7%) located on the left hemisphere, and on the right. CEUS was performed on 3 neonates to evaluate microvascular perfusion. Two cases showed a large area of non-enhancement on the lesion side, while the third case showed significantly higher enhancement on the lesion side. MRI confirmed all lesions in the MCA blood-supplying region, with 10 on the left hemisphere and 5 on the right. Magnetic resonance angiography (MRA) identified abnormalities in the trunk or branches of the MCA in 8 neonates. Our preliminary results suggest that CUS can evaluate NAIS in conjunction with MRI and CEUS metrics may have potential for clinical quantification, warranting future validation studies.

Neonatal neuroimaging: from research to bedside practice.

This report presents the prenatal imaging findings and short-term clinical outcome of a rare case of fetal cerebral sinovenous thrombosis, along with a brief review of the literature. A 31-year-old pregnant Afghan woman at 34weeks of gestation (gravida 3, para 0, abortion 2) presented to the hospital with complaints of decreased fetal movement. Fetal cranial ultrasonography revealed a thick-walled, avascular, hypoechoic, mass-like lesion (17×18×18mm) extending from the left foramen of Monro to the superior aspect of the thalamus and displacing the body of the left lateral ventricle. Fetal cranial magnetic resonance imaging (MRI) suggested subacute hemorrhage and demonstrated hyperintensity in the left transverse venous sinus, indicative of thrombosis. Serial follow-up revealed stability of the lesion; however, at 36weeks, an emergency cesarean section was performed due to fetal distress. Postnatal cranial MRI and magnetic resonance venography (MRV) confirmed left transverse venous sinus thrombosis with subacute hemorrhage. The newborn received enoxaparin therapy for 3 months, remained clinically stable, and had no neurological deficits at the 4-month follow-up. Fetal intracranial hemorrhage has a broad differential diagnosis, and accurate identification of the underlying etiology is critical for prognosis and management. Fetal cerebral sinovenous thrombosis should be considered in the differential diagnosis when mass-like hemorrhagic lesions are detected on prenatal imaging. While short-term outcomes may be favorable in the absence of additional cranial pathology, the long-term prognosis remains uncertain.

This paper addresses the problem of detecting possible serious bacterial infection (pSBI) of infancy, i.e. a clinical presentation consistent with bacterial sepsis in newborn infants using cranial ultrasound (cUS) images. The captured image set for each patient enables multi-view imagery: coronal and sagittal, with geometric overlap. To exploit this geometric relation, we develop a new learning framework, called the intersection-guided Cross-view Local- and Image-level Fusion Network (CLIF-Net). Our technique employs two distinct convolutional neural network branches to extract features from coronal and sagittal images with newly developed multi-level fusion blocks. Specifically, we leverage the spatial position of these images to locate the intersecting region. We then identify and enhance the semantic features from this region across multiple levels using cross-attention modules, facilitating the acquisition of mutually beneficial and more representative features from both views. The final enhanced features from the two views are then integrated and projected through the image-level fusion layer, outputting pSBI and non-pSBI class probabilities. We contend that our method of exploiting multi-view cUS images enables a first of its kind, robust 3D representation tailored for pSBI detection. When evaluated on a dataset of 302 cUS scans from Mbale Regional Referral Hospital in Uganda, CLIF-Net demonstrates substantially enhanced performance, surpassing the prevailing state-of-the-art infection detection techniques.

Although neonatal neurocritical care (NNCC) programs have existed for decades and have been linked to improved outcomes in high-risk neonates, relatively few institutions have these models in place, and guidance on program development is limited. Designing am NNCC program includes the following: (1) targeting high-risk clinical populations such as infants with hypoxic-ischemic encephalopathy, seizures, and posthemorrhagic hydrocephalus, (2) collaborating with multidisciplinary team members, (3) ensuring availability of equipment to collect key clinical information, including electroencephalograms, cranial ultrasounds, and brain magnetic resonance imaging scans, (4) developing evidence-based pathways, and (5) prioritizing access to follow-up care after discharge. Program implementation requires a needs assessment, financial planning, onboarding and training, and ongoing quality improvement efforts. Importantly, the program should align with parental values and expectations for their child's care. Furthermore, after establishing clinical neurocritical care services, the program can strategically expand to encompass additional clinical pathways, comprehensive formal specialized training, and innovative research opportunities.

