Article
Recognizing genetic association between Lhermitte-Duclos Disease and Autism Spectrum Disorder in PTEN-related patients: a case report and literature comprehension.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 12 Sept 2026
Vukojevic Mladenka, Lakicevic Goran, Bunoza Branka, Lakicevic Sandra, Jakovcevic Antonia, Frol Senta, Splavski Bruno
Abstract excerpt
BACKGROUND: PTEN Hamartoma Tumor Syndrome (PHTS) is a rare autosomal dominant disorder that increases the risk of various tumors and systemic malignancies, including Lhermitte-Duclos disease (LDD), known as dysplastic cerebellar gangliocytoma. Both conditions result from a PTEN gene mutation, which disrupts cellular growth and proliferation. Some children with such a mutation exhibit developmental delay or autism...
Read the complete abstract on PubMedTopics
- Humans
- Hamartoma Syndrome, Multiple
- Female
- PTEN Phosphohydrolase
- Autism Spectrum Disorder