Neurosurgical management of Walker-Warburg syndrome
Martínez-Lage, J. F. ; Poza, M. ; García Santos, J. M. ; Puche, A. ; Casas, C. ; Costa, T. Rodriguez
Springer
Published 1995
Springer
Published 1995
| ISSN: |
1433-0350
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|---|---|
| Keywords: |
Agyria ; Encephalocele ; Cerebal malformation ; Cerebro-oculomuscular syndrome ; Dandy-Walker malformation ; Hydrocephalus ; Lissencephaly ; Walker-Warburg syndrome
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| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Medicine
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| Notes: |
Abstract The Walker-Warburg syndrome (WWS) is a lethal complex of the central nervous system and the eyes. At present its cause is unknown, but clinical evidence strongly suggests that it is an autosomalrecessively inherited disorder. We report a series of nine children with WWS. The diagnosis was established by the detection of lissencephaly, hydrocephalus, and cerebellar malformation on computed tomography. All children exhibited profound psychomotor retardation and ocular abnormalities (in their anterior or posterior eye chambers). The existence of an occipital encephalocele in eight cases was the main diagnostic clue to WWS. Six patients were investigated for the presence of congenital muscular dystrophy, which was confirmed in only four of them. There were no patients with a cleft lip or palate. We studied the incidence of WWS in Spain and estimated it at 0.21 cases per 10 000 live-born children. In our series, WWS was prevalent in the Spanish gypsy population. Consanguinity was present in five of seven affected families. In a case of preganancy with twins, one of the siblings was unaffected. Eight patients were treated with ventriculoperitoneal shunts and seven underwent encephalocele repair. Histological study of the excised encephaloceles demonstrated two different patterns. Interestingly, one of the infants showed coronal craniosynostosis. Finally, we include in the appendix, for completeness, a report of the case of the sibling of a WWS patient with acrania-exencephaly.
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| Type of Medium: |
Electronic Resource
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| URL: |
| _version_ | 1798296023434526720 |
|---|---|
| autor | Martínez-Lage, J. F. Poza, M. García Santos, J. M. Puche, A. Casas, C. Costa, T. Rodriguez |
| autorsonst | Martínez-Lage, J. F. Poza, M. García Santos, J. M. Puche, A. Casas, C. Costa, T. Rodriguez |
| book_url | http://dx.doi.org/10.1007/BF00570255 |
| datenlieferant | nat_lic_papers |
| hauptsatz | hsatz_simple |
| identnr | NLM203479777 |
| iqvoc_descriptor_title | iqvoc_00000119:management |
| issn | 1433-0350 |
| journal_name | Child's nervous system |
| materialart | 1 |
| notes | Abstract The Walker-Warburg syndrome (WWS) is a lethal complex of the central nervous system and the eyes. At present its cause is unknown, but clinical evidence strongly suggests that it is an autosomalrecessively inherited disorder. We report a series of nine children with WWS. The diagnosis was established by the detection of lissencephaly, hydrocephalus, and cerebellar malformation on computed tomography. All children exhibited profound psychomotor retardation and ocular abnormalities (in their anterior or posterior eye chambers). The existence of an occipital encephalocele in eight cases was the main diagnostic clue to WWS. Six patients were investigated for the presence of congenital muscular dystrophy, which was confirmed in only four of them. There were no patients with a cleft lip or palate. We studied the incidence of WWS in Spain and estimated it at 0.21 cases per 10 000 live-born children. In our series, WWS was prevalent in the Spanish gypsy population. Consanguinity was present in five of seven affected families. In a case of preganancy with twins, one of the siblings was unaffected. Eight patients were treated with ventriculoperitoneal shunts and seven underwent encephalocele repair. Histological study of the excised encephaloceles demonstrated two different patterns. Interestingly, one of the infants showed coronal craniosynostosis. Finally, we include in the appendix, for completeness, a report of the case of the sibling of a WWS patient with acrania-exencephaly. |
| package_name | Springer |
| publikationsjahr_anzeige | 1995 |
| publikationsjahr_facette | 1995 |
| publikationsjahr_intervall | 8004:1995-1999 |
| publikationsjahr_sort | 1995 |
| publisher | Springer |
| reference | 11 (1995), S. 145-153 |
