Severe infantile dentatorubral pallidoluysian atrophy with extreme expansion of CAG repeats
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Dentatorubral pallidoluysian atrophy (DRPLA) is an autosomal dominant disease that has a wide variety of clinical symptoms.1 There is a correlation between age at onset and clinical symptoms. Progressive myoclonus epilepsy (PME) is a usual feature of juvenile DRPLA; but late adult DRPLA patients usually experience cerebellar ataxia and hyperkinetic involuntary movements such as choreoathetosis, often without myoclonus or epilepsy.2 We report two unrelated patients with infantile DRPLA.
Patient 1.
The patient is a 4-year-old boy and the second child of healthy, nonconsanguineous Japanese parents without a family history of neurologic diseases. His father is 39 years old and his mother is 35 years old. He has a healthy 8-year-old brother. There were no major problems in the neonatal periods. He developed normally until age 6 months when his mother noticed decreased activity. At age 1 year, he could stand with support; but he began to regress slowly and became irritable. At age 2 years, he had difficulty controlling his head and swallowing, sometimes showing dystonic posture. …
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