Long-term outcome of epilepsy in Kabuki syndrome
Abstract Purposes and methods Kabuki syndrome (KS) is a rare dysmorphic disorder characterized by multiple congenital anomalies and mental retardation. Although epilepsy is one of the most common clinical complications associated with KS, few studies have evaluated its electroclinical aspects and lo...
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| Veröffentlicht in: | Seizure (London, England) England), 2011-10, Vol.20 (8), p.650-654 |
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| creator | Verrotti, Alberto Agostinelli, Sergio Cirillo, Chiara D’Egidio, Claudia Mohn, Angelika Boncimino, Agata Coppola, Giangennaro Spalice, Alberto Nicita, Francesco Pavone, Piero Gobbi, Giuseppe Grosso, Salvatore Chiarelli, Francesco Savasta, Salvatore |
| description | Abstract Purposes and methods Kabuki syndrome (KS) is a rare dysmorphic disorder characterized by multiple congenital anomalies and mental retardation. Although epilepsy is one of the most common clinical complications associated with KS, few studies have evaluated its electroclinical aspects and long-term outcome. Therefore, we describe here a clinical series of 10 Caucasian KS patients who developed epilepsy in childhood. We followed all children for at least 5 years. Results All patients presented partial seizures and interictal EEGs revealed focal epileptic paroxysms with prevalent involvement of temporo-occipital areas. Seven children had no central nervous system abnormalities, but enlargement of lateral ventricles, corpus callosum hypoplasia, and adenohypophysis hypoplasia were revealed in three. Although antiepileptic drug (AED) treatment was effective in controlling seizures and normalizing EEG abnormalities in 8 patients, the other 2 cases were resistant to multiple AEDs. In one of these two patients, withdrawal of AED resulted in status epilepticus and death. Conclusions Partial seizures and temporo-occipital abnormalities on interictal EEG are common features of KS patients who suffer from epilepsy. Prognosis of this epilepsy is favourable in the majority of cases with complete disappearance of seizures and EEG abnormalities. |
| doi_str_mv | 10.1016/j.seizure.2011.06.005 |
| format | Article |
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Although epilepsy is one of the most common clinical complications associated with KS, few studies have evaluated its electroclinical aspects and long-term outcome. Therefore, we describe here a clinical series of 10 Caucasian KS patients who developed epilepsy in childhood. We followed all children for at least 5 years. Results All patients presented partial seizures and interictal EEGs revealed focal epileptic paroxysms with prevalent involvement of temporo-occipital areas. Seven children had no central nervous system abnormalities, but enlargement of lateral ventricles, corpus callosum hypoplasia, and adenohypophysis hypoplasia were revealed in three. Although antiepileptic drug (AED) treatment was effective in controlling seizures and normalizing EEG abnormalities in 8 patients, the other 2 cases were resistant to multiple AEDs. In one of these two patients, withdrawal of AED resulted in status epilepticus and death. Conclusions Partial seizures and temporo-occipital abnormalities on interictal EEG are common features of KS patients who suffer from epilepsy. Prognosis of this epilepsy is favourable in the majority of cases with complete disappearance of seizures and EEG abnormalities.</description><identifier>ISSN: 1059-1311</identifier><identifier>EISSN: 1532-2688</identifier><identifier>DOI: 10.1016/j.seizure.2011.06.005</identifier><identifier>PMID: 21741276</identifier><language>eng</language><publisher>England: Elsevier Ltd</publisher><subject>Abnormalities, Multiple - diagnosis ; Abnormalities, Multiple - physiopathology ; Antiepileptic drug ; Child ; Electroencephalography - trends ; Epilepsy - complications ; Epilepsy - diagnosis ; Epilepsy - physiopathology ; Face - abnormalities ; Face - physiopathology ; Female ; Hematologic Diseases - complications ; Hematologic Diseases - diagnosis ; Hematologic Diseases - physiopathology ; Humans ; Kabuki Syndrome ; Long-term outcome ; Male ; Neurology ; Partial epilepsy ; Time Factors ; Treatment Outcome ; Vestibular Diseases - complications ; Vestibular Diseases - diagnosis ; Vestibular Diseases - physiopathology</subject><ispartof>Seizure (London, England), 2011-10, Vol.20 (8), p.650-654</ispartof><rights>British Epilepsy Association</rights><rights>2011 British Epilepsy Association</rights><rights>Copyright © 2011 