Background: Diseases of central nervous system of neonate commonly manifested by seizure, recurrence of which causes permanent damage of central nervous system, increase the risk of epilepsy and cognitive disabilities. Cranial Ultrasonography shows pathologic brain finding and prompt treatment will prevent further damage of immature brain. This study aims to assess cranial ultrasonography findings in neonatal seizure. Methods: This hospital based prospective observational cross-sectional study has been conducted in the Department of Paediatrics, Dhaka Shishu Hospital from January to July 2020. Total 60 neonates presenting with seizure were enrolled in the study by random sampling. Baseline characteristics of convulsing neonates including sex, gestational age, weight, head circumference was recorded at admission. Clinical details of each seizure episode were reported by caregiver and attending doctor i.e., age at onset of seizure, duration of seizure, number and type of seizure. Ultrasonography of Brain was done every neonate having seizure. Informed written consent from caregiver was taken before enrolment. Results: Among 60 neonates, Cranial ultrasound showed pathologic finding in 38(63.3%) cases. Hypoxic ischemic change was the commonest finding (68.4%), followed by raised parenchymal echotexture (23.7%), intracranial haemorrhage (2.6%), hydrocephalus (2.6%) and partial agenesis of corpus callosum (2.6%). Conclusion: Hypoxic ischemic change was the commonest pathologic finding of cranial ultrasonography. Northern International Medical College Journal Vol. 14 No. 1-2 July 2022-January 2023, Page 616-618

Effective and timely diagnosis represents a crucial component in the prevention and treatment of all neonatal diseases. It serves as the coordinating mechanism in the comprehensive management of newborns with meconium aspiration syndrome (MAS), a severe condition that may originate prenatally, progress rapidly, and result to potentially dangerous consequences manifesting both immediately postpartum and during later developmental stages. The MAS diagnostic process requires that obstetricians and neonatologists possess extensive knowledge and skills across multiple medical disciplines, encompassing an understanding of biochemical and cellular pathological processes, integrated comprehension of organ system function, and whole-body physiology, while accounting for gestational age at birth. Development of precise management strategies for neonates delivered through meconium-stained amniotic fluid relies on pregnancy monitoring data, ultrasound evaluation of fetal status, placental characteristics, amniotic fluid analysis, and cardiotocography results. Meconium aspiration syndrome arises from the aspiration of meconium-stained amniotic fluid occurring before, during, or immediately after delivery. Meconium functions as a noxious substance that rapidly injures immature and hypersensitive pulmonary tissue, initiating systemic pathological cascades. The release of cytokines, including tumor necrosis factor-alpha (TNF-α), interleukin (IL)-1β, IL-6, IL-8, and IL-13, triggers diffuse pneumonitis through airway and parenchymal irritation. Pneumonitis may develop within hours due to meconium-derived enzymes, bile salts, and free fatty acids. Quantification of TNF-α, IL-1β, IL-6, IL-8, and IL-13 provides diagnostic value for pneumonitis in MAS. Continuous monitoring of acid-base status and blood gas composition is essential for assessing MAS severity, as perinatal stress-induced metabolic acidosis combines with respiratory acidosis, while parenchymal injury is associated with persistent pulmonary hypertension of the newborn (PPHN). MAS disrupts homeostatic balance through hypoxia and metabolic stress, potentially resulting in electrolyte disturbances. Sodium, potassium, and calcium ions play essential roles in cardiac function, vascular tone regulation, and neuromuscular conduction. Hyponatremia may serve as an early indicator of the syndrome of inappropriate antidiuretic hormone secretion (SIADH), which is frequently observed in severe MAS cases due to hypoxic stress or pulmonary injury. In SIADH, hyponatremia arises from water retention, thereby increasing the risk of cerebral edema and seizures. Acute kidney injury may induce potassium imbalances, commonly manifesting as hyperkalemia, a potentially life-threatening condition, alongside elevated nitrogenous waste products and acid-base disturbances. Both hypokalemia and hyperkalemia can precipitate severe cardiac arrhythmias, while tissue hypoxia or renal impairment may exacerbate potassium release into the circulation. Neonatal hypocalcemia may further aggravate cardiovascular instability and respiratory dysfunction associated with MAS. In addition to the local effects of meconium on respiratory mucosa and pulmonary parenchyma, hypoxia and infection contribute significantly to the pathogenesis of MAS. Primary fetal oxygen deprivation triggers a stress response characterized by hypoxia-induced anal sphincter relaxation and enhanced intestinal peristalsis, resulting in meconium passage into the amniotic fluid. Concurrent hypoxia may provoke fetal gasping, a suffocation-like reflex, and respiratory spasms, facilitating aspiration of meconium into the airways prior to delivery. Early aspiration induces three principal pathophysiological mechanisms: mechanical airway obstruction, chemical pneumonitis with activation of inflammatory cascades, and surfactant dysfunction, collectively exacerbating neonatal hypoxia. Intrauterine infection, particularly chorioamnionitis, represents an independent risk factor for MAS development, substantially expanding the spectrum of required diagnostic parameters. Complete blood count analysis (CBC) remains an essential routine diagnostic modality in neonates. CBC parameters serve as early indicators of pathological alterations, enabling clinicians to assess the severity of MAS. Specifically, erythrocyte count, platelet levels, hematocrit, and neutrophil/granulocyte concentrations reflect oxygen-carrying capacity and the risk of neonatal hemorrhage, infection, and chronic hypoxia. Neurological examination allows detection of hypoxic brain injury, although optimal diagnostic yield requires prior patient stabilization. When clinically indicated, neuroimaging modalities, including magnetic resonance imaging (MRI), computed tomography (CT), or cranial ultrasonography, may provide additional diagnostic information. Chest radiography performs three essential diagnostic functions in meconium aspiration syndrome (MAS): confirmation of the diagnosis and evaluation of disease severity, identification of atelectasis and air leak syndromes, and verification of correct positioning of endotracheal tubes and umbilical catheters. In contemporary neonatology, lung ultrasound (LUS) has demonstrated diagnostic efficacy comparable to conventional radiography. Echocardiography is indispensable for the assessment of cardiac anatomy and function, particularly for evaluating the severity of pulmonary hypertension and the presence of right-to-left shunting. In neonates with MAS-associated respiratory failure, echocardiographic assessment during the “golden hour” is strongly recommended. This article emphasizes the imperative of systematic diagnostic approaches to MAS, which are fundamental for guiding acute management, preventing complications, and mitigating long-term sequelae.

