Michael D. Partington

Hereditary factors in the etiology of neural tube defects. Results of a survey

Ongoing research in the etiology of neural tube defects is increasingly being directed towards the molecular mechanisms at work in the formation of these complex lesions. We undertook to review the family history of patients in a large myelomeningocele/spina bifida clinic in an effort to identify genetic trends in these families, particularly as they relate to current research efforts and laboratory models. Surveys were received from 363 patients (35.5% of the clinic population) and analyzed. The myelomeningocele recurrence rate was 4.3%. Seven sets of twins were identified and all were discordant for their spinal lesions. A family history of spina was found to be evenly distributed between maternal and paternal relatives, rather than tending to follow through the maternal side. Epilepsy was more commonly found on the maternal side of the family, most likely reflecting the postulated causal relationship between maternal anticonvulsant use and the occurrence of spina bifida, although also possibly supporting the concept that a genetic predisposition for maternal epilepsy may also be associated with a higher frequency of birth defects among children of epileptics, independent of anticonvulsant use. Patients with spina bifida in the setting of Waardenburg syndrome and fragile X syndrome were also identified and will be discussed.

Astroblastoma: Ultrastructural Observations on a Case of High-Grade Type

An astroblastoma of high-grade type arising in the brain of a 3-year-old child is reported. The first description of the ultrastructural, immunohistochemical, and cytogenetic findings in this rare tumor variant are presented.

Sickle Cell Trait and Stroke in Children

Cerebrovascular complications of sickle cell anemia are well known to be one of the more common causes of stroke in the pediatric age group. Although it is far less common, the association of stroke with sickle cell trait has been described in young adults and only twice in children in the English literature. In this report, we describe a case of a posterior circulation infarct occurring in a 12-year-old male who also had a normal variant vertebral artery, which may have been a contributing factor in his presentation. The literature is reviewed and other possible risk factors for stroke in sickle cell trait are discussed.

Overview and clinical presentation of inflicted head injury in infants

Child abuse is a widespread phenomenon which is increasingly recognized in our culture. In this chapter, the epidemiology, clinical presentation, and commonly associated injuries are reviewed. The typical presentation and clinical assessment of inflicted head injury is also described.

An Endoscopic View of the Anterior Commissure

During endoscopic procedures in the third ventricle I have noticed a structure which frequently lies anterior and inferior to the foramen of Monro, especially in cases of severe ventriculomegaly (fig. 1). It is surrounded on all sides in the sagittal plane by CSF, in other words is lying freely in the cavity of the ventricle, but attached laterally to the walls below the fornices. It is invariably white in color. I have noted that in presentations other people routinely refer to a similar structure as the massa intermedia, which it patently cannot be. I would suggest that it is in fact the anterior commissure [1], which in advanced cases may lie freely within the ventricular cavity, as suggested by the attached MRI scan (fig. 2). OOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOO

Perspectives on the Ependymoma

Ependymomas can involve all portions of the central nervous system. The surgical outcome is related to the location of the primary tumor. The myxopapillary ependymoma of the cauda equina usually has a good prognosis and requires no adjunctive therapy following total removal; while the ependymoma of the posterior fossa of a child is a very malignant neoplasm. Fortunately, the posterior fossa ependymoma is not the most common tumor of childhood, on the other hand, it is not rare and continues, in spite of progress, to kill and impair the function of many children. Periodically, Fred Epstein calls together experts from around the world to discuss particularly difficult problems in pediatric neurosurgery. The Ependymoma Meeting is the most recent effort. While no consensus results from these meetings, the state of the art, from diagnosis, surgery, adjuvant therapy and outcome are reviewed and discussed. Manuscripts from these meetings represent a significant contribution to our speciality. Over the next several months Pediatric Neurosurgery will publish a series of papers under Perspectives on the Ependymoma. This is part of a continuing effort of Pediatric Neurosurgery to bring to its readers relevant reviews on the management of surgical problems of the nervous system of children.