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c532t-7eaea1214b3389c39274f577afa31df471608ae5242589e18c42f4d04909ce363</citedby><cites>FETCH-LOGICAL-c532t-7eaea1214b3389c39274f577afa31df471608ae5242589e18c42f4d04909ce363</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S1059131111001646$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21741276$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Verrotti, Alberto</creatorcontrib><creatorcontrib>Agostinelli, Sergio</creatorcontrib><creatorcontrib>Cirillo, Chiara</creatorcontrib><creatorcontrib>D’Egidio, Claudia</creatorcontrib><creatorcontrib>Mohn, Angelika</creatorcontrib><creatorcontrib>Boncimino, Agata</creatorcontrib><creatorcontrib>Coppola, Giangennaro</creatorcontrib><creatorcontrib>Spalice, Alberto</creatorcontrib><creatorcontrib>Nicita, Francesco</creatorcontrib><creatorcontrib>Pavone, Piero</creatorcontrib><creatorcontrib>Gobbi, Giuseppe</creatorcontrib><creatorcontrib>Grosso, Salvatore</creatorcontrib><creatorcontrib>Chiarelli, Francesco</creatorcontrib><creatorcontrib>Savasta, Salvatore</creatorcontrib><title>Long-term outcome of epilepsy in Kabuki syndrome</title><title>Seizure (London, England)</title><addtitle>Seizure</addtitle><description>Abstract Purposes and methods Kabuki syndrome (KS) is a rare dysmorphic disorder characterized by multiple congenital anomalies and mental retardation. Although epilepsy is one of the most common clinical complications associated with KS, few studies have evaluated its electroclinical aspects and long-term outcome. Therefore, we describe here a clinical series of 10 Caucasian KS patients who developed epilepsy in childhood. We followed all children for at least 5 years. Results All patients presented partial seizures and interictal EEGs revealed focal epileptic paroxysms with prevalent involvement of temporo-occipital areas. Seven children had no central nervous system abnormalities, but enlargement of lateral ventricles, corpus callosum hypoplasia, and adenohypophysis hypoplasia were revealed in three. Although antiepileptic drug (AED) treatment was effective in controlling seizures and normalizing EEG abnormalities in 8 patients, the other 2 cases were resistant to multiple AEDs. In one of these two patients, withdrawal of AED resulted in status epilepticus and death. Conclusions Partial seizures and temporo-occipital abnormalities on interictal EEG are common features of KS patients who suffer from epilepsy. Prognosis of this epilepsy is favourable in the majority of cases with complete disappearance of seizures and EEG abnormalities.</description><subject>Abnormalities, Multiple - diagnosis</subject><subject>Abnormalities, Multiple - physiopathology</subject><subject>Antiepileptic drug</subject><subject>Child</subject><subject>Electroencephalography - trends</subject><subject>Epilepsy - complications</subject><subject>Epilepsy - diagnosis</subject><subject>Epilepsy - physiopathology</subject><subject>Face - abnormalities</subject><subject>Face - physiopathology</subject><subject>Female</subject><subject>Hematologic Diseases - complications</subject><subject>Hematologic Diseases - diagnosis</subject><subject>Hematologic Diseases - physiopathology</subject><subject>Humans</subject><subject>Kabuki Syndrome</subject><subject>Long-term outcome</subject><subject>Male</subject><subject>Neurology</subject><subject>Partial epilepsy</subject><subject>Time Factors</subject><subject>Treatment Outcome</subject><subject>Vestibular Diseases - complications</subject><subject>Vestibular Diseases - diagnosis</subject><subject>Vestibular Diseases - physiopathology</subject><issn>1059-1311</issn><issn>1532-2688</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU1v1EAMhkcIREvhJ4By45Rgz2dyAaGKL3UlDi3n0ezEQbNNMstMUmn59cxqFw5cerIlv35tP2bsNUKDgPrdrskUfq-JGg6IDegGQD1hl6gEr7lu26clB9XVKBAv2IucdwDQSRTP2QVHI5EbfclgE-ef9UJpquK6-DhRFYeK9mGkfT5UYa5u3Ha9D1U-zH0q5Zfs2eDGTK_O8Yr9-Pzp7vprvfn-5dv1x03tywJLbciRQ45yK0TbedFxIwdljBucwH6QBjW0jhSXXLUdYeslH2QPsoPOk9Diir09-e5T_LVSXuwUsqdxdDPFNdu2NUYZrUxRqpPSp5hzosHuU5hcOlgEe2Rld_bMyh5ZWdC2sCp9b84T1u1E_b-uv3CK4MNJQOXOh0DJZh9o9tSHRH6xfQyPjnj_n4Mfwxy8G-_pQHkX1zQXiBZt5hbs7fFhx38hQjGVWvwBQ76QaQ</recordid><startdate>20111001</startdate><enddate>20111001</enddate><creator>Verrotti, Alberto</creator><creator>Agostinelli, Sergio</creator><creator>Cirillo, Chiara</creator><creator>D’Egidio, Claudia</creator><creator>Mohn, Angelika</creator><creator>Boncimino, Agata</creator><creator>Coppola, Giangennaro</creator><creator>Spalice, Alberto</creator><creator>Nicita, Francesco</creator><creator>Pavone, Piero</creator><creator>Gobbi, Giuseppe</creator><creator>Grosso, Salvatore</creator><creator>Chiarelli, Francesco</creator><creator>Savasta, Salvatore</creator><general>Elsevier Ltd</general><scope>6I.