Fernanda Gonçalves de Andrade

Major clinical features of synostotic occipital plagiocephaly: mechanisms of cranial deformations

PurposeThe clinical diagnosis of most common single-suture craniosynostosis is easily set, based on the stereotype of deformities and knowledge of the mechanisms of cranial deformations. However, synostosis of unilateral lambdoid suture, probably due to its lower incidence and similarity with other non-synostotic deformities affecting the posterior portion of the skull, makes its clinical diagnosis more difficult and imprecise. The aim of this study is to evaluate the most easily and accurate clinical characteristics to be recognized in the synostotic occipital plagiocephaly.MethodsThis study consisted of clinical evaluation of eight patients with synostotic occipital plagiocephaly, whose diagnosis was further corroborated by computed tomography.ResultsWe identified the following: unilateral occipital flattening in eight out of eight patients (100 %), bulging of ipsilateral mastoid process in eight out of eight (100 %), “edge effect” of ipsilateral lambdoid suture in eight out of eight (100 %), inferior deviation of the ear in eight out of eight (100 %), “Dumbo” ears in eight out of eight (100 %), horizontal slant of the bimastoid line in seven out of eight (87.5 %), tilt of the head viewed from behind in seven out of eight (87.5 %), trapezoidal contour of the skull in top view in six out of eight (75 %), contralateral parietal bossing in six out of eight (75 %), and bossing of the contralateral forehead three out of eight (37.5 %).ConclusionsThe most important clinical features specific to the clinical diagnosis of synostotic occipital plagiocephaly, not present in the positional posterior plagiocephaly, were bulging of the ipsilateral mastoid process, edge effect of the synostotic lambdoid suture, tilt of the head, and slant of the bimastoid line viewed from behind, inferior deviation of the ear, and contralateral parietal bossing.

Surgical approaches to IV ventricle – anatomical study

PurposeKnowledge of anatomy of the IV ventricle is basic to surgical approach of any kind of lesion in its compartment as well as for those located in its neighborhood. The purpose of this study is to demonstrate the surgical approach options for the IV ventricle, based on the step by step dissection of anatomical specimens.MethodsFifty formalin-fixed specimens provided were the material for this study. The dissections were performed in the microsurgical laboratory in Gainesville, Florida, USA.ResultsThe IV ventricle in a midline sagittal cut shows a tent-shaped cavity with its roofs pointing posteriorly and the floor formed by the pons and the medulla. The superior roof is formed by the superior cerebellar peduncles laterally and the superior medullary velum on the midline. The inferior roof is formed by the tela choroidea, the velum medullary inferior, and the nodule. The floor of the IV ventricle has a rhomboid shape. The rostral two thirds are related to the pons, and the caudal one third is posterior to the medulla. The median sulcus divides the floor in symmetrical halves. The sulcus limitans runs laterally to the median sulcus, and the area between the two sulci is called the median eminence. The median eminence contains rounded prominence related to the cranial nucleus of facial, hypoglossal, and vagal nerves. The lateral recesses are extensions of the IV ventricle that opens into the cerebellopontine cistern. The cerebellomedullary fissure is a space between the cerebellum and the medulla and can be used as a surgical corridor to the IV ventricle.ConclusionsWe obtained in this study a didactic dissection of the different anatomical structures, whose recognition is important for addressing the IV ventricle lesions.

Immunohistochemical expression of cyclin D1 is higher in supratentorial ependymomas and predicts relapses in gross total resection cases.

Ependymomas are tumors of the CNS. Although cyclin D1 overexpression has been related to several cancers, its prognostic value in ependymomas has not yet been fully established. We evaluated cyclin D1 expression by an immunohistochemistry analysis of 149 samples of ependymomas, including some relapses, corresponding to 121 patients. Eighty‐one patients were adults, 60 were intracranial cases and 92 tumors were grade II. Gross total resection (GTR) was achieved in 62% of cases, and relapse was confirmed in 41.4% of cases. Cyclin D1 protein expression was analyzed by immunohistochemistry and scored with a labeling index (LI) calculated as the percentage of positively stained cells by intensity. We also analyzed expression of CCND1 and NOTCH1 in 33 samples of ependymoma by quantitative real‐time PCR. A correlation between cyclin D1 LI score and anaplastic cases (P < 0.001), supratentorial location (P < 0.001) and age (P = 0.001) were observed. A stratified analysis demonstrated that cyclin D1 protein expression was strong in tumors with a supratentorial location, independent of the histological grade or age. Relapse was more frequent in cases with a higher cyclin D1 LI score (P = 0.046), and correlation with progression‐free survival was observed in cases with GTR (P = 0.002). Only spinal canal tumor location and GTR were suggestive markers of PFS in multivarite analyses. Higher expression levels were observed in anaplastic cases for CCND1 (P = 0.002), in supratentorial cases for CCND1 (P = 0.008) and NOTCH1 (P = 0.011). There were correlations between the cyclin D1 mRNA and protein expression levels (P < 0.0001) and between CCND1 and NOTCH1 expression levels (P = 0.003). Higher cyclin D1 LI was predominant in supratentorial location and predict relapse in GTR cases. Cyclin D1 could be used as an immunohistochemical marker to guide follow‐up and treatment in these cases.

