Dandy-Walker malformation complex: correlation between ultrasonographic diagnosis and postmortem neuropathology.

Joanna J Phillips; Barry S Mahony; Joseph R Siebert; Tasneem Lalani; Corinne L Fligner; Raj P Kapur

doi:10.1097/01.aog.0000200594.85483.8a

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Dandy-Walker malformation complex: correlation between ultrasonographic diagnosis and postmortem neuropathology.

Joanna J Phillips·Barry S Mahony·Joseph R Siebert·Tasneem Lalani·Corinne L Fligner·Raj P Kapur

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Abstract

OBJECTIVE: This autopsy-based study was designed to evaluate sonographic and neuropathologic findings of fetuses diagnosed prenatally with Dandy-Walker malformation complex. METHODS: The retrospective study encompassed a series of 44 autopsy cases from 2 tertiary referral centers with a prenatal ultrasound diagnosis of Dandy-Walker malformation complex between 1995 and 2003. Ultrasound and pathology data from the cases and from age-matched controls were reviewed in a blinded manner. An unequivocal diagnosis of Dandy-Walker malformation complex from ultrasonography or pathology archival images required significant hypoplasia or aplasia of the cerebellar vermis. RESULTS: Neuropathologic examination failed to confirm the prenatal diagnosis of Dandy-Walker malformation complex in 59% (26/44, 95% confidence interval [CI] 44-72) of the cases. After standardized reevaluation of high quality archival sonograms and pathology images, concordance remained poor at 55% (6/11 cases, 95% CI 28-79). Sonographic features that favored concordance included marked enlargement of the cisterna magna (> or = 10 mm), complete aplasia of the vermis, and a trapezoid-shaped gap between the cerebellar hemispheres. This latter finding contrasted with a keyhole-shaped gap in fetuses with no cerebellar neuropathology. CONCLUSION: Correlation between a prenatal ultrasound diagnosis of Dandy-Walker malformation complex and autopsy neuropathology findings is poor. Unequivocal prenatal sonographic diagnosis of Dandy-Walker malformation complex should be reserved for cases with the classic findings of Dandy-Walker malformation, including enlargement of the cisterna magna, aplasia of the vermis, and a trapezoid-shaped, rather than keyhole-shaped, interhemispheric gap. LEVEL OF EVIDENCE: III.

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Adolescent Adult Central Nervous System Dandy-Walker Syndrome Diagnostic Errors Female Fetus Humans Infant, Newborn Male Pregnancy Retrospective Studies Ultrasonography, Prenatal Journal Article

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Joanna J Phillips, Barry S Mahony, Joseph R Siebert, Tasneem Lalani, Corinne L Fligner, Raj P Kapur. 2006. Dandy-Walker malformation complex: correlation between ultrasonographic diagnosis and postmortem neuropathology.. https://doi.org/10.1097/01.aog.0000200594.85483.8a

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