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Late onset of distinct neurologic syndromes in galactosemic siblings

Department of Neurology, Roger Williams General Hospital, Brown University, Providence, RI (Dr. Friedman)
Department of Neurology, Joseph P. Kennedy Jr. Laboratories of the Neurology Service, the Massachusetts General Hospital and Harvard Medical School, Boston, MA.(Dr. Levy)
Shriver Center Department of Neurology, the Massachusetts General Hospital and Harvard Medical School, Boston, MA. (Dr. Boustany)

We discuss siblings with galactose-1-phosphate uridyl transferase deficiency who developed neurologic complications after the age of 30. One has partial complex seizure and the other has generalized seizures, progressive ataxia, and apraxia. As more galactosemic children survive into adulthood, more neurologic complications may become more prevalent.

Supported in part by grant NS 05096 from the National Institute of Neurological and Communicative Disorders and Stroke.

Received July 21, 1988. Accepted for publication in final form November 30, 1988.

Address correspondence and reprint request to Dr. Friedman, Department of Neurology, Roger Williams General Hospital, 825 Chalkstone Avenue, Providence, RI 02908.