Clinical presentation of PTEN mutations

We describe the case of a 6-year-old girl who presented with  macrocephaly and multiple lipomatous lesions. She was the fifth child of nonconsanguineous parents of Pakistani origin with no significant family history. At birth, her head circumference was above the 97th percentile and she had normal body weight and length. Brain scans showed normal results. Sh e also displayed regular psychomotor development. At the age of 3 years, she developed left tibial swelling accompanied by pain and limping, but there was neither fever nor changes in the levels of inflammatory markers.
Source: Pediatrics and Neonatology - Category: Perinatology & Neonatology Authors: Tags: Images Source Type: research