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Dandy-Walker malformation in identical twins

L R Jenkyn, D W Roberts, A L Merlis

    Neurology
    |March 1, 1981
    PubMed
    Summary
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    A mother experienced stillbirth of an anencephalic child and later had twins with macrocephaly, a condition linked to posterior brain malformations consistent with Dandy-Walker syndrome.

    Area of Science:

    • Neuroscience
    • Medical Genetics
    • Developmental Biology

    Background:

    • Anencephaly is a severe neural tube defect incompatible with life.
    • Dandy-Walker syndrome is a congenital brain malformation characterized by cystic dilation of the fourth ventricle and hypoplasia of the cerebellar vermis.

    Observation:

    • A mother with a history of a stillborn anencephalic child later gave birth to twins.
    • Both twins presented with macrocephaly, a condition of abnormally large head size.
    • Imaging revealed cystic malformations in the posterior brain structures of the twins.

    Findings:

    • The observed macrocephaly in the twins was attributed to cystic malformations of posterior brain structures.
    • These findings were deemed compatible with the diagnostic criteria for Dandy-Walker syndrome.

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  • The case suggests a potential familial predisposition or shared etiology between anencephaly and Dandy-Walker syndrome in this family.

    • Implications:

    • This case highlights the importance of considering Dandy-Walker syndrome in the differential diagnosis of macrocephaly in neonates, especially with a family history of severe congenital brain anomalies.
    • Further research into the genetic and environmental factors underlying both anencephaly and Dandy-Walker syndrome may elucidate shared pathogenic mechanisms.
    • Understanding these connections can improve genetic counseling and prenatal diagnostic strategies for families at risk of recurrent brain malformations.