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.

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