ArticleCureus2026
A Novel PTEN Frameshift Variant in a Child With Autism Spectrum Disorder and Macrocephaly: A Case Report.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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9 authors.
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Abstract
PTEN hamartoma tumor syndrome (PHTS) is a rare genetic condition associated with neurodevelopmental disorders, macrocephaly, and increased cancer risk. We report the case of a four-year-old girl with congenital hypothyroidism, progressive macrocephaly, and global developmental delay, later diagnosed with autism spectrum disorder (ASD). Brain MRI revealed megalencephaly with prominent extra-axial spaces and a diffusely thickened corpus callosum. Genetic testing identified a novel frameshift variant in the
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