| schlagwort | Agyria Encephalocele Cerebal malformation Cerebro-oculomuscular syndrome Dandy-Walker malformation Hydrocephalus Lissencephaly Walker-Warburg syndrome |
| search_space | articles |
| shingle_author_1 | Martínez-Lage, J. F. Poza, M. García Santos, J. M. Puche, A. Casas, C. Costa, T. Rodriguez |
| shingle_author_2 | Martínez-Lage, J. F. Poza, M. García Santos, J. M. Puche, A. Casas, C. Costa, T. Rodriguez |
| shingle_author_3 | Martínez-Lage, J. F. Poza, M. García Santos, J. M. Puche, A. Casas, C. Costa, T. Rodriguez |
| shingle_author_4 | Martínez-Lage, J. F. Poza, M. García Santos, J. M. Puche, A. Casas, C. Costa, T. Rodriguez |
| shingle_catch_all_1 | Martínez-Lage, J. F. Poza, M. García Santos, J. M. Puche, A. Casas, C. Costa, T. Rodriguez Neurosurgical management of Walker-Warburg syndrome Agyria Encephalocele Cerebal malformation Cerebro-oculomuscular syndrome Dandy-Walker malformation Hydrocephalus Lissencephaly Walker-Warburg syndrome Agyria Encephalocele Cerebal malformation Cerebro-oculomuscular syndrome Dandy-Walker malformation Hydrocephalus Lissencephaly Walker-Warburg syndrome Abstract The Walker-Warburg syndrome (WWS) is a lethal complex of the central nervous system and the eyes. At present its cause is unknown, but clinical evidence strongly suggests that it is an autosomalrecessively inherited disorder. We report a series of nine children with WWS. The diagnosis was established by the detection of lissencephaly, hydrocephalus, and cerebellar malformation on computed tomography. All children exhibited profound psychomotor retardation and ocular abnormalities (in their anterior or posterior eye chambers). The existence of an occipital encephalocele in eight cases was the main diagnostic clue to WWS. Six patients were investigated for the presence of congenital muscular dystrophy, which was confirmed in only four of them. There were no patients with a cleft lip or palate. We studied the incidence of WWS in Spain and estimated it at 0.21 cases per 10 000 live-born children. In our series, WWS was prevalent in the Spanish gypsy population. Consanguinity was present in five of seven affected families. In a case of preganancy with twins, one of the siblings was unaffected. Eight patients were treated with ventriculoperitoneal shunts and seven underwent encephalocele repair. Histological study of the excised encephaloceles demonstrated two different patterns. Interestingly, one of the infants showed coronal craniosynostosis. Finally, we include in the appendix, for completeness, a report of the case of the sibling of a WWS patient with acrania-exencephaly. 1433-0350 14330350 Springer |
| shingle_catch_all_2 | Martínez-Lage, J. F. Poza, M. García Santos, J. M. Puche, A. Casas, C. Costa, T. Rodriguez Neurosurgical management of Walker-Warburg syndrome Agyria Encephalocele Cerebal malformation Cerebro-oculomuscular syndrome Dandy-Walker malformation Hydrocephalus Lissencephaly Walker-Warburg syndrome Agyria Encephalocele Cerebal malformation Cerebro-oculomuscular syndrome Dandy-Walker malformation Hydrocephalus Lissencephaly Walker-Warburg syndrome Abstract The Walker-Warburg syndrome (WWS) is a lethal complex of the central nervous system and the eyes. At present its cause is unknown, but clinical evidence strongly suggests that it is an autosomalrecessively inherited disorder. We report a series of nine children with WWS. The diagnosis was established by the detection of lissencephaly, hydrocephalus, and cerebellar malformation on computed tomography. All children exhibited profound psychomotor retardation and ocular abnormalities (in their anterior or posterior eye chambers). The existence of an occipital encephalocele in eight cases was the main diagnostic clue to WWS. Six patients were investigated for the presence of congenital muscular dystrophy, which was confirmed in only four of them. There were no patients with a cleft lip or palate. We studied the incidence of WWS in Spain and estimated it at 0.21 cases per 10 000 live-born children. In our series, WWS was prevalent in the Spanish gypsy population. Consanguinity was present in five of seven affected families. In a case of preganancy with twins, one of the siblings was unaffected. Eight patients were treated with ventriculoperitoneal shunts and seven underwent encephalocele repair. Histological study of the excised encephaloceles demonstrated two different patterns. Interestingly, one of the infants showed coronal craniosynostosis. Finally, we include in the appendix, for completeness, a report of the case of the sibling of a WWS patient with acrania-exencephaly. 1433-0350 14330350 Springer |
