A 13-year-old boy, mentally deficient and never able to walk properly developed epileptic attacks for the first time at the age of 12 years. A rectal biopsy was done and while the light microscopical studies of the nervous tissue in that biopsy specimen furnished no information, the electron microscopical studies revealed the presence of anomalous inclusions described in association with juvenile amaurotic idiocy.
Duckett S, Cracco J, Lublin F, Scott T. Electron Microscopical Diagnosis of Lipidosis With the Use of Rectal Biopsy. Am J Dis Child. 1974;127(5):704–705. doi:10.1001/archpedi.1974.02110240090013
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