Marta Jones

Congenital Pancreatoblastoma in Beckwith Wiedemann Syndrome

We present a male newborn (weight 4000 g) who died at age 12 days with a clinical history of persistent hypoglycemia and polycythemia. Clinical examination disclosed somatic hemihypertrophy (left side), a large unbilical hernia, macroglossia, and an intraabdominal tumor, consistent with the diagnosis of Beckwith-Wiedemann syndrome (EMG syndrome) and hemihypertrophy. Necropsy findings included visceromegaly (left kidney and adrenal), cytomegaly of the fetal cortex and nodular arrangement of both adrenals, diffuse nesidioblastosis and islet cell hyperplasia of the pancreas, and persistent glomerulogenesis. The tumor was a cystic pancreatoblastoma attached to the anterior surface of the pancreas. Three other examples of this association, congenital pancreatoblastoma and Beckwith-Wiedemann syndrome, all in males, are on record in the literature, indicating a strong relationship between both conditions.

Pleomorphic Xanthoastrocytoma: A Report of Two Cases

We report two cases of a recently isolated variety of astrocytoma, pleomorphic xanthoastrocytoma, affecting the cerebral cortex and meninges of children and young adults. The first tumor was localized in the left frontal lobe of a 9-year-old girl. The second appeared in the right parietal lobe of a 14-year-old girl. Both tumors displayed a pleomorphic cellular proliferation, with spindle-shaped and bizarre multinucleated giant cells, some positive for neutral lipids, with a prominent reticulin network and areas highly suggestive of malignant fibrohistiocytomas (fibroxanthosarcomas). The glial fibrillary acidic protein was demonstrated by the immunoperoxidase method in the cytoplasm of the giant and the spindle cells. Ultrastructural studies confirmed the glial nature of the tumor. This type of tumor seems to carry a much better prognosis than other tumors from which it has to be separated, e.g., glioblastoma and meningeal sarcomas.

ANOMALIES OF THE BRAIN AND CONGENITAL HEART DISEASE: A Study of 52 Necropsy Cases

During routine autopsy examinations several macroscopic anomalies of brains were noted in children with congenital heart disease (CHD). To define these observations 52 autopsies of cases with CHD as well as 52 controls were compiled. Cases were divided into two groups according to the absence (group I) or presence (group II) of a multimalformative syndrome (MMS). Fifty percent of the sample was associated with MMS. Brain anomalies were classified into grades I, mild and focal; II, intermediate, focal or diffuse; and III, severe and diffuse. Group I was associated with brain anomalies (mainly of grades I and II with altered gyri) in 19 of 28, whereas in Group II the brains frequently had compromise of lobes, gyri, and fissures, 18 of 24. The relationship between the types of CHD, grade of brain anomalies, and MMS is delineated. The high frequency of brain anomalies associated with CHD but without other malformations (67.8%) suggests a clinical counterpart of these lesions.

Germinoma of the Pineal Body with Syncytiotrophoblastic Giant Cells

Almost all types of germ cell tumors are known to occur in the third ventricle-pineal region. In this paper we report the case of a 16-year-old boy having a particular subtype of germinoma of the pineal body in which scattered syncytiotrophoblastic cells positive for human chorionic gonadotropin were found. This tumor is considered the central nervous system counterpart of seminoma with syncytiotrophoblastic giant cells and dysgerminoma with syncytiotrophoblastic giant cells.

Gliofibroma: Report of Four Cases and Review of the Literature

Abstract Gliofibroma is a relatively rare variant of a mixed glial-fibrous tumor more frequent in children than in adults. It has been reported to appear all along the neuraxis, with predilection for the midline. Its evolution is usually benign, although few examples have shown either multiple sites of involvement or leptomeningeal dissemination. Some authors regard it as part of the desmoplastic astrocytoma spectrum. We report here four examples of this rare condition which exemplify its histological patterns and biological behavior, and provide a review of the literature. Even though this tumor is commonly regarded as heterogeneous and with variable course, our literature review points to a set of clinical and pathological traits that are constant, such as age, location and gross and histological characteristics, as well as a predictable evolution. Currently, this tumor is not included in the WHO Classification of CNS tumors.

EMPTY SELLA SYNDROME, PANHYPOPITUITARISM, AND DIABETES INSIPIDUS

We present an 18-month-old girl with short stature, obesity, panhypopituitarism, diabetes insipidus, and visual defects. Postmortem examination revealed brain atrophy due to a diffuse encephalopathy, numerous calcified neurons in cerebral cortex, deep telencephalic and diencephalic nuclei, diffuse neuronal necrosis in hypothalamic nuclei, moderate atrophy of optic nerves, very thin hypophyseal stalk, and empty sella with the hypophysis compressed to the dorsal aspect of the concavity. Our hypothesis is that the presence of an empty sella in a child with hypophyseal-hypothalamic abnormalities should alert physicians to the existence of hypothalamic lesions secondary to a perinatal insult. We discuss the possible pathogenesis of these findings as well as lines of evidence available in the literature.