| shingle_catch_all_3 | Martínez-Lage, J. F. Poza, M. García Santos, J. M. Puche, A. Casas, C. Costa, T. Rodriguez Neurosurgical management of Walker-Warburg syndrome Agyria Encephalocele Cerebal malformation Cerebro-oculomuscular syndrome Dandy-Walker malformation Hydrocephalus Lissencephaly Walker-Warburg syndrome Agyria Encephalocele Cerebal malformation Cerebro-oculomuscular syndrome Dandy-Walker malformation Hydrocephalus Lissencephaly Walker-Warburg syndrome Abstract The Walker-Warburg syndrome (WWS) is a lethal complex of the central nervous system and the eyes. At present its cause is unknown, but clinical evidence strongly suggests that it is an autosomalrecessively inherited disorder. We report a series of nine children with WWS. The diagnosis was established by the detection of lissencephaly, hydrocephalus, and cerebellar malformation on computed tomography. All children exhibited profound psychomotor retardation and ocular abnormalities (in their anterior or posterior eye chambers). The existence of an occipital encephalocele in eight cases was the main diagnostic clue to WWS. Six patients were investigated for the presence of congenital muscular dystrophy, which was confirmed in only four of them. There were no patients with a cleft lip or palate. We studied the incidence of WWS in Spain and estimated it at 0.21 cases per 10 000 live-born children. In our series, WWS was prevalent in the Spanish gypsy population. Consanguinity was present in five of seven affected families. In a case of preganancy with twins, one of the siblings was unaffected. Eight patients were treated with ventriculoperitoneal shunts and seven underwent encephalocele repair. Histological study of the excised encephaloceles demonstrated two different patterns. Interestingly, one of the infants showed coronal craniosynostosis. Finally, we include in the appendix, for completeness, a report of the case of the sibling of a WWS patient with acrania-exencephaly. 1433-0350 14330350 Springer |
| shingle_catch_all_4 | Martínez-Lage, J. F. Poza, M. García Santos, J. M. Puche, A. Casas, C. Costa, T. Rodriguez Neurosurgical management of Walker-Warburg syndrome Agyria Encephalocele Cerebal malformation Cerebro-oculomuscular syndrome Dandy-Walker malformation Hydrocephalus Lissencephaly Walker-Warburg syndrome Agyria Encephalocele Cerebal malformation Cerebro-oculomuscular syndrome Dandy-Walker malformation Hydrocephalus Lissencephaly Walker-Warburg syndrome Abstract The Walker-Warburg syndrome (WWS) is a lethal complex of the central nervous system and the eyes. At present its cause is unknown, but clinical evidence strongly suggests that it is an autosomalrecessively inherited disorder. We report a series of nine children with WWS. The diagnosis was established by the detection of lissencephaly, hydrocephalus, and cerebellar malformation on computed tomography. All children exhibited profound psychomotor retardation and ocular abnormalities (in their anterior or posterior eye chambers). The existence of an occipital encephalocele in eight cases was the main diagnostic clue to WWS. Six patients were investigated for the presence of congenital muscular dystrophy, which was confirmed in only four of them. There were no patients with a cleft lip or palate. We studied the incidence of WWS in Spain and estimated it at 0.21 cases per 10 000 live-born children. In our series, WWS was prevalent in the Spanish gypsy population. Consanguinity was present in five of seven affected families. In a case of preganancy with twins, one of the siblings was unaffected. Eight patients were treated with ventriculoperitoneal shunts and seven underwent encephalocele repair. Histological study of the excised encephaloceles demonstrated two different patterns. Interestingly, one of the infants showed coronal craniosynostosis. Finally, we include in the appendix, for completeness, a report of the case of the sibling of a WWS patient with acrania-exencephaly. 1433-0350 14330350 Springer |
| shingle_title_1 | Neurosurgical management of Walker-Warburg syndrome |
| shingle_title_2 | Neurosurgical management of Walker-Warburg syndrome |
| shingle_title_3 | Neurosurgical management of Walker-Warburg syndrome |
| shingle_title_4 | Neurosurgical management of Walker-Warburg syndrome |
| sigel_instance_filter | dkfz geomar wilbert ipn albert fhp |
| source_archive | Springer Online Journal Archives 1860-2000 |
| timestamp | 2024-05-06T09:45:30.301Z |
| titel | Neurosurgical management of Walker-Warburg syndrome |
| titel_suche | Neurosurgical management of Walker-Warburg syndrome |
| topic | WW-YZ |
| uid | nat_lic_papers_NLM203479777 |