Recognizing genetic association between Lhermitte-Duclos Disease and Autism Spectrum Disorder in PTEN-related patients: a case report and literature comprehension.
Mladenka Vukojevic, Goran Lakicevic, Branka Bunoza et al.
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Case in brief
A mother diagnosed with Lhermitte-Duclos disease (LDD) associated with PTEN Hamartoma Tumor Syndrome (PHTS) presented alongside her 14-year-old daughter, who was diagnosed with autism spectrum disorder (ASD). Genetic testing revealed both had the same pathogenic PTEN mutation. The mother showed no tumor recurrence after partial resection and achieved full neurological recovery, emphasizing the need for genetic screening in such families.
Diagnostic / clinical pearl
Clinicians should consider genetic testing for PTEN mutations in families with LDD and ASD, as these conditions may be linked through a shared genetic etiology.
Why it matters
Understanding the genetic association between LDD and ASD can guide screening and management strategies for affected families, potentially improving outcomes through early intervention.