Diagnóstico prenatal de iniencefalia. Reporte de caso.

Iniencephaly is an infrequent and fatal neural tube defect that affects the occiput and neck, this occurs together with the widening of the foramen magnum, rachischisis and marked retro-flexion of the head. This entity belongs to the group of defects of neural tube closure. About 200 reports have been published in the literature. A diagnosis can be made using an ultrasound morphology test that is easy to perform due to the characteristic findings of the condition. Associated anomalies of the nervous system and other systems are frequently present during the ultrasound evaluation. Prenatal diagnosis of a neural tube defect that involves occipital defects and spinal and thoracic spine rachischisis accompanied by retro-flexion of the head should raise the diagnostic suspicion of iniencephaly. The prognosis is particularly bad with only a few cases of survival. Keywords: Iniencefalia, Neural tube defect, Prenatal diagnosis.

Atypical Presentation of Frontoethmoidal Encephaloceles in a Child - A Case Report

Encephalocele is a form of neural tube defect affecting many children, more common in the occipital regions. The frontoethmoidal encephaloceles (FEE) are rare and the aetiology is unclear since it varies genetically and is linked to multiple reasons. The child with FEE mainly presents with swelling over the bridge of the nose or inner canthus of an eye since birth, with varying degrees of hypertelorism. Here we report a child who has facial asymmetry with FEE. Encephalocele is a defect in the calvarium that causes the cranial contents to protrude outside the natural limits of the skull. It can have meninges (meningocele), brain matter and meninges (meningoencephalocele), or communication with the ventricles. Suwanwela and Suwanwela defined encephaloceles based on the location and form of skull defect as occipital encephaloceles, cranial vault encephaloceles, frontoethmoidal encephaloceles, and basal encephaloceles. The internal skull defect in frontoethmoidal encephalocele (FEE) is in the midline, but the external skull defect may vary in the facial bony structure. 1–3 It is also classified into three subtypes: nasofrontal (NF), naso-ethmoidal (NE), and naso-orbital (NO). These swellings are classified as sessile or pedunculated, and their palpability ranges from robust and rigid to soft and cystic. We present a case of an infant with frontoethmoidal encephaloceles as well as a facial deformity.

Folate Receptor Alpha Autoantibodies in Autism Spectrum Disorders: Diagnosis, Treatment and Prevention

Folate deficiency and folate receptor autoimmune disorder are major contributors to infertility, pregnancy related complications and abnormal fetal development including structural and functional abnormalities of the brain. Food fortification and prenatal folic acid supplementation has reduced the incidence of neural tube defect (NTD) pregnancies but is unlikely to prevent pregnancy-related complications in the presence of folate receptor autoantibodies (FRAb). In pregnancy, these autoantibodies can block folate transport to the fetus and in young children, folate transport to the brain. These antibodies are prevalent in neural tube defect pregnancies and in developmental disorders such as cerebral folate deficiency (CFD) syndrome and autism spectrum disorder (ASD). In the latter conditions, folinic acid treatment has shown clinical improvement in some of the core ASD deficits. Early testing for folate receptor autoantibodies and intervention is likely to result in a positive outcome. This review discusses the first identification of FRAb in women with a history of neural tube defect pregnancy and FRAb’s association with sub-fertility and preterm birth. Autoantibodies against folate receptor alpha (FRα) are present in about 70% of the children with a diagnosis of ASD, and a significant number of these children respond to oral folinic acid with overall improvements in speech, language and social interaction. The diagnosis of folate receptor autoimmune disorder by measuring autoantibodies against FRα in the serum provides a marker with the potential for treatment and perhaps preventing the pathologic consequences of folate receptor autoimmune disorder.

Intracranial subdural hemorrhage following closed neural tube defect repair: illustrative case

BACKGROUND Intracranial subdural hematomas (SDHs) due to intracranial hypotension after pediatric spine surgeries are an uncommon pathology. Such findings have typically been associated with intraoperative durotomies that are complicated by a subsequent cerebrospinal fluid (CSF) leak. OBSERVATIONS The patient is a 17-year-old boy with a complex past medical history who received an uncomplicated S1–2 laminectomy for repair of his closed neural tube defect (CNTD), cord untethering, and resection of a lipomatous malformation. He returned to the hospital with consistent headaches and a 2-day history of intermittent left-sided weakness. Imaging demonstrated multiple subdural collections without a surgical site pseudomeningocele. LESSONS The case was unique because there have been no documented cases of acute intracranial SDH after CNTD repair. There was no CSF leak, and spine imaging did not demonstrate any evidence of pseudomeningocele. The authors believed that intraoperative CSF loss may have created enough volume depletion to cause tearing of bridging veins. In younger adolescents, it is possible that an even smaller volume may cause similar effects. Additionally, the authors’ case involved resection of the lipomatous malformation and an expansile duraplasty. Hypothetically, both can increase the lumbar cisternal compartment, which can collect a larger amount of CSF with gravity, despite no pseudomeningocele being present.

PERSISTENT EMBRYONIC FALCINE SINUS PRESENTING AS ATRETIC PARIETAL CEPHALOCELE: CASE REPORT

Cephaloceles are congenital neural tube defect causing herniations of intracranial structures (dura, brous tissue and dysplastic brain tissue) through a skull defect. Frequently associated with other intracranial anomalies like grey matter heterotopia, Vein of Galen malformations, Ventriculomegaly, Walker–Warburg syndrome, lobar holoprosencephaly, Dandy–Walker syndrome, hypogenesis of the corpus callosum, interhemispheric cysts, microphthalmia, and retro-ocular cysts.We are presenting a rare case of persistent embryonic sinus presenting with parietal cephalocele.