Case report of a girl with PTEN hamartoma tumor syndrome

We present the case of a three-year-old girl with a clinical combination of macrocephaly and neurodevelopmental delay. Her developmental delay was moderate. Whole exome sequencing revealed a pathogenic germline variant in PTEN and the diagnosis of PTEN hamartoma tumor syndrome. At the time of the examination, apart from macrocephaly and developmental disorder, she showed no other signs of PTEN hamartoma tumor syndrome.
After the PTEN hamartoma tumour syndrome was diagnosed, the recommended screening programme for affected individuals was initiated.