Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome

Kabuki syndrome is a dysmorphogenic syndrome which has been reported in over 300 patients since it was first described in Japan in 1981. In addition to its cardinal features (typical facies, mild‐to‐moderate learning disability, short stature, skeletal anomalies, and dermatoglyphic abnormalities with persistent foetal fingerpads), neurological anomalies are frequently reported, including epilepsy in 8% of those with the syndrome. We present here a 22‐year‐old white female patient with refractory partial epilepsy, Kabuki syndrome, and bilateral perisylvian polymicrogyria on MRI: the first reported case of this association. The aetiology of the syndrome, including the diverse genetic changes recognized, is then discussed.

[1]  N. Niikawa,et al.  Kabuki make‐up syndrome: A review , 2003, American journal of medical genetics. Part C, Seminars in medical genetics.

[2]  V. Shotelersuk,et al.  Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation. , 2002, American journal of medical genetics.

[3]  P. Willems,et al.  Kabuki syndrome: a review study of three hundred patients. , 2002, Clinical Dysmorphology.

[4]  F. Bartolomei,et al.  Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment , 2000, Annals of neurology.

[5]  Golder N Wilson,et al.  Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management. , 1998, American journal of medical genetics.

[6]  R. Kuzniecky,et al.  The epileptic spectrum in the congenital bilateral perisylvian syndrome , 1994, Neurology.

[7]  J. Opitz,et al.  Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. , 1988, American journal of medical genetics.

[8]  Y. Fukushima,et al.  Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. , 1981, The Journal of pediatrics.

[9]  Y. Kuroki,et al.  A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. , 1981, The Journal of pediatrics.

[10]  Stéphane Moniotte,et al.  Polymicrogyria in chromosome 22q11 deletion syndrome. , 2002, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.