Cerebellar vermis hypoplasia - non progressive congenital ataxia: clinical and radiological findings in a pair of siblings
We describe the clinical and radiological findings of a pair of siblings with cerebellar vermis hypoplasia and compare them with the literature. Both of them present pregnancies and deliveries uneventful and both presented some grade of hypotonia, ataxia, ocular motor abnormalities and mild motor delay and slurred speech. These siblings meet many of the criteria described in non-progressive congenital ataxia in which can occur familial cases with cerebellar atrophy, including vermis hypoplasia. As differential diagnosis we compare them with related syndromes and with Joubert's syndrome which main radiological finding on MRI is vermis hypoplasia associated with "molar tooth" appearance. The correct answer for these cases will only be possible by molecular genetics.
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Academia Brasileira de Neurologia - ABNEURO
2000
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oai:scielo:S0004-282X20000005000162000-12-06Cerebellar vermis hypoplasia - non progressive congenital ataxia: clinical and radiological findings in a pair of siblingsBRUCK,ISACANTONIUK,SÉRGIO A.CARVALHO NETO,ARNOLFO DESPESSATTO,ADRIANE non-progressive congenital ataxia cerebellar vermis hypoplasia ocular motor abnormalities We describe the clinical and radiological findings of a pair of siblings with cerebellar vermis hypoplasia and compare them with the literature. Both of them present pregnancies and deliveries uneventful and both presented some grade of hypotonia, ataxia, ocular motor abnormalities and mild motor delay and slurred speech. These siblings meet many of the criteria described in non-progressive congenital ataxia in which can occur familial cases with cerebellar atrophy, including vermis hypoplasia. As differential diagnosis we compare them with related syndromes and with Joubert's syndrome which main radiological finding on MRI is vermis hypoplasia associated with "molar tooth" appearance. The correct answer for these cases will only be possible by molecular genetics.info:eu-repo/semantics/openAccessAcademia Brasileira de Neurologia - ABNEUROArquivos de Neuro-Psiquiatria v.58 n.3B 20002000-09-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2000000500016en10.1590/S0004-282X2000000500016 |
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BRUCK,ISAC ANTONIUK,SÉRGIO A. CARVALHO NETO,ARNOLFO DE SPESSATTO,ADRIANE |
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BRUCK,ISAC ANTONIUK,SÉRGIO A. CARVALHO NETO,ARNOLFO DE SPESSATTO,ADRIANE Cerebellar vermis hypoplasia - non progressive congenital ataxia: clinical and radiological findings in a pair of siblings |
| author_facet |
BRUCK,ISAC ANTONIUK,SÉRGIO A. CARVALHO NETO,ARNOLFO DE SPESSATTO,ADRIANE |
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BRUCK,ISAC |
| title |
Cerebellar vermis hypoplasia - non progressive congenital ataxia: clinical and radiological findings in a pair of siblings |
| title_short |
Cerebellar vermis hypoplasia - non progressive congenital ataxia: clinical and radiological findings in a pair of siblings |
| title_full |
Cerebellar vermis hypoplasia - non progressive congenital ataxia: clinical and radiological findings in a pair of siblings |
| title_fullStr |
Cerebellar vermis hypoplasia - non progressive congenital ataxia: clinical and radiological findings in a pair of siblings |
| title_full_unstemmed |
Cerebellar vermis hypoplasia - non progressive congenital ataxia: clinical and radiological findings in a pair of siblings |
| title_sort |
cerebellar vermis hypoplasia - non progressive congenital ataxia: clinical and radiological findings in a pair of siblings |
| description |
We describe the clinical and radiological findings of a pair of siblings with cerebellar vermis hypoplasia and compare them with the literature. Both of them present pregnancies and deliveries uneventful and both presented some grade of hypotonia, ataxia, ocular motor abnormalities and mild motor delay and slurred speech. These siblings meet many of the criteria described in non-progressive congenital ataxia in which can occur familial cases with cerebellar atrophy, including vermis hypoplasia. As differential diagnosis we compare them with related syndromes and with Joubert's syndrome which main radiological finding on MRI is vermis hypoplasia associated with "molar tooth" appearance. The correct answer for these cases will only be possible by molecular genetics. |
| publisher |
Academia Brasileira de Neurologia - ABNEURO |
| publishDate |
2000 |
| url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2000000500016 |
| work_keys_str_mv |
AT bruckisac cerebellarvermishypoplasianonprogressivecongenitalataxiaclinicalandradiologicalfindingsinapairofsiblings AT antoniuksergioa cerebellarvermishypoplasianonprogressivecongenitalataxiaclinicalandradiologicalfindingsinapairofsiblings AT carvalhonetoarnolfode cerebellarvermishypoplasianonprogressivecongenitalataxiaclinicalandradiologicalfindingsinapairofsiblings AT spessattoadriane cerebellarvermishypoplasianonprogressivecongenitalataxiaclinicalandradiologicalfindingsinapairofsiblings |
| _version_ |
1756374154962010112 |