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<p>We report the case of a&#xa0;male patient with an intellectual developmental disorder, generalized epilepsy and a&#xa0;movement disorder associated with myoclonus. The onset of the symptoms was in the first year of life with a&#xa0;slow progression thereafter. Initially, perinatal brain injury was suspected but the diagnosis could be revised at the age of 44&#xa0;years. Etiologically, the condition is explained by a&#xa0;genetic syndrome due to a&#xa0;pathogenic heterozygous variant in the dehydrodolichyl diphosphate synthase (<i>DHDDS</i>) gene (c.614G&gt;A; p.Arg205Gln). The clinical presentation and therapeutic options of these rare pathogenic genetic variants are discussed.</p>

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Heterozygote pathogene Varianten im DHDDS-Gen – seltene Ursache für eine bis ins mittlere Erwachsenenalter ungeklärte generalisierte Epilepsie mit Bewegungsstörung und intellektueller Entwicklungsstörung

  • 期刊论文

  • 发表日期：

    2026年3月16日

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  • Alexandru Barbu,
  • Bernhard J. Steinhoff

摘要

We report the case of a male patient with an intellectual developmental disorder, generalized epilepsy and a movement disorder associated with myoclonus. The onset of the symptoms was in the first year of life with a slow progression thereafter. Initially, perinatal brain injury was suspected but the diagnosis could be revised at the age of 44 years. Etiologically, the condition is explained by a genetic syndrome due to a pathogenic heterozygous variant in the dehydrodolichyl diphosphate synthase (DHDDS) gene (c.614G>A; p.Arg205Gln). The clinical presentation and therapeutic options of these rare pathogenic genetic variants are discussed.