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.

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.

In pregnant women who have been exposed to tuberculosis (TB), primary isoniazid prophylaxis is only recommended in cases of immunosuppression, chronic medical conditions or obstetric risk factors, and close and sustained contact with a patient with infectious TB. Isoniazid prophylaxis for latent tuberculosis infection (LTBI) is recommended in women who have close contact with an infectious TB patient or have risk factors for progression to active disease. Otherwise, it should be delayed until at least three weeks after delivery. Treatment of TB disease during pregnancy is the same as for the general adult population. Infants born to mothers with disseminated or extrapulmonary TB in pregnancy, with active TB at delivery, or with postnatal exposure to TB, should undergo a complete diagnostic evaluation. Primary isoniazid prophylaxis for at least 12 weeks is recommended for those with negative diagnostic tests and no evidence of disease. Repeated negative diagnostic tests are mandatory before interrupting prophylaxis. Isoniazid for 9 months is recommended in LTBI. Treatment of neonatal TB disease is similar to that of older children, but should be maintained for at least 9 months. Respiratory isolation is recommended in congenital TB, and in postnatal TB with positive gastric or bronchial aspirate acid-fast smears. Separation of mother and infant is only necessary when the mother has received treatment for less than 2 weeks, is sputum smear-positive, or has drug-resistant TB. Breastfeeding is not contraindicated, and in case of mother-infant separation expressed breast milk feeding is recommended.

Tuberculosis (TB) screening in pregnancy using tuberculin skin test (TST) is recommended in case of symptoms of TB disease, close contact with a patient with infectious TB, or high risk of developing active disease. The new interferon gamma release assay (IGRA) tests are recommended in BCG-vaccinated pregnant women with positive TST and no known risk factors for TB, and in those immunocompromised, with clinical suspicion of TB but negative TST. TB diagnosis is difficult due to the non-specific symptoms, the increased frequency of extrapulmonary disease, the delay in radiological examinations, and the high rate of tuberculin anergy. Neonatal TB can be acquired in utero (congenital TB), or through airborne transmission after delivery (postnatal TB). Congenital TB is extremely rare and does not cause fetal malformations. It may be evident at birth, although it usually presents after the second week of life. In newborns with no family history of TB, the disease should be considered in cases of miliary pneumonia, hepatosplenomegaly with focal lesions, or lymphocytic meningitis with hypoglycorrhachia, especially in those born to immigrants from high TB-burden countries. TST is usually negative, and IGRAs have lower sensitivity than in older children. However, the yield of acid-fast smear and culture is higher, mostly in congenital TB. Molecular diagnosis techniques enable early diagnosis and detection of drug resistance mutations. There is a substantial risk of disseminated disease and death.

BACKGROUND: Tufted angioma (TA) is a rare benign vascular tumor that mostly appears during infancy or early childhood, although there are cases reported in adults. Clinical presentation and evolution of TA can vary. Histologically, it takes on a classic appearance of vascular tufts (\"cannon ball\" like appearance).
METHODS: A retrospective observational study was conducted that included all patients diagnosed with TA at our center in the last 20 years.
RESULTS: A series of 9 cases of tufted angioma in childhood are presented, 77.7% of which were congenital. This represents a frequency higher than previously described. Spontaneous regression was observed in 55.5% of the cases, and was more frequent in the congenital TA group. Unlike other TA series reported in the literature, a higher proportion of patients with spontaneous regression was observed in this series, with a higher prevalence in females (6 out of 9 children) and predominantly located in the upper limbs. None of our patients had Kasabach-Merritt phenomenon.
CONCLUSIONS: There are many ways of treating TA, but none are uniformly effective. Given the high rate of spontaneous regression in congenital or early TA, we suggest that, in the absence of other complications, monitoring would be a good option for management.