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Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.

Publication ,  Journal Article
Ghusayni, R; Sachdev, M; Gallentine, W; Mikati, MA; McDonald, MT
Published in: Epileptic Disord
February 1, 2018

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.

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Published In

Epileptic Disord

DOI

EISSN

1950-6945

Publication Date

February 1, 2018

Volume

20

Issue

1

Start / End Page

30 / 34

Location

United States

Related Subject Headings

  • Pedigree
  • PTEN Phosphohydrolase
  • Neurology & Neurosurgery
  • Mutation
  • Male
  • Humans
  • Hemimegalencephaly
  • Hamartoma Syndrome, Multiple
  • Child
  • 3209 Neurosciences
 

Citation

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MLA
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Ghusayni, R., Sachdev, M., Gallentine, W., Mikati, M. A., & McDonald, M. T. (2018). Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome. Epileptic Disord, 20(1), 30–34. https://doi.org/10.1684/epd.2018.0954
Ghusayni, Ryan, Monisha Sachdev, William Gallentine, Mohamad A. Mikati, and Marie T. McDonald. “Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.Epileptic Disord 20, no. 1 (February 1, 2018): 30–34. https://doi.org/10.1684/epd.2018.0954.
Ghusayni R, Sachdev M, Gallentine W, Mikati MA, McDonald MT. Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome. Epileptic Disord. 2018 Feb 1;20(1):30–4.
Ghusayni, Ryan, et al. “Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.Epileptic Disord, vol. 20, no. 1, Feb. 2018, pp. 30–34. Pubmed, doi:10.1684/epd.2018.0954.
Ghusayni R, Sachdev M, Gallentine W, Mikati MA, McDonald MT. Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome. Epileptic Disord. 2018 Feb 1;20(1):30–34.
Journal cover image

Published In

Epileptic Disord

DOI

EISSN

1950-6945

Publication Date

February 1, 2018

Volume

20

Issue

1

Start / End Page

30 / 34

Location

United States

Related Subject Headings

  • Pedigree
  • PTEN Phosphohydrolase
  • Neurology & Neurosurgery
  • Mutation
  • Male
  • Humans
  • Hemimegalencephaly
  • Hamartoma Syndrome, Multiple
  • Child
  • 3209 Neurosciences