Prenatal Ultrasound and MRI in the Diagnosis of a Rare Fetal Dysplastic Megalencephaly Caused by AKT1 Gene Variant.

J Clin UltrasoundJul 1, 2026 (epub)
Case ReportObstetrics & GynecologyRadiology (Diagnostic)Medical Genetics

Chunying Li, Xiaoyu Song, Jifang Qian et al.

✦ AI-curated · Sources linked

Case in brief

Prenatal ultrasound and MRI identified progressive fetal macrocephaly with abnormal cortical development, raising concern for dysplastic megalencephaly. Whole-exome sequencing detected a somatic AKT1 c.49G>A variant, confirming the diagnosis. After counseling, the pregnancy was terminated.

What made this case unusual

The prenatal imaging findings were linked to a somatic AKT1 variant, identifying an mTOR pathway disorder as the cause of fetal dysplastic megalencephaly.

Diagnostic / clinical pearl

In suspected fetal dysplastic megalencephaly, ultrasound and MRI findings can be complemented by genetic analysis to establish the diagnosis.

Source

PubMed · PMID 42385199

Published in J Clin Ultrasound. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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