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A Case of Infantile Amaurotic Family Idiocy
Author(s) -
BJELKHAGEN INGEMAR,
Malmberg N.
Publication year - 1950
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1950.tb08542.x
Subject(s) - medicine , cerebrospinal fluid , pathology , dermatology
Summary. After having reviewed literature on infantile amaurotic family idiocy (Tay‐Sachs type) a report is given of such a case. The blood cholesterin was found to be higher in at least 1 test and cholesterin was also traced in the cerebrospinal fluid. For the first time a colour‐photo of the fundi of the eyes, an electroretinogram and an electroencephalogram have been published in a case of this disease.