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Hemimegalencephaly with Bannayan‐Riley‐Ruvalcaba syndrome
Author(s) -
Ghusayni Ryan,
Sachdev Monisha,
Gallentine William,
Mikati Mohamad A,
McDonald Marie T
Publication year - 2018
Publication title -
epileptic disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.673
H-Index - 53
eISSN - 1950-6945
pISSN - 1294-9361
DOI - 10.1684/epd.2018.0954
Subject(s) - hemimegalencephaly , macrocephaly , pten , medicine , proteus syndrome , megalencephaly , pediatrics , dermatology , epilepsy , cortical dysplasia , genetics , pathology , biology , psychiatry , apoptosis , pi3k/akt/mtor pathway
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.