Choroid Plexus Cyst in a Neonatal Burmeister's Porpoise (Phocoena spinipinnis)

Neuroectodermal developmental anomalies are reported rarely in cetaceans and central nervous system cysts are not described. We describe the gross, microscopical, histochemical and immunohistochemical features of a neuraxial myelencephalic cyst in a stranded neonatal Burmeister's porpoise (Phocoena spinipinnis). Grossly, a subdural, extra-axial, well-demarcated, yellow fluid-filled cystic structure (1.9 × 1.6 × 1 cm) expanded the left foramen of Luschka, the left caudolateral cerebellar recess and the left cranioventral myelencephalon. The cyst displaced the ipsilateral ventral paraflocculus and distended the underlying cranial nerves IX, X, XI and XII. Microscopically, the cystic structure was lined by a monolayer of low cuboidal to flattened epithelium supported by a thin fibrovascular matrix. Immunohistochemistry (IHC) revealed strong and diffuse expression of AE1/AE3 and focal positivity for vimentin. IHC for epithelial membrane antigen, glial fibrillary acid protein, synaptophysin and S100 was negative. Based on these findings, an extra-axial cyst of the choroid plexus of the fourth ventricle (CCPFV) was diagnosed. The pathological relevance of the CCPFV in this case is uncertain. The cause of death involved severe perinatal interspecific (shark) trauma. The present case provides the first evidence of a neuroepithelial cyst in cetacean species.

anomalias de desenvolvimento neuroectodérmicas são raramente relatadas em cetáceos e cistos do sistema nervoso central não são descritos. Descrevemos as características macroscópicas, microscópicas, histoquímicas e imuno-histoquímicas de um cisto mielencefálico neuroaxial em uma toninha de Burmeister neonatal encalhada (Phocoena spinipinnis). Grosso modo, uma estrutura cística amarela subdural, extra-axial, bem demarcada e cheia de líquido (1,9 × 1,6 × 1 cm) expandiu o forame esquerdo de Luschka, o recesso cerebelar caudolateral esquerdo e o mielencéfalo cranioventral esquerdo. O cisto deslocou o paraflóculo ventral ipsilateral e distendeu os nervos cranianos subjacentes IX, X, XI e XII. Microscopicamente, a estrutura cística foi revestida por uma monocamada de epitélio cubóide a achatado baixo, suportada por uma fina matriz fibrovascular. A imuno-histoquímica (IHC) revelou forte e difusa expressão de AE1 / AE3 e positividade focal para vimentina. O IHC para antígeno da membrana epitelial, proteína do ácido fibrilar glial, sinafofisina e S100 foi negativo. Com base nesses achados, foi diagnosticado um cisto extra-axial do plexo coróide do quarto ventrículo (CCPFV). A relevância patológica do CCPFV neste caso é incerta. A causa da morte envolveu traumatismo interespecífico (tubarão) perinatal grave. O presente caso fornece a primeira evidência de um cisto neuroepitelial em espécies de cetáceos. patologia cetáceo Anomalia congenita neuroectoderma

First trimester screening for holoprosencephaly with choroid plexus morphology ('butterfly' sign) and biparietal diameter.

OBJECTIVE: The aim of this study was to determine whether choroid plexus morphology ('butterfly' sign) and biparietal diameter (BPD) are effective sonographic screening tools for holoprosencephaly (HPE) in the first trimester. METHODS: An axial view of the fetal head was obtained routinely to determine the presence of the 'butterfly' sign in pregnancies presenting for sonographic screening at 11-13 weeks of gestation. The same view was also used to obtain BPD measurements. The definitive diagnosis of HPE was established by the sonographic demonstration of an anterior cerebral monoventricular cavity and thalamic fusion. RESULTS: During a 9-year study period, 11 068 live fetuses were screened. There were 11 cases of HPE (prevalence 1/1006); all of them were detected by demonstration of an absent 'butterfly' sign with no false-positive cases. The BPD was less than the 5th percentile in 40% of the cases. CONCLUSIONS: The 'butterfly' sign appears to be a highly sensitive marker for HPE in the first trimester. On the other hand, BPD measurements had a lower sensitivity, implying that microcephaly is not a prominent first-trimester feature in these cases. Incorporation of the 'butterfly' sign into the first trimester anatomy scan is simple and can facilitate the identification of the vast majority of fetuses with HPE in the first trimester.

