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<p><i>Restrictive cerebral venopathy</i> was recently described in a young patient with cerebral venous ischemia, elevated intracranial pressure, and intracranial calcifications. It was anatomically characterized by extensive formation of tortuous small to medium-sized cortical veins and angiographic absence of the deep venous system. We report similar, albeit not identical, angiographic features in an 11-year-old girl with infantile autism, attention deficit disorder, dyslexia, and camptodactyly. Angiography revealed a venous anomaly characterized by diffuse marked tortuousities involving mainly pial and small cortical veins, partial maldevelopment of the deep venous system, and aplasia of the transverse sinuses. Magnetic resonance imaging showed no signs of venous ischemia. Genetic analyses identified a complex rearrangement involving three chromosomal segments. In conclusion, a unique case of non-restrictive cerebral venous dysgenesis associated with chromotripsis is presented.</p>

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Non-restrictive cerebral venous dysgenesis in an 11-year-old girl: a case report

  • 期刊论文

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  • 发表日期：

    2026年3月13日

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  • Maryam Mozaffari,
  • Rasmus Holmboe Dahl,
  • Malene Landbo Børresen,
  • Tina Duelund Hjortshøj,
  • Goetz Benndorf

摘要

Restrictive cerebral venopathy was recently described in a young patient with cerebral venous ischemia, elevated intracranial pressure, and intracranial calcifications. It was anatomically characterized by extensive formation of tortuous small to medium-sized cortical veins and angiographic absence of the deep venous system. We report similar, albeit not identical, angiographic features in an 11-year-old girl with infantile autism, attention deficit disorder, dyslexia, and camptodactyly. Angiography revealed a venous anomaly characterized by diffuse marked tortuousities involving mainly pial and small cortical veins, partial maldevelopment of the deep venous system, and aplasia of the transverse sinuses. Magnetic resonance imaging showed no signs of venous ischemia. Genetic analyses identified a complex rearrangement involving three chromosomal segments. In conclusion, a unique case of non-restrictive cerebral venous dysgenesis associated with chromotripsis is presented.