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Article
June 1960

Familial Idiopathic Cerebral Calcifications in Childhood

Author Affiliations

Waverley, Mass.
Research Associate, Walter E. Fernald State School; Research Fellow, Harvard Medical School; Fulbright Scholar of the United States Educational Foundation in Denmark (Dr. Melchior). Director of Research and Psychiatry, Walter E. Fernald State School; Lecturer in Pediatrics, Tufts Medical School; Assistant Psychiatrist, Massachusetts General Hospital; Instructor, Harvard Medical School (Dr. Benda). Clinical Professor of Neuropathology and Curator of Warren Anatomical Medical School (Dr. Yakovlev).

AMA Am J Dis Child. 1960;99(6):787-803. doi:10.1001/archpedi.1960.02070030789015
Abstract

Among the progressive deteriorating diseases of infancy and childhood, some of which have been dealt with by us in three earlier publications,1-3 a group of conditions associated with the appearance of calcifications in the brain deserves special attention.

Calcifications in the brain occasionally found in infants or appearing gradually during childhood are associated with various conditions, some of which have firmly established clinical-anatomical patterns: tuberosclerosis, angiomatosis (Sturge-Weber syndrome), toxoplasmosis, hypoparathyroidism, cytomegalic inclusion-body disease, cysticercosis, and certain tumors. Another group of cases with a very particular form of intracranial calcifications has been classified as idiopathic nonarteriosclerotic calcifications of the brain. It is often referred to as "Fahr's disease." There may, however, be reasonable objections to this eponym because the condition has been known since Virchow's time and long before Fahr.

Recently we were able to study two families in which three and two siblings respectively were affected. In each family,

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