A 25-year-old woman presented for routine prenatal ultrasound, which was concerning for severe hydrocephalus. Fetal MRI at 22 weeks showed a brainstem “kink” that suggested arrest or impairment in brain maturation around 7 weeks gestation, a sign of severe neurodysgenesis (figure 1). Differential diagnoses included α-dystroglycanopathies, X-linked hydrocephalus, and tubulinopathies.1 Postnatal imaging (figure 2) and clinical findings of hypotonia, macrocephaly, and optic nerve hypoplasia were consistent with Walker-Warburg syndrome (WWS), confirmed on sequencing of the ISPD gene. WWS is a severe dystroglycanopathy of autosomal recessive inheritance characterized by muscle, eye, and brain abnormalities.2 Death typically occurs within 1 year.
Fetal half-Fourier acquisition single-shot turbo spin echo MRI demonstrates a small “kinked” brainstem (arrow) associated with severe supratentorial ventriculomegaly.
T2-weighted MRI in (A) sagittal and (B) coronal cuts demonstrates multiple striking anomalies including cobblestoning lissencephaly, pontine and cerebellar hypoplasia, and a kink at the cervicomedullary junction consistent with Walker-Warburg syndrome.
Author contributions
R. Srivastava: drafting/revising the manuscript, data acquisition, accepts responsibility for conduct of research and final approval. F.-D. Morneau-Jacob: drafting/revising the manuscript, data acquisition, accepts responsibility for conduct of research and final approval.
Study funding
No targeted funding reported.
Disclosure
The authors report no disclosures relevant to the manuscript. Go to Neurology.org/N for full disclosures.
Footnotes
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
Teaching slides links.lww.com/WNL/A861
- © 2019 American Academy of Neurology
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