Stickler syndrome (SS) is clinically and genetically heterogeneous. Autosomal recessive Stickler syndrome (ARSS) is characterized by sensorineural hearing loss, myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. It may also include midfacial hypoplasia, cleft palate, and skeletal manifestations. Currently, only 40 ARSS cases have been described, and just 4 are linked to pathogenic variants in the LOXL3 gene. A 20-year-old woman was referred to Medical Genetics due to Pierre Robin sequence, myopia, hearing loss, and distinct features. She was evaluated in early childhood with her sisters but was discharged without a specific genetic diagnosis. Polyhydramnios was detected in prenatal ultrasounds. Delivery occurred at 35 weeks. At birth, Pierre Robin sequence was evident, and she was admitted due to apnea. Complementary tests included karyotype, FISH 22q11, and screening for associated anomalies (cardiology, ophthalmology, ABR, and abdominal and cranial ultrasounds), all of which were normal. She had delayed speech development. She presents high myopia and bilateral conductive hearing loss, as well as nonspecific joint pain. She has two sisters with overlapping phenotypes. Both had cleft palate repair (one also with Pierre Robin sequence) and high-degree myopia. The first had a ventricular septal defect that spontaneously closed at age 5, and the second has conductive hearing loss. The physical examination highlights: microcephaly (head circumference < p1, -2.5 SD), downward-slanting palpebral fissures, midfacial and nasal ala hypoplasia, flat nasal bridge, elongated and flat philtrum, high-arched palate, absent uvula, joint hypermobility, shortening of third-fifth metacarpals and metatarsals, wide feet, and bilateral hallux valgus. Targeted sequencing of SS-associated genes revealed a likely pathogenic variant c.1735C>T and a variant of uncertain significance c.956G>A in the LOXL3 gene. Affected sisters carry both variants; both parents are healthy carriers. We report three new cases of SS due to previously undescribed biallelic variants in the LOXL3 gene. The clinical features are similar to those observed in other SS patients; however, digital anomalies and microcephaly have not been previously reported in patients with LOXL3 variants, thus expanding the phenotypic spectrum. This case highlights the importance of re-evaluating patients in light of ongoing advances in genetic diagnostics.

Objective: To analyze the value of bedside cranial ultrasonography in the early diagnosis of neonatal brain tissue injury in intrauterine distress. Methods: 128 neonates with suspected intrauterine distress admitted to the Yichang Central People’s Hospital from January 2023 to December 2024 were selected as study subjects based on the inclusion and exclusion criteria, and all subjects underwent bedside craniocerebral ultrasonography and MRI, and the results of MRI were used as the gold standard to divide the infants into the brain-injury group (n = 31) and the no-brain-injury The children were divided into brain injury group (n = 31) and no brain injury group (n = 97), and the value of bedside cranial ultrasonography for early diagnosis of brain tissue injury in neonates with intrauterine distress was analyzed. Results: (1) Among the 128 cases of intrauterine distress neonates, 31 cases were examined for abnormal signs, including 22 cases (70.97%) examined by bedside craniocerebral ultrasonography and 28 cases (90.32%) examined by MRI. (2) Bedside cranial ultrasound detected hypoxic-ischemic encephalopathy in 6 cases, accounting for 4.69%, ventricular widening in 2 cases, accounting for 1.56%, intracranial hemorrhage in 8 cases, accounting for 6.25%, periventricular softening of white matter in 5 cases, accounting for 3.91%, and cerebral edema in 1 case, accounting for 0.78%, while MRI detected hypoxic-ischemic encephalopathy in 9 cases, accounting for 7.03%. 3 cases of ventricular widening, accounting for 2.34%, 4 cases of intracranial hemorrhage, accounting for 3.13%, 9 cases of periventricular-intraventricular white matter softening, accounting for 7.03%, and 3 cases of cerebral edema, accounting for 2.34% were examined. Among them, the detection rate of periventricular-intraventricular hemorrhage by bedside cranial ultrasound was significantly higher than that of MRI (P &lt; 0.05). Conclusion: The diagnostic value of bedside cranial ultrasound in periventricular-intraventricular hemorrhage is high, but the diagnostic value is not as good as that of MRI in other brain tissue injuries, and clinically appropriate examination protocols can be selected according to the specific types of craniocerebral injuries.