Reversible ventriculoperitoneal shunt dysfunction and chronic constipation: case report

Constipation can cause transient malfunction of the ventriculoperitoneal shunt (VPS). Patients with myelomeningocele or cerebral palsy are often diagnosed with hydrocephalus and constipation due to neurogenic bowel. These patients are more prone to VPS dysfunction, often requiring surgical revision. The authors report the case of a 6-year-old girl with a VPS that had been implanted due to hydrocephalus secondary to myelomeningocele. The patient was brought to the emergency department with intermittent headache, vomiting, constipation, and abdominal distension and pain. A CT scan revealed ventricular dilatation and radiography of the abdomen showed bowel loop distension. After a Fleet enema and digital maneuvers, her abdominal distension and symptoms improved. A CT scan obtained 24 hours later showed a reduction in ventricular size. The mechanism by which constipation can lead to VPS malfunction can be traced to indirect increases of intraabdominal pressure and direct obstruction of the catheter by distended intestinal loops. Treating constipation can restore the free circulation of the CSF and avoid surgical intervention. Careful neurological monitoring of these patients is essential, because some measures used to treat constipation can increase intracranial pressure. The objective of this report was to highlight constipation as a possible cause of transient VPS malfunction, thereby avoiding unnecessary surgical revisions, to which children with hydrocephalus are frequently submitted.

Temporal arachnoid cysts: are they congenital?

Case reportThe authors report two cases of arachnoid cysts (ACs) neither detected during pregnancy nor shortly after birth when newborns underwent CT scan evaluation after birth head trauma. ACs were diagnosed at 10 months and 6 years, respectively. The first one becomes symptomatic, and the other one was incidentally found during a head trauma investigation.DiscussionThese cases give support for the postnatal pathogenesis for some of the assumed congenital ACs. We collected data from the literature that supports the acquired hypothesis for ACs.

Abstract 5594: Cyclin D1 expression correlates with supratentorial location of ependymomas

Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA Ependymomas are rare central nervous system tumors. Clinical variables are intercorrelated and usually are not able to predict the disease course. Cyclin D1 is an important regulator of cell cycle and its overexpression has been related with several cancers. The prognostic value of increased cyclin D1 expression in ependymomas has not yet been fully established. We aimed to analyze cyclin D1 gene (CCND1) and protein expression in a large series of ependymomas. We initially performed CCND1 expression in 32 cases of ependymomas. We further analyzed cyclin D1 protein expression by immunohistochemistry of a tissue microarray of 149 samples of ependymomas, corresponding to 121 patients (including relapses). Forty patients were under 18 years and 81 patients were adults (mean 27.2 years). There were 61 intracranial and 60 spinal cases, of which 10 tumors were grade I (myxopapillary), 92 grade II and 19 grade III (anaplastic). Gross total resection was achieved in 62% of cases. Relapse was confirmed in 40.4% of cases (mean follow up of 53 months) and tissue samples of the first surgery and the relapse resection were available for 23 patients. Immunohistochemical reactions were analyzed by two observers independently and final labeling indices (LI) were calculated as the percentage of the positively stained nuclei (negative=0, 0-25%=1, 26-50%=2, 51-75%=3, >75%=4, and focal=F) over the intensity (weak=1, moderate=2, strong=3). Higher CCND1 expression levels were observed in anaplastic cases (p<0.0001) with supratentorial localization (p=0.029). Cyclin D1 expression was considered as negative in 12.9% (LI=0), focal in 17%, weak in 23.1% (LI=1, 2 or 3), moderate in 19.7% (LI=4 or 6) and strong in 27.2% (LI=9 or 12). There was a correlation between mRNA and protein expression levels (p=0.017). Additionally, statistically significant correlations between cyclin D1 LI score and clinical variables as age (p=0.001), tumor location (p<0.0001), histological grade (p<0.0001) and relapse (p=0.046) were observed. Stratified analysis demonstrated that cyclin D1 expression was strong in supratentorial tumor location in grade II (8/12, p<0.0001) and grade III (23/26, p=0.002), in children (22/26 p<0.001) and adults (9/12, p<0.0001). However, cyclin D1 expression did not correlated with progression free survival (p=0.107). Multivariate analysis revealed that risk of recurrence was associated with intracranial tumor location (hazard ratio=4.7; p=0.03) and incomplete resection of tumors (hazard ratio = 6.35; p=0.012) in this cohort. Although there were more relapses in patients with gross total resection and strong cyclin D1 expression (p=0.013), no correlation with incomplete resection was observed (p=0.430). Determination of cyclin D1 expression LI could be used to guide treatment in supratentorial cases with gross total resection. Citation Format: Fernanda G. Andrade, Suely K. N. Marie, Hamilton Matushita, Sergio Rosemberg, Sueli M. Oba-Shinjo. Cyclin D1 expression correlates with supratentorial location of ependymomas. [abstract]. In: Proceedings of the 105th Annual Meeting of the American Association for Cancer Research; 2014 Apr 5-9; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2014;74(19 Suppl):Abstract nr 5594. doi:10.1158/1538-7445.AM2014-5594