Ghusayni Ryan, Sachdev Monisha, Gallentine William, Mikati Mohamad A, McDonald Marie T
Division of Pediatric Neurology, Department of Pediatrics, Duke University, Durham.
Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, USA.
Epileptic Disord. 2018 Feb 1;20(1):30-34. doi: 10.1684/epd.2018.0954.
Hemimegalencephaly is known to occur in Proteus syndrome, but has not been reported, to our knowledge, in the other PTEN mutation-related syndrome of Bannayan-Riley-Ruvalcaba. Here, we report a patient with Bannayan-Riley-Ruvalcaba syndrome who also had hemimegalencephaly and in whom the hemimegalencephaly was evident well before presentation of the characteristic manifestations of Bannayan-Riley-Ruvalcaba syndrome. An 11-year-old boy developed drug-resistant focal seizures on the fifth day of life. MRI revealed left hemimegalencephaly. He later showed macrocephaly, developmental delay, athetotic quadriplegic cerebral palsy, and neuromuscular scoliosis. Freckling of the penis, which is characteristic of Bannayan-Riley-Ruvalcaba syndrome, was not present at birth but was observed at 9 years of age. Gene analysis revealed a c.510 T>G PTEN mutation. This patient and his other affected family members, his father and two siblings, were started on the tumour screening procedures recommended for patients with PTEN mutations. This case highlights the importance of early screening for PTEN mutations in cases of hemimegalencephaly not otherwise explained by another disorder, even in the absence of signs of Proteus syndrome or the full manifestations of Bannayan-Riley Ruvalcaba syndrome.
已知半侧巨脑畸形可发生于Proteus综合征，但据我们所知，在另一种与PTEN突变相关的Bannayan-Riley-Ruvalcaba综合征中尚未见报道。在此，我们报告1例患有Bannayan-Riley-Ruvalcaba综合征且伴有半侧巨脑畸形的患者，其半侧巨脑畸形在Bannayan-Riley-Ruvalcaba综合征特征性表现出现之前就已很明显。一名11岁男孩在出生后第5天出现耐药性局灶性癫痫发作。MRI显示左侧半侧巨脑畸形。他后来出现巨头畸形、发育迟缓、手足徐动型四肢瘫脑瘫和神经肌肉型脊柱侧弯。阴茎雀斑是Bannayan-Riley-Ruvalcaba综合征的特征性表现，出生时并不存在，而是在9岁时观察到。基因分析显示存在c.510 T>G PTEN突变。该患者及其其他受影响的家庭成员，即他的父亲和两个兄弟姐妹，开始接受针对PTEN突变患者推荐的肿瘤筛查程序。该病例强调了在未由其他疾病解释的半侧巨脑畸形病例中，即使没有Proteus综合征的体征或Bannayan-Riley Ruvalcaba综合征的全部表现，早期筛查PTEN突变的重要性。
