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Neuropediatrics 2015; 46(02): 134-138
DOI: 10.1055/s-0034-1399754
Short Communications
Georg Thieme Verlag KG Stuttgart · New York

Bilateral Frontoparietal Polymicrogyria: A Novel GPR56 Mutation and an Unusual Phenotype

Rita Santos-Silva
1   Department of Pediatrics, Hospital de S. João, Porto, Portugal
,
Armanda Passas
1   Department of Pediatrics, Hospital de S. João, Porto, Portugal
,
Carla Rocha
1   Department of Pediatrics, Hospital de S. João, Porto, Portugal
,
Rita Figueiredo
2   Department of Neuroradiology, Hospital de S. João, Porto, Portugal
,
Jose Mendes-Ribeiro
3   Neurophysiology Unit, Department of Neurology, Hospital de S. João, Porto, Portugal
,
Susana Fernandes
4   Department of Genetics, Faculty of Medicine of Oporto, Porto, Portugal
,
Saskia Biskup
5   Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen, Tuebingen, Germany
,
Miguel Leão
6   Pediatric Neurology Unit, Department of Pediatrics, Hospital S. João, Porto, Portugal
7   Department of Genetics, Faculty of Medicine of Oporto, Porto, Portugal
› Author Affiliations
Further Information

Publication History

09 July 2014

25 November 2014

Publication Date:
02 February 2015 (online)

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Abstract

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.

Keywords

GPR56 - bilateral frontoparietal polymicrogyria - hot water epilepsy - neuronal migration disorders
 

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