Seizures in Chédiak-Higashi syndrome: case report Crises convulsivas na síndrome de Chédiak-Higashi: relato de caso
Chédiak-Higashi syndrome is a rare hematological disease characterized by increased fusion of cytoplasmatic granules. Neurological symptoms occur in approximately half of the patients. We describe the clinical, eletrophysiological, hematological and radiological findings in a girl who had Chédiak-Hi...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Academia Brasileira de Neurologia (ABNEURO)
1999-06-01
|
| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000300024 |
| id |
doaj-0ca3acc7c9e34f70ad620f02e4162864 |
|---|---|
| record_format |
Article |
| spelling |
doaj-0ca3acc7c9e34f70ad620f02e41628642020-11-25T02:38:40ZengAcademia Brasileira de Neurologia (ABNEURO)Arquivos de Neuro-Psiquiatria0004-282X1678-42271999-06-01572B49549710.1590/S0004-282X1999000300024Seizures in Chédiak-Higashi syndrome: case report Crises convulsivas na síndrome de Chédiak-Higashi: relato de casoGABRIEL R. DE FREITASCLARISSA P. DE OLIVEIRAROGÉRIO S. REISMARIA ROSA SARMENTONEIDE K. GASPARMARIANA FIALHOHERBERT PRAXEDESChédiak-Higashi syndrome is a rare hematological disease characterized by increased fusion of cytoplasmatic granules. Neurological symptoms occur in approximately half of the patients. We describe the clinical, eletrophysiological, hematological and radiological findings in a girl who had Chédiak-Higashi syndrome and seizures.<br>A síndrome de Chédiak-Higashi é uma doença hematológica rara caracterizada pelo aumento da fusão dos grânulos citoplasmáticos. Manifestações neurológicas ocorrem em cerca de metade dos pacientes. Relatamos o caso de uma criança com síndrome de Chédiak-Higashi e crises convulsivas.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000300024síndrome de Chédiak-Higashiepilepsiaressonância nuclear magnéticaChédiak-Higashi syndromeseizuresMRI |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
GABRIEL R. DE FREITAS CLARISSA P. DE OLIVEIRA ROGÉRIO S. REIS MARIA ROSA SARMENTO NEIDE K. GASPAR MARIANA FIALHO HERBERT PRAXEDES |
| spellingShingle |
GABRIEL R. DE FREITAS CLARISSA P. DE OLIVEIRA ROGÉRIO S. REIS MARIA ROSA SARMENTO NEIDE K. GASPAR MARIANA FIALHO HERBERT PRAXEDES Seizures in Chédiak-Higashi syndrome: case report Crises convulsivas na síndrome de Chédiak-Higashi: relato de caso Arquivos de Neuro-Psiquiatria síndrome de Chédiak-Higashi epilepsia ressonância nuclear magnética Chédiak-Higashi syndrome seizures MRI |
| author_facet |
GABRIEL R. DE FREITAS CLARISSA P. DE OLIVEIRA ROGÉRIO S. REIS MARIA ROSA SARMENTO NEIDE K. GASPAR MARIANA FIALHO HERBERT PRAXEDES |
| author_sort |
GABRIEL R. DE FREITAS |
| title |
Seizures in Chédiak-Higashi syndrome: case report Crises convulsivas na síndrome de Chédiak-Higashi: relato de caso |
| title_short |
Seizures in Chédiak-Higashi syndrome: case report Crises convulsivas na síndrome de Chédiak-Higashi: relato de caso |
| title_full |
Seizures in Chédiak-Higashi syndrome: case report Crises convulsivas na síndrome de Chédiak-Higashi: relato de caso |
| title_fullStr |
Seizures in Chédiak-Higashi syndrome: case report Crises convulsivas na síndrome de Chédiak-Higashi: relato de caso |
| title_full_unstemmed |
Seizures in Chédiak-Higashi syndrome: case report Crises convulsivas na síndrome de Chédiak-Higashi: relato de caso |
| title_sort |
seizures in chédiak-higashi syndrome: case report crises convulsivas na síndrome de chédiak-higashi: relato de caso |
| publisher |
Academia Brasileira de Neurologia (ABNEURO) |
| series |
Arquivos de Neuro-Psiquiatria |
| issn |
0004-282X 1678-4227 |
| publishDate |
1999-06-01 |
| description |
Chédiak-Higashi syndrome is a rare hematological disease characterized by increased fusion of cytoplasmatic granules. Neurological symptoms occur in approximately half of the patients. We describe the clinical, eletrophysiological, hematological and radiological findings in a girl who had Chédiak-Higashi syndrome and seizures.<br>A síndrome de Chédiak-Higashi é uma doença hematológica rara caracterizada pelo aumento da fusão dos grânulos citoplasmáticos. Manifestações neurológicas ocorrem em cerca de metade dos pacientes. Relatamos o caso de uma criança com síndrome de Chédiak-Higashi e crises convulsivas. |
| topic |
síndrome de Chédiak-Higashi epilepsia ressonância nuclear magnética Chédiak-Higashi syndrome seizures MRI |
| url |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000300024 |
| work_keys_str_mv |
AT gabrielrdefreitas seizuresinchediakhigashisyndromecasereportcrisesconvulsivasnasindromedechediakhigashirelatodecaso AT clarissapdeoliveira seizuresinchediakhigashisyndromecasereportcrisesconvulsivasnasindromedechediakhigashirelatodecaso AT rogeriosreis seizuresinchediakhigashisyndromecasereportcrisesconvulsivasnasindromedechediakhigashirelatodecaso AT mariarosasarmento seizuresinchediakhigashisyndromecasereportcrisesconvulsivasnasindromedechediakhigashirelatodecaso AT neidekgaspar seizuresinchediakhigashisyndromecasereportcrisesconvulsivasnasindromedechediakhigashirelatodecaso AT marianafialho seizuresinchediakhigashisyndromecasereportcrisesconvulsivasnasindromedechediakhigashirelatodecaso AT herbertpraxedes seizuresinchediakhigashisyndromecasereportcrisesconvulsivasnasindromedechediakhigashirelatodecaso |
| _version_ |
1724790328687329280 |