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January 1939

CONGENITAL MORPHOLOGIC ABNORMALITIES OF THE BRAIN IN A CASE OF ABORTIVE TUBEROUS SCLEROSISFUNCTIONAL IMPLICATIONS AND BEARING ON PATHOGENESIS OF SO-CALLED GENUINE EPILEPSY

Author Affiliations

WALTHAM, MASS.

Arch NeurPsych. 1939;41(1):119-139. doi:10.1001/archneurpsyc.1939.02270130129008
Abstract

In two previous publications1 the clinical aspects and the nosologic position of tuberous sclerosis in the group of "congenital ectodermoses" were considered in detail. Van Bogaert,2 in a study of these congenital ectodermal dysplasias, gave an excellent presentation of the subject, with special reference to familial and hereditary factors. Critchley and Earl3 made a thorough study of the clinical and the morbid anatomic aspects of tuberous sclerosis and reviewed the literature. In typical cases of tuberous sclerosis the highly characteristic congenital abnormalities of the skin, viz., sebaceous adenoma of the face, "shagreen" patches in the sacrolumbar region, tumors of the nail bed and nevoid tumors of the retina, associated with epilepsy and congenital mental defect, permit one to recognize the condition at a glance during life. Autopsy in such cases never fails to reveal the whitish or yellowish hard nodules (tubera) which may be seen almost anywhere

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