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Autosomal dominant polycystic disease with associated arachnoid cysts and subdural cystic hygroma requiring shunting

Journal of Perinatology volume 30, pages 566–568 (2010)Cite this article

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The patient's mother, grandmother, and maternal aunt all have known autosomal polycystic kidney disease, type 1 (ADPCKD, type 1). None have received a kidney transplant as yet. A nonsense mutation in the PKD1 gene encoding polycystin 1 was confirmed in all affected family members, including in this infant. The cranial magnetic resonance imaging showed the presence of a large arachnoid cyst in the posterior fossa and bilateral supratentorial subdural cystic hygromas as well as small arachnoid cysts.

ADPCKD is an autosomal dominant condition due to mutations in the polycystin 1 gene in chromosome 16p in 85% of cases, termed type 1 ADPCKD or to mutuations in the polycystin 2 gene on chromosome 4q in 15% of cases, termed type 2 ADPCKD. Type 2 ADPCKD is a milder form of the disease.

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Authors and Affiliations

  1. Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO, USA

    T E Herman & M J Siegel

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  1. T E Herman
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  2. M J Siegel
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Correspondence to T E Herman.

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Herman, T., Siegel, M. Autosomal dominant polycystic disease with associated arachnoid cysts and subdural cystic hygroma requiring shunting. J Perinatol 30, 566–568 (2010). https://doi.org/10.1038/jp.2010.67

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