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A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia.
Brain Dev. 2011 Feb; 33(2):174-6.BD

Abstract

Kabuki syndrome is a rare multiple anomaly syndrome characterized by a peculiar face, skeletal and dermatoglyphic anomalies, postnatal growth retardation and mental retardation. We report a case of Kabuki syndrome with unilateral perisylvian cortical dysplasia. This two-year old boy was referred to our hospital at 3-months of age for his growth retardation and muscle hypotonia. Because of his peculiar face, brachydactyly V and fingertip pad, we diagnosed him as having Kabuki syndrome. His MRI revealed cortical dysplasia along the left sylvian fissure. However, neither epileptic seizures nor epileptiform discharges on electroencephalogram were observed. Cortical dysplasia is a relatively rare brain malformation among the central nervous system anomalies accompanying with this syndrome. We have to take into consideration the likely onset of epilepsy in this patient because it is one of the most frequent neurological consequences of cortical dysplasia.

Authors+Show Affiliations

Department of Pediatrics, Shiga University of Medical Science, Japan. yoshioka1974830@yahoo.co.jpNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20444562

Citation

Yoshioka, Seiichiro, et al. "A Japanese Patient With Kabuki Syndrome and Unilateral Perisylvian Cortical Dysplasia." Brain & Development, vol. 33, no. 2, 2011, pp. 174-6.
Yoshioka S, Takano T, Matsuwake K, et al. A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia. Brain Dev. 2011;33(2):174-6.
Yoshioka, S., Takano, T., Matsuwake, K., Sokoda, T., & Takeuchi, Y. (2011). A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia. Brain & Development, 33(2), 174-6. https://doi.org/10.1016/j.braindev.2010.04.001
Yoshioka S, et al. A Japanese Patient With Kabuki Syndrome and Unilateral Perisylvian Cortical Dysplasia. Brain Dev. 2011;33(2):174-6. PubMed PMID: 20444562.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia. AU - Yoshioka,Seiichiro, AU - Takano,Tomoyuki, AU - Matsuwake,Kumiko, AU - Sokoda,Tatsuyuki, AU - Takeuchi,Yoshihiro, Y1 - 2010/05/04/ PY - 2009/04/13/received PY - 2010/03/31/revised PY - 2010/04/02/accepted PY - 2010/5/7/entrez PY - 2010/5/7/pubmed PY - 2011/5/4/medline SP - 174 EP - 6 JF - Brain & development JO - Brain Dev VL - 33 IS - 2 N2 - Kabuki syndrome is a rare multiple anomaly syndrome characterized by a peculiar face, skeletal and dermatoglyphic anomalies, postnatal growth retardation and mental retardation. We report a case of Kabuki syndrome with unilateral perisylvian cortical dysplasia. This two-year old boy was referred to our hospital at 3-months of age for his growth retardation and muscle hypotonia. Because of his peculiar face, brachydactyly V and fingertip pad, we diagnosed him as having Kabuki syndrome. His MRI revealed cortical dysplasia along the left sylvian fissure. However, neither epileptic seizures nor epileptiform discharges on electroencephalogram were observed. Cortical dysplasia is a relatively rare brain malformation among the central nervous system anomalies accompanying with this syndrome. We have to take into consideration the likely onset of epilepsy in this patient because it is one of the most frequent neurological consequences of cortical dysplasia. SN - 1872-7131 UR - https://www.unboundmedicine.com/medline/citation/20444562/A_Japanese_patient_with_Kabuki_syndrome_and_unilateral_perisylvian_cortical_dysplasia_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0387-7604(10)00087-2 DB - PRIME DP - Unbound Medicine ER -