Background: Fetal growth restriction (FGR) is a condition in which a fetus does not reach its full growth potential in utero. It is a significant contributor to perinatal morbidity and mortality. Cranial ultrasound (CU) is a non-invasive imaging technique used to assess brain structure and abnormalities in neonates, particularly affected by FGR or classified as small for gestational age (SGA). Aim was to determine the association between FGR and CU abnormalities (CUAs) in term neonates. Methods: It was a single centre, hospital-based, cross-sectional comparative observational study conducted in the level IIIA neonatal intensive care unit (NICU) of Shri Shishu Bhawan Hospital for Children and Newborn, Bilaspur, Chhattisgarh. A total of 194 neonates were selected for the study. Comparative analysis between the FGR and control groups was performed using chi-square tests for categorical variables and t-tests for continuous variables. Results: The present study observed a higher proportion of CUAs in term neonates with FGR (11.3%) compared to appropriate for gestational age (AGA) neonates 2.06% (p&gt;0.5). Periventricular leukomalacia (PVL) was more commonly observed among FGR neonates (14.3%) compared to AGA neonates 6.18% (p&gt;0.05). The trend suggests that FGR may predispose neonates to a higher risk of periventricular white matter damage, even at term gestation. Conclusions: FGR has a substantial impact on neonatal brain development and increases the risk of neurodevelopmental complications. Early detection through CU screening and long-term follow-up for neurodevelopmental assessment are essential to improve outcomes in this high-risk population.

Up-To-Date Ultrasound Imaging Assessment of Intracranial Disorders in Infants and Children: Practical Approach to Diagnosis.

This paper addresses the problem of detecting possible serious bacterial infection (pSBI) of infancy, i.e. a clinical presentation consistent with bacterial sepsis in newborn infants using cranial ultrasound (cUS) images. The captured image set for each patient enables multi-view imagery: coronal and sagittal, with geometric overlap. To exploit this geometric relation, we develop a new learning framework, called the intersection-guided Cross-view Local- and Image-level Fusion Network (CLIF-Net). Our technique employs two distinct convolutional neural network branches to extract features from coronal and sagittal images with newly developed multi-level fusion blocks. Specifically, we leverage the spatial position of these images to locate the intersecting region. We then identify and enhance the semantic features from this region across multiple levels using cross-attention modules, facilitating the acquisition of mutually beneficial and more representative features from both views. The final enhanced features from the two views are then integrated and projected through the image-level fusion layer, outputting pSBI and non-pSBI class probabilities. We contend that our method of exploiting multi-view cUS images enables a first of its kind, robust 3D representation tailored for pSBI detection. When evaluated on a dataset of 302 cUS scans from Mbale Regional Referral Hospital in Uganda, CLIF-Net demonstrates substantially enhanced performance, surpassing the prevailing state-of-the-art infection detection techniques.

Background: In premature neonates, intraventricular hemorrhage (IVH) is a significant cause of mortality and can lead to movement disorders, paralysis, and cognitive and learning disabilities. Objectives: The present study aimed to investigate the neurodevelopmental status of infants with a history of prematurity and neonatal IVH. Methods: This retrospective cohort study included 45 infants aged 6 to 36 months with a history of prematurity. Subjects diagnosed with neonatal IVH were evaluated using the Bayley Scales of Infant and Toddler Development (BSID-3) and compared with those without IVH. The neurodevelopmental status of premature infants was assessed based on the diagnosis of IVH, determined through medical history, physical examination, and cranial sonography. Results: A significant association was found between neonatal IVH and motor disorders, affecting both fine and gross motor skills, as well as receptive language disability (OR = 0.086, P = 0.031; OR = 0.093, P = 0.035; and OR = 0.067, P = 0.045, respectively). Maternal preeclampsia and neonatal thrombocytopenia were significantly associated with a diagnosis of IVH. Regression analysis indicated that fine motor disorder was associated with maternal preeclampsia (OR = 0.063, P = 0.041). Conclusions: Early screening and diagnosis of neurodevelopmental disorders in premature infants with IVH may improve prognosis. Identifying risk factors for IVH can aid in the prediction, prevention, and management of neurodevelopmental disorders.