Background and objectives: Outcomes of neonates diagnosed with esophageal atresia (EA), a rare congenital malformation, vary widely. Due to limited and fragmented data globally, major regional centers offer a crucial opportunity to better understand EA’s epidemiology and the management. This study aimed to address these gaps by determining total birth prevalence and early treatment outcomes of EA in southern Croatia. Methods: All EA cases (1991–2020) were retrospectively ascertained from medical documentation at the only tertiary referral center for EA in southern Croatia, with birth data collected from the entire background population. We collected data on neonates’ status and diagnosis, operative findings, early postoperative complications, and treatment outcome from this single center. Results: A total of 53 cases were identified, with an average total birth prevalence of 2.44 per 10,000 total births/year. No significant sex differences were found (p = 0.339), and most cases were complex Vogt 3B. The mortality rate dropped from 87 to 8% over a 30-year period (p < 0.001). The 1-year survival rate was 54% (95% CI 40–68%) for liveborns and 64% (50–79%) for liveborns who underwent surgery and intensive care. However, 16% of patients died before surgery due to hemodynamic instability, and among those operated on, high sepsis, pneumonia, and atelectasis rates were observed. Conclusions: EA prevalence in southern Croatia aligns with European data. Survival improved significantly after 2002, coinciding with a dedicated pediatric ICU and enhanced pediatric care training. Further advancements in early diagnosis and a multidisciplinary approach are needed to further reduce mortality. Strengthened postoperative infection control and optimized postoperative respiratory support are also crucial to minimizing complications.

Tubulinopathies are associated with malformations of cortical development but not Walker–Warburg Syndrome. Intensive monitoring of a Croatian infant presenting as Walker–Warburg Syndrome in utero began at 21 weeks due to increased growth of cerebral ventricles and foetal biparietal diameter. Monitoring continued until Caesarean delivery at 34 weeks where the infant was eutrophic. Clinical assessment of a progressive neurological disorder of unknown aetiology found a macrocephalic head and markedly hypoplastic genitalia with a micropenis. Neurological examination showed generalized hypotonia with very rare spontaneous movements, hypotonia-induced respiratory insufficiency and ventilator dependence, and generalized myoclonus intensifying during manipulation. With clinical features of hypotonia, lissencephaly, and brain malformations, Walker–Warburg Syndrome was suspected; however, eye anomalies were absent. Genetic trio analysis via whole-exome sequencing only identified a novel de novo mutation in the TUBA1A gene (NM_006009.4:c.848A>G; NP_006000.2:p.His283Arg) in the infant, who died at 2 months of age, as the likely cause. We report a previously unpublished, very rare heterozygous TUBA1A mutation with clinical features of macrocephaly and hypoplastic genitalia which have not previously been associated with the gene. The absence of eye phenotypes or mutations in Walker–Warburg-associated genes confirm this as not a new presentation of Walker–Warburg Syndrome but a novel TUBA1A tubulinopathy for neonatologists to be aware of.

Background: Preterm infants are vulnerable to brain injury because of immature white matter, vascular regulation, and neuroprotective mechanisms. White matter injury (WMI), formerly known as periventricular leukomalacia, is a major cause of cerebral palsy and neurocognitive impairment, while perinatal stroke is an important cerebrovascular cause of adverse outcomes. White matter injury: WMI is linked to hypoxia–ischemia, inflammation or infection, oxidative stress, and impaired oligodendrocyte maturation. It may be cystic or diffuse non-cystic, which is now the most common phenotype. Cystic lesions are strongly associated with motor impairment and spastic cerebral palsy, whereas diffuse injury is increasingly related to cognitive, behavioral, and language deficits. Diagnosis relies on cranial ultrasonography and MRI; prevention focuses on optimized perinatal care, infection control, respiratory stabilization, and neuroprotection. Perinatal stroke: Stroke in preterm infants may occur antenatally or neonatally and includes periventricular hemorrhagic infarction, perinatal arterial ischemic stroke, and cerebral sinovenous thrombosis. Periventricular hemorrhagic infarction is the most common subtype and is often associated with germinal matrix hemorrhage–intraventricular hemorrhage. Risk factors are multifactorial, including fetal, neonatal, placental, thrombotic, infectious, and hemodynamic contributors. Clinical signs may be subtle, making neuroimaging central to classification and prognosis. Conclusion: Despite advances in neonatal care, WMI and perinatal stroke remain major causes of long-term neurological morbidity in preterm infants. Early recognition, systematic neuroimaging, risk stratification, and multidisciplinary follow-up are essential. Future research should identify reliable biomarkers and targeted neuroprotective therapies.