C11orf95-RELA fusion present in a primary intracranial extra-axial ependymoma: Report of a case with literature review.

Ependymomas are gliomas that recapitulate the ependymal cells microscopically and ultrastructurally. They commonly occur along the ventricular surfaces and central canal of the brain and spinal cord. Intracranial extra-axial ependymoma (IEAE) is a rare entity and is commonly misdiagnosed clinically and radiologically as a meningioma. The histogenesis of such IEAEs is obscure. A novel recurrent oncogenic fusion involving the C11orf95 and RELA genes was recently described in supratentorial ependymomas. A 9-year-old girl presented with a dural based parafalcine mass that, in addition to exhibiting classical immunohistochemical features of an ependymoma, also demonstrated C11orf95-RELA fusion, characteristic of supratentorial ependymomas. We suggest that IEAEs share their histogenesis with their intra-axial counterparts, arising either from dural extension of subcortical, subependymal rests or directly from ectopic dural rests.

Synchronous Occurrence of Colloid Cyst With Intracranial Ossifying Fibromyxoid Tumor Masquerading as Meningioma.

Ossifying fibromyxoid tumor (OFMT) is a rare fibro-osseous neoplasm. We present a case highlighting the occurrence of an intracranial OFMT masquerading as meningioma on imaging in a 46-year-old gentleman. Brain imaging revealed an extra-axial calcified lesion along the left cerebellar convexity appearing hypointense on T1- and T2-weighted MRI sequences with no post-contrast enhancement, suggestive of a meningioma. An intraventricular colloid cyst was also noted. The lesion, which was presumed to be meningioma, and the colloid cyst were resected in two subsequent operative settings. Histopathological examination of the calcified lesion confirmed the findings of an OFMT. This report aims to inform the physician about intracranial OFMT mimicking meningioma on imaging. In addition, since multiple brain tumors are not very common, the surgeon should always have a suspicion should there be any heterogeneous and peculiar radiological and histopathological characteristics.

Conveyor Belt Entrapment Trauma in Children: An Unreported Menace.

A retrospective study was conducted including all the children who sustained motorized machine belt entrapment injuries. Six children included in study had mean (SD) Glosgow coma scale and pediatric trauma score of 5.7 (3.54) and 3.2 (1.21), respectively. Overall mortality and paraplegia rate were 33.3% each. Awareness and legislation both are important to curb this menace.

Thyroid incidentaloma.

Because of emerging investigation modalities many of the thyroid lesions are picked up and that poses a big dilemma about management of such lesions. Majority of these lesions especially in iodine-deficient regions, are not significant and may be only followed up without any active treatment but, sometimes the small lesions may be microcarcinoma. This article discusses about the reliability of clinical examination of neck for detection of such lesions, the controversy of such lesion being benign or malignant, and how to evaluate these lesions and the recommendation as per American Thyroid Association guidelines.

Clinical spectrum of neural tube defects with special reference to karyotyping study.

BACKGROUND: Neural tube defects are common congenital malformations of the central nervous system. Despite years of intensive epidemiological, clinical, and experimental research, the exact etiology of NTD remains rather complex and poorly understood. The present study attempted to look into the association of occurrence of NTD with reference to folic acid levels, along with karyotyping status. MATERIALS AND METHODS: Detailed history was taken with emphasis on age of the baby and mother, parity, antenatal folic acid intake. Five milliliters of blood was drawn from all the babies and their mothers and divided equally in preheparinized vials (for karyotyping) and plain vials (for folic acid estimation). The total duration was 2 years. RESULTS: The total number (n) in the study group was 75. The folic acid level was less in affected babies and their mother when compared to matched controls. Chromosomal defect was observed in nine of the 75 patients. Karyotyping defects were higher in children born to mothers of the age group 31-40 years and when their birth order was second. CONCLUSION: Folic acid supplementation needs to be continued to prevent the occurrence of NTD, and the perinatal identification of NTD should alert one to the possibility of chromosomal abnormalities and prompt a thorough cytogenetic investigation and genetic counseling.