This study aimed to evaluate general and condition-specific quality of life in esophageal atresia (EA) patients, identifying risk factors such as associated anomalies and chronic diseases, as well as examining their impact on life quality. Patients operated on for EA between 2004 and 2020 comprised the study population. Pediatric Quality of Life (PedsQOL 4.0) and the Esophageal Atresia Quality of Life (EA-QOL) questionnaires were administered to parents of 2-7 year old children as well as both patients aged 8-17 year and their parents. Results of the PedsQOL 4.0 scale were compared with 43 healthy children. The study included 66 patients (40 aged 2-7 years, 26 aged 8-17 years), with 45.5% females and 54.5% males. The mean age was 7±4.4 years. Quality of life measured by EA-QOL and PedsQOL 4.0 questionnaires showed no significant differences based on patient sex, gestational age or having an anastomotic stricture. In the 8-17 age group, EA patients demonstrated significantly higher emotional scale quality of life than the healthy group (p=0.001) according to parent and child PedsQOL 4.0 questionnaire scores. The better emotional functioning in the 8-17 age group supports their enhanced anxiety management. Sex, gestational age, or presence of an anastomotic stricture did not impact quality of life. While differences existed between patient age groups in the questionnaires administered, factors like anatomical EA type, repair mode, low birth weight, tracheomalacia, frequent lung infections, presence of associated vertebral, anorectal, cardiac, renal, limb anomalies and/or hydrocephalus (VACTERL-H), gastrostomy placement, and surgical interventions other than EA significantly influenced patients' quality of life. These findings may guide implementing measures to enhance quality of life in EA patients.

Congenital anomalies remain a significant global health challenge, affecting 6 %-8 % of newborns worldwide and contributing to high rates of infant mortality and disability. This case report presents a unique constellation of congenital malformations in a six-year-old male born to consanguineous parents with a family history of metabolic disorders, including maternal diabetes and paternal smoking-both known risk factors for birth defects. The patient exhibited a complex phenotype including rib agenesis, hydrocephalus, sacral agenesis, atrial septal defect, and severe lower limb deformities characterized by complete tibial absence on the right and a 180-degree rotational malalignment of the left tibia and fibula. These features partially overlap with known syndromes such as VACTERL association and Gollop-Wolfgang complex, but the presence of hydrocephalus and certain skeletal abnormalities suggest a previously unreported syndrome. A multidisciplinary surgical approach was employed, involving ventriculoperitoneal shunting for hydrocephalus, hernia repair, staged amputations on the right limb, and a novel rotationplasty procedure on the left limb to restore function and enable prosthetic fitting. Postoperative rehabilitation led to improved mobility, with the child achieving assisted ambulation. This case underscores the importance of early diagnosis, individualized surgical planning, and comprehensive rehabilitation in managing complex congenital disorders. Furthermore, it highlights the need for expanded genetic and phenotypic research to classify novel syndromes and optimize therapeutic strategies, especially in populations with high consanguinity rates and environmental risk exposures.

BackgroundVACTERL association is a mnemonically useful acronym for a condition characterized by the sporadic, non-random association of specific birth defects in multiple organ systems. Described in the early 1970s, it is typically defined by the presence of three or more of these congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistulas, renal anomalies, and limb abnormalities. In addition to these core components, patients may also have other congenital anomalies. VACTERL association does not involve neuro-cognitive impairment unless; associated with hydrocephalus, known as VACTERL-H syndrome. VACTERL with hydrocephalus is an extremely rare disorder that affects males and females' children equally.Case descriptionThis report describes the case of a preterm 32 weeks gestation, Asian, male infant who was diagnosed with VACTERL associated with hydrocephalus (VACTERL-H).ConclusionVACTERL syndrome cases are seen very rarely. The diagnosis of VACTERL-H syndrome is primarily based upon a complete physical examination and a few specialized tests to ascertain the features of the syndrome. The treatment of VACTERL-H is directed towards the specific symptoms that are apparent in each individual, which often vary greatly. This case highlights the challenges in managing VACTERL-H syndrome in preterm, who presented with the most serious features of VACTERL. Hence, early diagnosis and early interventions are needed to prevent morbidity and mortality.

To describe the association between prenatal imaging and neurodevelopmental outcomes of fetuses with rhombencephalosynapsis (RES). Thirty-four pregnancies complicated by RES were identified from our institutional databases based on US and/or MRI findings. Genetic testing results were gathered. In cases of termination of pregnancy, we studied the association between prenatal imaging and neuropathologic findings. For those who opted for expectant management, comprehensive developmental assessments and postnatal MRI imaging were evaluated. Over one third of fetuses in our cohort had complete RES. Common intracranial anomalies identified were mesencephalosynapsis, aqueduct stenosis and diencephalosynapsis. The degree of RES was not associated with the frequency of additional central nervous system anomalies. MRI had a good correlation with neuropathologic findings with regard to the degree of RES, aqueduct stenosis and mesencephalosynapsis. Postmortem autopsy showed that one third of our cases had VACTERL-H and almost all of those had complete RES. All liveborn neonates(n = 6) had aqueduct stenosis requiring ventriculoperitoneal shunting within days of delivery (median 5 days). While a large proportion of prenatally suspected complete RES were found to have partial RES on postnatal imaging, prenatal diagnosis of aqueduct stenosis remained unchanged. All children that were at least 2 years old (n = 3) had global developmental delay. Prenatal assessment of the RES severity is challenging and may be unreliable. Nevertheless, postnatal prognosis is poor for both complete and partial RES. Associated aqueductal stenosis, can be reliably assessed prenatally and this may contribute to worse postnatal prognosis than the degree of RES.

Endoscopic third ventriculocysternostomy (ETV) is a minimally invasive neurosurgical technique with good results in the treatment of obstructive hydrocephalus. The VACTERL (vertebrae, anorectal, cardiovascular, tracheal, esophageal, renal, limb defects) association, or VATER syndrome, is defined as congenital malformations, mostly derived from the mesoderm, affecting specific areas. It is diagnosed by the presence of at least three of the seven characteristic malformations that describe it. The association of this pathology and obstructive hydrocephalus in pediatric age is not common, making management and conventional neurosurgical procedures difficult due to the number of underlying pathologies. In this study, we report the management of hydrocephalus and VACTERL association with multiple congenital malformations in a 30-day-old premature neonate (birth at 29 weeks). Operations performed prior to admission to our service included: coloesophagoplasty and placement of esophagostoma in the left anterior cervical region, perineal anorectoplasty, gastrostomy and placement of sigmoidostomy in the left anterior abdominal wall, relaparotomy, gastric suture, sanitation, and abdominal drainage. Upon admission, the patient showed a Grade 3 intraventricular hemorrhage and internal occlusive hydrocephalus due to circulatory blockage of the cerebrospinal fluid (CSF) at the level of the outlet of the fourth ventricle. This was accompanied by intracranial hypertension and refractory cervical syringomyelia. We performed endoscopic ventriculocysternostomy plus plexusectomy plus Magendie foraminoplasty with craniovertebral shunt placement, achieving excellent results after two interventions. This is the first case described in the literature placing a craniovertebral shunt using a lateral-ventricle-to-the-subarachnoid-spinal-space-stenting technique in a patient with VACTERL association, which represents an innovation in the field of minimally invasive pediatric neurosurgery.