Quiste del plexo toroide: reporte de tres casos / Torus plexus cyst: report of three cases

Una gran variedad de lesiones con efecto de masa pueden crecer en el sistema ventricular, dentro de ellas los quistes del plexo coroide. Estas son lesiones congénitas que asientan frecuentemente en el trígono ventricular. Histológicamente se caracterizan por una capa externa fibrosa y otra interna con un epitelio cuboidal. Los pequeños quistes son asintomáticos mientras que los grandes causan síntomas secundarios a la dilatación u obstrucción ventricular, se diagnostican con el apoyo de la TAC, la RMN y el ultrasonido, en los niños con fontaneras abiertas. Las lesiones sintomáticas son tratadas quirúrgicamente por diferentes procederes. En nuestro trabajo se presentan tres casos clínicos, dos pediátricos con crecimiento progresivo del quiste, durante la observación clínico-radiológica y el tercero un adulto que debuta con un síndrome de hipertensión endocraneana, todos fueron tratados con abordaje quirúrgico directo y exéresis total de la lesión, con una evolución favorable.

Vascular malformation and choroid plexus adrenal heterotopia: new findings in Beckwith-Wiedemann syndrome?

Large congenital arteriovenous malformations (AVM) may result in heart failure and death. We are reporting such combination with the AVM localized to the right thoracobrachial region. Remarkable postmortem findings included right renal and adrenal hemihyperplasia; the right adrenal fetal cortex presenting cytomegaly, endocrine pancreas hyperplasia, and heterotopic adrenal cortex with cytomegaly in the left lateral ventricle choroids plexus. The combination appears to be unique. The only previously reported example of adrenal cortex in the choroid plexus presented several features strongly suggestive of Beckwith-Wiedemann syndrome. Therefore, we postulate that additional uncommon findings in Beckwith-Wiedemann syndrome may include arteriovenous malformations and heterotopic adrenal tissue in choroids plexus.

Choroid plexus arteriovenous malformation presenting with intraventricular hemorrhage.

Intraventricular hemorrhage (IVH) uncommonly occurs in an otherwise healthy term neonate. We report a case of IVH in a term infant that was the result of an angiographically demonstrated arteriovenous malformation (AVM) despite the infant having a cranial ultrasonogram and magnetic resonance angiogram, which did not demonstrate the AVM.

The value of minor ultrasound markers for fetal aneuploidy.

As a result of improvements in ultrasound image quality and scanning technique, an increasing number of subtle morphological changes in fetal anatomy have been identified in the second trimester. Most of these ultrasound features were originally described as normal variants of development with no clinical significance. However, subsequent studies in high-risk populations showed that some of these variants were more prevalent in fetuses with chromosomal defects and therefore proposed as prenatal markers for the detection of aneuploidy. The implications for pregnancy management when one of these so-called minor ultrasound markers is detected have been a matter of continuous controversy in the field of prenatal diagnosis and yet the definitive answer on their clinical significance in the low-risk population is still debated.

Quiste del plexo coroideo: reporte de dos casos / Cyst of the choroid plexus: report of a case

El quiste del plexo coroideo es un hallazgo ecográfico y en ocasiones, se asocia a trisomía 18 ó 21. Se presentan dos casos en fetos con cariotipo normal y resolución espontánea. Cuando se observan recomendamos buscar otras alteraciones mediante el ecosonograma de II nivel, y plantear el estudio genético si existen anormalidades asociadas.

Marcadores sutiles de anomalías cromosómicas en el feto: detección ultrasonográfica, significado clínico y manejo / Soft markers of cromosomal anomalies in the fetus: ultrasonographic detection, clinical meaning and management

Se analiza el manejo clínico, en la detección de anomalías cromosómicas mínimas, diagnosticadas por ecografía y su relación con diferentes aneuploidias