John Libbey Eurotext

Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome Volume 20, numéro 1, February 2018


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1 Division of Pediatric Neurology, Department of Pediatrics, Duke University, Durham
2 Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, USA
* Correspondence: Mohamad A Mikati Department of Pediatrics, Division of Neurology, Duke University Medical Center, Suite T0913J, Children Health Center 2301, Erwin Road, Durham, NC 27710, USA
a Authors contributed equally

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.