</scope><scope>AAFTH</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20111001</creationdate><title>Long-term outcome of epilepsy in Kabuki syndrome</title><author>Verrotti, Alberto ; Agostinelli, Sergio ; Cirillo, Chiara ; D’Egidio, Claudia ; Mohn, Angelika ; Boncimino, Agata ; Coppola, Giangennaro ; Spalice, Alberto ; Nicita, Francesco ; Pavone, Piero ; Gobbi, Giuseppe ; Grosso, Salvatore ; Chiarelli, Francesco ; Savasta, Salvatore</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c532t-7eaea1214b3389c39274f577afa31df471608ae5242589e18c42f4d04909ce363</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Abnormalities, Multiple - diagnosis</topic><topic>Abnormalities, Multiple - physiopathology</topic><topic>Antiepileptic drug</topic><topic>Child</topic><topic>Electroencephalography - trends</topic><topic>Epilepsy - complications</topic><topic>Epilepsy - diagnosis</topic><topic>Epilepsy - physiopathology</topic><topic>Face - abnormalities</topic><topic>Face - physiopathology</topic><topic>Female</topic><topic>Hematologic Diseases - complications</topic><topic>Hematologic Diseases - diagnosis</topic><topic>Hematologic Diseases - physiopathology</topic><topic>Humans</topic><topic>Kabuki Syndrome</topic><topic>Long-term outcome</topic><topic>Male</topic><topic>Neurology</topic><topic>Partial epilepsy</topic><topic>Time Factors</topic><topic>Treatment Outcome</topic><topic>Vestibular Diseases - complications</topic><topic>Vestibular Diseases - diagnosis</topic><topic>Vestibular Diseases - physiopathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Verrotti, Alberto</creatorcontrib><creatorcontrib>Agostinelli, Sergio</creatorcontrib><creatorcontrib>Cirillo, Chiara</creatorcontrib><creatorcontrib>D’Egidio, Claudia</creatorcontrib><creatorcontrib>Mohn, Angelika</creatorcontrib><creatorcontrib>Boncimino, Agata</creatorcontrib><creatorcontrib>Coppola, Giangennaro</creatorcontrib><creatorcontrib>Spalice, Alberto</creatorcontrib><creatorcontrib>Nicita, Francesco</creatorcontrib><creatorcontrib>Pavone, Piero</creatorcontrib><creatorcontrib>Gobbi, Giuseppe</creatorcontrib><creatorcontrib>Grosso, Salvatore</creatorcontrib><creatorcontrib>Chiarelli, Francesco</creatorcontrib><creatorcontrib>Savasta, Salvatore</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Seizure (London, England)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Verrotti, Alberto</au><au>Agostinelli, Sergio</au><au>Cirillo, Chiara</au><au>D’Egidio, Claudia</au><au>Mohn, Angelika</au><au>Boncimino, Agata</au><au>Coppola, Giangennaro</au><au>Spalice, Alberto</au><au>Nicita, Francesco</au><au>Pavone, Piero</au><au>Gobbi, Giuseppe</au><au>Grosso, Salvatore</au><au>Chiarelli, Francesco</au><au>Savasta, Salvatore</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Long-term outcome of epilepsy in Kabuki syndrome</atitle><jtitle>Seizure (London, England)</jtitle><addtitle>Seizure</addtitle><date>2011-10-01</date><risdate>2011</risdate><volume>20</volume><issue>8</issue><spage>650</spage><epage>654</epage><pages>650-654</pages><issn>1059-1311</issn><eissn>1532-2688</eissn><abstract>Abstract Purposes and methods Kabuki syndrome (KS) is a rare dysmorphic disorder characterized by multiple congenital anomalies and mental retardation. Although epilepsy is one of the most common clinical complications associated with KS, few studies have evaluated its electroclinical aspects and long-term outcome. Therefore, we describe here a clinical series of 10 Caucasian KS patients who developed epilepsy in childhood. We followed all children for at least 5 years. Results All patients presented partial seizures and interictal EEGs revealed focal epileptic paroxysms with prevalent involvement of temporo-occipital areas. Seven children had no central nervous system abnormalities, but enlargement of lateral ventricles, corpus callosum hypoplasia, and adenohypophysis hypoplasia were revealed in three. Although antiepileptic drug (AED) treatment was effective in controlling seizures and normalizing EEG abnormalities in 8 patients, the other 2 cases were resistant to multiple AEDs. In one of these two patients, withdrawal of AED resulted in status epilepticus and death. Conclusions Partial seizures and temporo-occipital abnormalities on interictal EEG are common features of KS patients who suffer from epilepsy. Prognosis of this epilepsy is favourable in the majority of cases with complete disappearance of seizures and EEG abnormalities.</abstract><cop>England</cop><pub>Elsevier Ltd</pub><pmid>21741276</pmid><doi>10.1016/j.seizure.2011.06.005</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Abnormalities, Multiple - diagnosis Abnormalities, Multiple - physiopathology Antiepileptic drug Child Electroencephalography - trends Epilepsy - complications Epilepsy - diagnosis Epilepsy - physiopathology Face - abnormalities Face - physiopathology Female Hematologic Diseases - complications Hematologic Diseases - diagnosis Hematologic Diseases - physiopathology Humans Kabuki Syndrome Long-term outcome Male Neurology Partial epilepsy Time Factors Treatment Outcome Vestibular Diseases - complications Vestibular Diseases - diagnosis Vestibular Diseases - physiopathology |
| title | Long-term outcome of epilepsy in Kabuki syndrome |
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