Santos-Silva Rita, Passas Armanda, Rocha Carla, Figueiredo Rita, Mendes-Ribeiro Jose, Fernandes Susana, Biskup Saskia, Leão Miguel
Department of Pediatrics, Hospital de S. João, Porto, Portugal.
Department of Neuroradiology, Hospital de S. João, Porto, Portugal.
Neuropediatrics. 2015 Apr;46(2):134-8. doi: 10.1055/s-0034-1399754. Epub 2015 Feb 2.
Loss of function of GPR56 causes a specific brain malformation called the bilateral frontoparietal polymicrogyria (BFPP), which has typical clinical and neuroradiological findings. So far, 35 families and 26 independent mutations have been described.We present a Portuguese 5-year-old boy, born from nonconsanguineous parents, with BFPP. This patient has a novel GPR56 mutation (R271X) and an unusual phenotype, because he presents hot water epilepsy.To the best of our knowledge, this is the first reported case of BFPP evolving hot water epilepsy.
GPR56功能丧失会导致一种名为双侧额顶叶多小脑回（BFPP）的特定脑畸形，其具有典型的临床和神经放射学表现。到目前为止，已描述了35个家系和26个独立突变。我们报告一名来自非近亲父母的5岁葡萄牙男孩，患有BFPP。该患者有一个新的GPR56突变（R271X）和不寻常的表型，因为他出现了热水诱发的癫痫。据我们所知，这是首例报道的伴有热水诱发癫痫的BFPP病例。
