Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder

Gerarda Cappuccio, Marianna Alagia, Mariangela D'Anna, Carlotta Ranieri, Silvia Di Tommaso, Claudio Bruno, Chiara Fiorillo, Marina Pedemonte, Daria Loconte, Roberto Della Casa, Pietro Strisciuglio, Maria Isabella Ginocchio, Michele Pinelli, Nicoletta Resta, Nicola Brunetti-Pierri

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Post-zygotic activating mutations in PIK3CA and other genes encoding members of PI3K-AKT-mTOR pathway have been found in various overgrowth syndromes that have been grouped together as PIK3CA-related overgrowth spectrum (PROS). We report a female patient with gait disturbance, leg pain, isolated macrodactyly of the foot, and mild intellectual disability. Imaging of the lower limb showed a lipoblastoma of the right thigh. A mosaic gain-of-function mutation in the catalytic domain of PIK3CA (c.3140 A > G; p.His1047Arg) was detected in the adipose tissue and in skin cultured fibroblasts from the macrodactyly but not in blood. The leg pain and the severe walking disturbance improved slightly over time and serial MRI of the lower limbs suggested that the size of the lipoblastoma relative to the lower limb muscles or to the whole lower limb was unchanged as consequence of limb growth. This case report illustrates that pain and gait disturbance can be features of PROS and highlights the need of better knowledge about the natural history of the disease.

Original languageEnglish
Pages (from-to)655-657
Number of pages3
JournalEuropean Journal of Medical Genetics
Issue number12
Publication statusPublished - Dec 2017


  • Journal Article


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