Carl P. Boesel

Maternal diet and risk of astrocytic glioma in children: a report from the Childrens Cancer Group (United States and Canada)

N-nitroso compounds and their precursors, nitrites and nitrates, have been hypothesized as risk factors, and vitamins C and E, which inhibit N-nitroso formation, as protective factors for brain tumors. A case-control study of maternal diet during pregnancy and risk of astrocytoma, the most common childhood brain tumor, was conducted by the Childrens Cancer Group. The study included 155 cases under age six at diagnosis and the same number of matched controls selected by random-digit dialing. A trned was observed for consumption of cured meats, which contain preformed nitrosamines (a class of N-nitroso compounds) and their precursors (adjusted odds ratio [OR] for highest quartile of intake relative to lowest=1.7,P trend=0.10). However, no strong trends were observed for nitrosamine (OR=0.8,P=0.60); nitrite (OR=1.3,P=0.54); nitrate (OR=0.7,P=0.43); vitamin C (OR=0.7,P=0.37); or vitamin E (OR=0.7,P=0.48). Iron supplements were associated with a significant decrease in risk (OR=0.5, 95 percent confidence interval=0.3–0.8). The effect of several dietary factors differed by income level, making interpretation of the results difficult. Future research should investigate the effect of dietary components not assessed in this study, as these may explain the disparate effects by income level. The results of this study provide limited support for the nitrosamine hypothesis.

Melanotic medulloblastoma. Report of a case with ultrastructural findings.

A pigmented neoplasm of the cerebellar vermis in a four year old child was typical of differentiating medulloblastoma with islands of epithelial-like cells containing melanin pigment. There have been several previous reports of such melanotic cerebellar neoplasms. Reported cases have had a clinically malignant behavior with dissemination in the central nervous system. They appear to be variants of medulloblastoma and not pigmented neuroectodermal tumors of infancy (melanotic prognomas or retinal anlage tumors). Ultrastructurally the neoplasm was compatible with medulloblastoma with focal poorly differentiated cells which contained melanin pigment. The pigment resembled neural crest (cutaneous or ocular) melanin rather than neuromelanin.

A pigmented choroid plexus carcinoma: histochemical and ultrastructural studies.

A large tumor of the left lateral ventricle in a 3 1/2 year old male was diagnostic of malignant choroid plexus papilloma (choroid plexus carcinoma) as observed histologically. Focal neoplastic epithelial cells contained yellow-brown pigment which was not entirely compatible with melanin by histochemical techniques. Ultrastructurally, the tumor had definite evidence of choroid plexus origin. The neoplastic cells contained electron-dense and lamellar bodies, as well as structures of intermediate type. Premelanosomes were not observed. Thus there was no evidence for neural crest melanin. It is suggested that the pigment is probably lipofuscin and melanin derived from lipofuscin by “melanization” through pseudoperoxidation.

Family history of cancer and seizures in young children with brain tumors: a report from the Childrens Cancer Group (United States and Canada)

The occurrence of cancer and neurological disorders in first- and second-degree relatives of children in the United States and Canada diagnosed with brain tumor before age six was investigated. A pair-matched casecontrol study with 155 astrocytoma and 166 primitive neuroectodermal tumor (PNET) cases was performed. Cases were identified through the Childrens Cancer Group. Controls were selected by random-digit dialing and matched to cases on age, race, and telephone area code and exchange. Childhood cancers were more common in PNET relatives compared with the general population (standardized incidence ratio [SIR]=2.5, 95 percent confidence interval [CI] 1.1–4.8, P=0.02) and with control relatives (odds ratio [OR]=3.0, CI=0.5–30, P=0.29). For astrocytoma, nonsignificant excesses of brain tumor, leukemia/lymphoma, and childhood cancer occurred among case relatives compared with control relatives, but not compared with the general population. Astrocytoma cases were significantly more likely than controls to have a relative with seizures (OR=2.5, CI=1.2–4.9, P=0.009), especially childhood seizures (OR=3.4, CI=1.2–12, P=0.02), epilepsy (OR=3.0, CI=0.9–13, P=0.08), and febrile convulsions (OR=4.5, CI=0.9–43, P=0.07). A family history of stroke was not a risk factor for either type of brain tumor. These results suggest that some childhood brain tumors may result from a genetic susceptibility and that some risk factors may affect childhood astrocytoma and PNET differently.

Partial NADH dehydrogenase defect presenting as spastic cerebral palsy.

Mitochondrial myopathies are heterogeneous disorders. They may present at any age with a variable clinical course. We report a 6-year-old boy presenting as spastic cerebral palsy for 4 years, then athetotic movements and loss of milestones. He was eventually found to have NADH dehydrogenase deficiency.

Congenital Anophthalmia Associated with Intracranial Germinoma

A 14‐year‐old boy with anophthalmia presented evidence of hypothalamic dysfunction. He was found to have a third‐ventricular germinoma, probably pineal. This case is interesting in view of a previous case report of the association of anophthalmia and a germ‐cell tumor (teratoma), and suggests a possible causal relationship between this malformation and germ‐cell neoplasms, both of which probably arise early in development.

A Hypotonic Infant With Complete Deficiencies of Acid Maltase and Debrancher Enzyme

Infantile acid maltase deficiency is an autosomal recessive disease that invariably leads to death in the first 2 years of life. Debrancher deficiency, also an autosomal recessive disease, however, carries a slowly progressive course. We report a hypotonic infant with a typical clinical course of infantile acid maltase deficiency in whom biochemical investigation revealed complete deficiencies of both acid maltase and debrancher enzyme. (J Child Neurol 1994;9:90-91).