Prenatal diagnosis · 2026
Prenatal Diagnosis and Neurodevelopmental Outcome of Children With Marked Opening of the Fourth Ventricle: Challenges and Pitfalls in MRI Diagnostic Criteria.
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Schieffer Léa, Garel Catherine, Guibaud Laurent, Rougeot-Jung Christelle, Burglen Lydie, Massoud Mona, Ville Dorothée, Blondiaux Eléonore, Jouannic Jean Marie, Cabet Sara, DesPortes Vincent, Valence Stéphanie
Аннотация
INTRODUCTION: The neurodevelopmental outcome of 'Cystic' malformations of the posterior fossa with marked opening of the fourth ventricle, such as Dandy Walker malformation (DWM) and large Blake's pouch cyst (BPC), is a major issue. This study aimed to refine relevant MRI criteria for distinguishing DWM from BPC and identify prognostic factors.
PATIENTS AND METHODS: Inclusion criteria were prenatal retrocerebellar fluid space diameter > 10 mm, marked opening of the fourth ventricle with a tegmento-vermian angle (TVA) > 40°, and postnatal follow-up > 2 years.
RESULTS: 27 patients were classified as follows: 6 DWM characterized by an overall upward orientation of the tentorium, an open tegmento-tentorial angle (TTA > 78 ) and a high TVA (median 132°); 15 BPC with a normal downward orientation of the proximal part of the tentorium (TTA < 68°) and distal upward displacement (median TVA 74°); 3 PHACE syndromes (Posterior fossa abnormalities, Haemangioma, Arterial cerebrovascular anomalies, Cardiac defects, Eye anomalies) and 3 unclassified. Four prognostic factors were identified, (i) diagnosis: DWM (two deaths, three learning disabilities and one typical development (TD)) versus BPC (five learning disabilities [4/5 with associated malformation or genetic defects] and 10 TD); (ii) associated versus isolated (36% vs. 87% TD); (iii) obstructive ventriculomegaly versus no hydraulic complications (20% vs. 91% TD); and (iv) the foetal TVA value and clinical outcome (correlation coefficient = 0.561, p = 0.006).
PATIENTS AND METHODS: Inclusion criteria were prenatal retrocerebellar fluid space diameter > 10 mm, marked opening of the fourth ventricle with a tegmento-vermian angle (TVA) > 40°, and postnatal follow-up > 2 years.
RESULTS: 27 patients were classified as follows: 6 DWM characterized by an overall upward orientation of the tentorium, an open tegmento-tentorial angle (TTA > 78 ) and a high TVA (median 132°); 15 BPC with a normal downward orientation of the proximal part of the tentorium (TTA < 68°) and distal upward displacement (median TVA 74°); 3 PHACE syndromes (Posterior fossa abnormalities, Haemangioma, Arterial cerebrovascular anomalies, Cardiac defects, Eye anomalies) and 3 unclassified. Four prognostic factors were identified, (i) diagnosis: DWM (two deaths, three learning disabilities and one typical development (TD)) versus BPC (five learning disabilities [4/5 with associated malformation or genetic defects] and 10 TD); (ii) associated versus isolated (36% vs. 87% TD); (iii) obstructive ventriculomegaly versus no hydraulic complications (20% vs. 91% TD); and (iv) the foetal TVA value and clinical outcome (correlation coefficient = 0.561, p = 0.006).