BACKGROUND: Understanding the variations of abdominal vascular structures is important for preventing complications of abdominal surgical procedures for gastrointestinal disease such as necrotizing enterocolitis or others that may arise in patients with congenital cardiac disease. We analysed the coeliac trunk and its branches in children with congenital heart disease to determine whether there is a greater prevalence of associated vascular abnormalities.
METHODS: We retrospectively analysed thoracic computed tomography (CT) angiograms performed in our hospital in paediatric patients with congenital heart disease. We documented the anatomical variations observed in abdominal sections in which the coeliac trunk and hepatic arteries were included in the field of view. We used the Uflacker classification to describe anatomical variants of the coeliac trunk, and the Michels classification and its modified version (Hiatt classification) to describe the anatomy of the hepatic artery system.
RESULTS: Our study included 178 patients with congenital heart disease. We identified coeliac trunk variants in 10.7% of the patients. Gastrosplenic trunk was to the most prevalent variant, amounting to 5.6% of total cases. We found hepatic artery variations in 19.1% of the patients. According to the Michels classification, the prevalence of accessory left hepatic artery arising from the left gastric artery as 4.5%, compared to 6.7% based on the Hiatt classification.
CONCLUSIONS: The prevalence of coeliac trunk and hepatic artery variations in patients with congenital heart disease was not greater in our study compared to other series in the literature. Clinicians must be vigilant about the variations detected in multislice CT scans to avoid complications resulting from vascular abnormalities, especially in patients who undergo abdominal surgery.

Nail disorders in newborns can show independently or as components of systemic illnesses or genodermatoses. The examination of these abnormalities is complex and sometimes challenging. However, familiarity with these disorders can significantly contribute to uncovering potential underlying conditions. This review includes the physiological nail changes seen within the first few months of life, such as Beau\'s lines, onychoschizia, koilonychia, congenital nail fold hypertrophy of the first digit, and onychocryptosis. This review also focuses on the most relevant congenital disorders reported and how to perform differential diagnosis. Finally, this review highlights those hereditary diseases in which nail involvement is crucial for diagnosis, such as nail-patella syndrome, congenital pachyonychia, or congenital dyskeratosis, among others.

Nail disorders in newborns can show independently or as components of systemic illnesses or genodermatoses. The examination of these abnormalities is complex and sometimes challenging. However, familiarity with these disorders can significantly contribute to uncovering potential underlying conditions. This review includes the physiological nail changes seen within the first few months of life, such as Beau\'s lines, onychoschizia, koilonychia, congenital nail fold hypertrophy of the first digit, and onychocryptosis. This review also focuses on the most relevant congenital disorders reported and how to perform differential diagnosis. Finally, this review highlights those hereditary diseases in which nail involvement is crucial for diagnosis, such as nail-patella syndrome, congenital pachyonychia, or congenital dyskeratosis, among others.

The clinical presentation of enteric duplication cysts is dependent on the location of the cyst with symptoms varying from nausea and vomiting to abdominal distension, pain and perforation. Four patients were identified who were diagnosed with enteric duplication cysts within the period from 2019 to 2023. Three of the patients presented with signs of intestinal obstruction-abdominal distension and pain, while one had an antenatally detected abdominal mass. There were three boys and one girl with ages ranging from 4 months to 14 years. Three cases of ileal and one case of caecal duplication cyst were reported. Most of the cases showed ileal/caecal mucosa while one case demonstrated ectopic gastric mucosa. The treatment of these cysts includes surgical excision. Although radiological investigations help in arriving at a provisional diagnosis, the final diagnosis can be confirmed only after histopathological examination. Early treatment prevents complications and results in a good prognosis for the patient.

BACKGROUND: Congenital cytomegalovirus (CMV) infection is an important cause of disability. There is little evidence on the prognostic value of lesions identified in neuroimaging studies.
OBJECTIVE: The study aimed to assess the severity of lesions detected with brain MRI and transfontanellar ultrasound and their relationship with long-term neurological deficits.
METHODS: We performed a retrospective, analytical, observational study of 36 patients with congenital CMV infection. Neuroimaging studies were reviewed and classified according to the modified Noyola\' scale. Imaging findings were compared with neurological alterations in the patients\' most recent follow-up evaluation at the paediatric neurology department.
RESULTS: Thirty-six patients were studied (transfontanellar ultrasound: 30; brain MRI: 29). Twenty of 30 patients showed ultrasound abnormalities; of these, 11 showed alterations on brain MR images (P = .04) and 10 had neurological impairment (P = .008). Transfontanellar ultrasound had a sensitivity of 83.3%, 90% CI: 58-100 and a specificity of 44.4%, 90% CI: 18.7-70.2 for predicting neurological sequelae. Brain MRI displayed abnormalities in 20 of 29 patients, of whom 16 had neurological impairment (P < .001). MRI had a sensitivity of 94%, 95% CI: 80-100 and a specificity of 66.6%, 95% CI: 36-97.5 for predicting neurological sequelae. Modified Noyola\' scale values > 2 were correlated with psychomotor retardation (P < .001).
CONCLUSIONS: Our findings validate previous studies reporting a statistical significant correlation between the extension of neuroimaging lesions and severity of neurological deficits.

