Belgian Journal of Paediatrics
Case Report of Dual Diagnosis of Chronic Intervillositis and Helsmoortel-Van der Aa Syndrome in an Infant with Intrauterine Growth Restriction and Premature Birth
Vol. 28 No. 1 (2026), Case reports
Vol. 28 No. 1 (2026)

Case Report of Dual Diagnosis of Chronic Intervillositis and Helsmoortel-Van der Aa Syndrome in an Infant with Intrauterine Growth Restriction and Premature Birth

Case reports
Published 2026-04-24
Verónica Carvalho
Department of Pediatrics, Hôpital Universitaire Des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles, Université libre de Bruxelles, Brussels, Belgium
https://orcid.org/0000-0002-8581-7399
Sebastian Neuens
Department of Genetics, Hôpital Universitaire Des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles, Université libre de Bruxelles, Brussels, Belgium
Marie Lucie Racu
Anatomopathology Department, CHU Brugmann, Brussels, Belgium
Julie Soblet
1. Department of Genetics, Hôpital Universitaire Des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles, Université libre de Bruxelles ; 2. Center for Human Genetics, Hôpital Universitaire de Bruxelles, Université libre de Bruxelles, Brussels, Belgium
https://orcid.org/0000-0002-3732-2498
Sophie Lecomte
CHU Brugmann, Department of Anatomopathology, Brussels, Belgium.
https://orcid.org/0000-0002-8275-2761
Aline Vuckovic
Neonatal Intensive Care Unit, Hôpital Universitaire Des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles, Université libre de Bruxelles, Brussels, Belgium
Catheline Vilain
Department of Genetics, Hôpital Universitaire Des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles, Université libre de Bruxelles, Brussels, Belgium
https://orcid.org/0009-0003-2959-659X
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Keywords

Activity-Dependent Neuroprotective Protein
Helsmoortel-Van der Aa Syndrome
premature birth
chronic intervillositis of unknown etiology
whole exome sequencing

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How to Cite

Carvalho, V., Neuens, S., Racu, M. L., Soblet, J., Lecomte, S., Vuckovic, A., & Vilain, C. (2026). Case Report of Dual Diagnosis of Chronic Intervillositis and Helsmoortel-Van der Aa Syndrome in an Infant with Intrauterine Growth Restriction and Premature Birth. Belgian Journal of Paediatrics, 28(1), 76–78. Retrieved from https://belgjpaediatrics.com/index.php/bjp/article/view/363
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Abstract

Chronic intervillositis of unknown etiology (CIUE) is a rare placental pathology associated with intrauterine growth restriction. Helsmoortel-Van der Aa syndrome (HVDAS) is a neurodevelopmental disorder caused by heterozygous mutations in the Activity-Dependent Neuroprotective Protein (ADNP) gene.

We describe an extreme preterm infant born due to CIUE, presenting with proportionate microcephaly, facial dysmorphism, failure to thrive, and neurodevelopmental delay. Whole-exome sequencing (WES) identified a pathogenic variant in the ADNP gene.

Our findings suggest that the dual diagnosis of CIUE and HVDAS contributed to the proband’s clinical presentation. This case highlights the importance of WES in evaluating complex neonatal phenotypes.

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