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Association of Autism, Retinoblastoma, and Reduced Esterase D Activity

Edward R. Ritvo, MD; Anne Mason-Brothers; John H. Menkes, MD; Robert S. Sparkes, MD
Arch Gen Psychiatry. 1988;45(6):600. doi:10.1001/archpsyc.1988.01800300098019.
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To the Editor.—  We wish to report the simultaneous occurrence of autism, sporadic retinoblastoma, reduced esterase D activity, and a deletion on chromosome 13 in a 19-year-old woman with an autistic maternal second cousin.The patient was born following an apparently normal pregnancy and delivery. She was identified as developmentally delayed by the end of her first year of life. At age 2Vz years, a retinoblastoma of the right eye was removed by enucleation. No radiation was given, and her left eye remained uninvolved. The diagnosis of autism was established by repeated developmental, psychiatric, psychologic, and educational assessments (DSM-III1 and National Society for Autistic Children2 criteria). Mental status examination by one of us (E.R.R.) confirmed the diagnosis of autism, full syndrome present (DSM-III 299.0).1 The red blood cell esterase D level was 50% normal, and trypsin-Giemsa chromosome banding analysis revealed a deletion on the long arm of


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