BACKGROUND: Horner syndrome (HS) is characterised by the triad of upper eyelid ptosis, miosis, and facial anhidrosis. Due to its wide variety of causes, it can occur at any age, and is uncommon in paediatrics. The aetiology and diagnostic approach of paediatric HS (PHS) is controversial.
OBJECTIVE: The purpose of this study is to describe the clinical characteristics of a 14 case series, focusing on the aetiology of HS and the clinical evolution the patients presented.
METHODS: A retrospective observational study was conducted on patients under 14 years-old (enrolled between 1st January 2009 and 30th April 2020). Depending on the age at diagnosis (before or after the first 5 months of life), the study cases were divided into two groups: congenital or acquired.
RESULTS: Fourteen patients, with a mean age of 8.5 months, were enrolled. The most frequent cause of PHS were tumours (6/14), with the most representative neoplasm being neuroblastoma (4/14). Of the acquired cases (8/14), the most frequent cause was iatrogenic (5/8), mainly secondary to cervical or thoracic surgery. The main origin of congenital HS (6/14) was neuroblastoma (4/6), being the first manifestation of the disease in 50% of patients (2/4).
CONCLUSIONS: HS may be the first sign of a major underlying disease, such as neuroblastoma. For this reason, children presenting with HS of unknown origin require imaging studies to exclude a life threatening disease. A thorough examination is essential for early diagnosis of these patients.

Giant congenital melanocytic nevi (GCMN) are melanocytic lesions secondary to the abnormal migration of melanoblasts during the embryogenesis, affecting approximately one in 20,000 live births. They are usually present since birth and are distinguished by changing their morphological characteristics within time, and increasing their size parallel to the growth of the child, reaching a diameter ≥ 20 cm in adulthood. The importance of the GCMN lies in the complications associated to them; mainly the development of melanoma or neurocutaneous melanosis, in addition to the psychological or social impact that generates in most of the cases. Therefore, individuals with GCMN will require a multidisciplinary long-term follow-up. Currently, the management of children with GCMN is still controversial since there is no treatment of choice. Consequently, the treatment must be individualized according to the characteristics of the nevus and the specific needs of each patient.
Los nevos melanocíticos congénitos gigantes (NMCG) son lesiones melanocíticas secundarias a la migración anormal de los melanoblastos durante la embriogénesis. Afectan aproximadamente a 1 de cada 20,000 nacidos vivos y suelen estar presentes desde el nacimiento. Estas lesiones se distinguen porque cambian sus características morfológicas con el tiempo y aumentan su tamaño de forma paralela al crecimiento del niño, alcanzando un diámetro ≥ 20 cm en la edad adulta. La importancia de los NMCG radica en las complicaciones a las que se encuentran asociados, principalmente al desarrollo de melanoma o melanosis neurocutánea, además del impacto psicológico y social que generan en la mayoría de los casos, por lo que quienes los padecen requerirán de un seguimiento multidisciplinario a largo plazo. Actualmente, el manejo de los niños con NMCG continúa siendo controversial, ya que no existe un tratamiento de elección, por lo que este deberá ser individualizado de acuerdo con las características del nevo y las necesidades específicas de cada paciente.

BACKGROUND: Congenital cytomegalovirus (CMV) infection is an important cause of disability. There is little evidence on the prognostic value of lesions identified in neuroimaging studies.
OBJECTIVE: The study aimed to assess the severity of lesions detected with brain MRI and transfontanellar ultrasound and their relationship with long-term neurological deficits.
METHODS: We performed a retrospective, analytical, observational study of 36 patients with congenital CMV infection. Neuroimaging studies were reviewed and classified according to the modified Noyola\' scale. Imaging findings were compared with neurological alterations in the patients\' most recent follow-up evaluation at the paediatric neurology department.
RESULTS: Thirty-six patients were studied (transfontanellar ultrasound: 30; brain MRI: 29). Twenty of 30 patients showed ultrasound abnormalities; of these, 11 showed alterations on brain MR images (P=.04) and 10 had neurological impairment (P=.008). Transfontanellar ultrasound had a sensitivity of 83.3%, 90% CI: 58-100 and a specificity of 44.4%, 90% CI: 18.7-70.2 for predicting neurological sequelae. Brain MRI displayed abnormalities in 20 of 29 patients, of whom 16 had neurological impairment (P<.001). MRI had a sensitivity of 94%, 95% CI: 80-100 and a specificity of 66.6%, 95% CI: 36-97.5 for predicting neurological sequelae. Modified Noyola\' scale values >2 were correlated with psychomotor retardation (P<.001).
CONCLUSIONS: Our findings validate previous studies reporting a statistical significant correlation between the extension of neuroimaging lesions and severity of neurological deficits.

OBJECTIVE: To update the current knowledge about congenital optic disc anomalies.
METHODS: A comprehensive literature search was performed in the major biomedical databases.
RESULTS: Patients with these anomalies usually have poor vision in infancy. Refractive errors are common, and serous retinal detachment may develop in some of these anomalies. It is critically important to clinically differentiate between these congenital optic disc anomalies, as central nervous system malformations are common in some, whereas others may be associated with systemic anomalies.
CONCLUSIONS: Congenital optic disc anomalies are a heterogeneous group of pathologies with characteristic fundus appearance and systemic associations. We should always try to make a correct diagnosis, in order to ask for specific tests, as well as to provide an adequate follow-up.

In this article, we consider tumors that are diagnosed during pregnancy or in the first three months of life. This is a heterogeneous group of neoplasms with special biological and epidemiological characteristics that differentiate them from tumors arising in children or adults. In the last two decades, the prenatal detection of congenital tumors has increased due to the generalized use of prenatal sonographic screening. Advances in imaging techniques, especially in fetal magnetic resonance imaging, have enabled improvements in the diagnosis, follow-up, clinical management, and perinatal treatment of these tumors. This image-based review of the most common congenital tumors describes their histologic types, locations, and characteristics on the different imaging techniques used.