Spontaneous regression of an epidermoid cyst in a pediatric patient-Case report and review of the literature.

Epidermoid cysts are infrequent, benign, slow-growing, space-occupying lesions that account for 0.5-1.8% of primary intracranial tumors. We report the case of a 17-month-old child who presented in 2015 for one episode of pallor associated with hypotonia. Epilepsy was excluded and MRI was recommended. The MRI was performed and there were no focal parenchymal lesions, but it showed an extra-axial ovoid lesion with imaging characteristics consistent with epidermoid cyst. Follow-up MRI at one year was performed and it showed minimal increased in dimensions of the cyst, without changes into the signal of the lesion. Another MRI was performed 7 years after and it showed complete resolution of the cyst. Six months afterwards, another MRI was performed and it confirmed the complete regression of the cyst, without any extra-axial masses reported. The patient did not present any neurological anomalies. No follow-up MRI was recommended afterwards. Spontaneous regression of epidermoid cyst in pediatric population is an extremely rare event, but it should be taken into account when the patient shows no symptoms. This is the third case of spontaneous regression of an epidermoid cyst reported in pediatric patients, and the first one in the temporal region. Careful follow-up and watchful waiting could be an option to surgical treatment in epidermoid cysts.

Prenatal Ultrasound Diagnosis of Double Aortic Arch versus Right Aortic Arch Variant in Vascular Ring Formation - Case Report and Review of the Literature.

Double aortic arch represents a congenital vascular malformation that is characterized by the development of a complete vascular ring around the esophagus and trachea due to an anomaly in the development of branchial arteries. We present the case of a 31-year-old gravida that was referred for fetal ultrasound anomalies screening at 22 weeks and six days of gestation. Routine ultrasound scanning of the fetus revealed a structural aortic arch anomaly consistent with a double aortic arch, with no other cardiac and diextracardiac congenital structural malformations. Knowledge of embryology and imaging spectrum of aortic arch anomalies that are able to form vascular rings around the trachea and esophagus are essential for an accurate antenatal diagnosis and therefore, for a correct clinical management.

VACTERL association in a fetus with multiple congenital malformations - Case report.

VACTERL represents an acronym for a broad spectrum of congenital anomalies such as vertebral anomalies, anorectal anomalies (anal atresia), cardiac anomalies, tracheoesophageal fistula or atresia, renal anomalies, and limb anomalies. We present the case of a male fetus with multiple anomalies consistent with VACTERL association such as scoliosis, imperforate anus, common truncus arteriosus, tracheoesophageal fistula associated with inferior esophagus atresia, polycystic kidneys, with short right ureter, lower limb hypoplasia micrognathia, hygroma, duodenal atresia, and cloacal malformation, with an aberrant omphalomesenteric duct. The presented case highlights the crucial importance of pathologists specialized in the dissection and confirmation of fetal abnormalities as an essential part of the multidisciplinary team that establishes the management of complicated pregnancies with this type of pathology.

The etiopathogenic and morphological spectrum of anencephaly: a comprehensive review of literature.

Anencephaly is a severe malformation of the central nervous system (CNS), being one of the most common types of neural tube defects. It is defined as total or partial absence of the calvarium, with absence of the brain. Anencephaly has an incidence of 1 to 5 in every 1000 births, and the mortality rate is 100% during intrauterine life or within hours or days after birth. The etiology of anencephaly remains unclear, but various maternal-related environmental and genetic risk factors have been reported, which include diabetes, obesity, exposure to different drugs or toxins, genetic polymorphisms and mutations, as well as positive family history for neural tube defects. One of the most important nutritional factors in the development of anencephaly is folate deficiency. Methylenetetrahydrofolate reductase (MTHFR) gene codes the enzyme involved in the intracellular metabolism of folic acid; the 677C-T polymorphism of this gene causes the thermolability of the enzyme and decreased enzymatic activity, which is also dependent of folate plasmatic level. Etiopathogenesis of anencephaly includes several mutations in various other genes, such as: platelet-derived growth factor receptor alpha (PDGFRA), cadherin epidermal growth factor (EGF) laminin G (LAG) seven-pass G-type receptor 1 (CELSR1), Vang-like 1 (VANGL1) and Vang-like 2 (VANGL2), the last two being involved in the process of neurulation. Screening tests include maternal serum alpha-fetoprotein level and ultrasound (US) examination. During the first trimester US screening, anencephaly is now detected in all cases, but in order to decrease the complication rate of pregnancy termination, the diagnosis should be established as soon as possible, during the pregnancy confirmation US. We conclude that given that anencephaly is a severe malformation of the CNS, morphological characterization could improve the screening by US that is mandatory in the first trimester in order to plan the best, safe and early management.