Congenital fusion of the thalami (atresia of the third ventricle) and associated anomalies in a 6 months old infant

Kepes, John J.; Clough, C. T.; Villanueva, A Medina

doi:10.1007/bf00686144

Cited by 26 publications

(10 citation statements)

References 3 publications

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“…In two of our cases only, the aqueduct was normal, and hydrocephalus was moderate. In some previous reports, atresia-forking of the aqueduct and/ or of the third ventricle has been described [23,47,48]. This anomaly appears to be relatively frequent, since it was present in 39% of our cases.…”

Section: Neuropathological Descriptionssupporting

confidence: 52%

“…Neuropathological descriptions concern mainly pediatric, 11 cases, from birth to the age of 16 [14,20,21,23,42,48] and four adult cases [20,21,30,58]. Fetal neuropathology has seldom been reported, and to our knowledge, only eight autopsy cases with neuropathological analysis have been described [26,27,[47][48][49].…”

Section: Neuropathological Descriptionsmentioning

confidence: 96%

“…Furthermore, Michaud et al [27], who described a case of RS with septooptic dysplasia, described associated anomalies strongly suggestive of VACTERL-H, as well as in the cases reported by Briard [4], where "stenosis" of the aqueduct of Sylvius without further neuropathological description was noted. In term of genetic counselling, this VACTERL-H/ RS association has to be recognized owing to the theoretical risk of recurrence [18,21,23,48]. Oculo-AuriculoVertebral (OAV) spectrum (MIM164210) was suspected in two cases because of vertebral defects and unilateral atresia of the external auditory canal but no other speciWc criteria were found [22].…”

Section: Associated Anomaliesmentioning

confidence: 99%

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Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases

et al. 2008

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Rhombencephalosynapsis is an uncommon cerebellar malformation deWned by vermian agenesis with fusion of the hemispheres and of the dentate nuclei. Embryologic and genetic mechanisms are still unknown, and to date, no animal models are available. Ultrasound diagnosis is generally suspected after 22 weeks of gestation, and usually the abnormality is suggested by ventriculomegaly. Morphological analysis of 40 fetuses after medical termination of pregnancy allowed us to conWrm that rhombencephalosynapsis was always associated with other brain abnormalities or malformations: Purkinje cell heterotopias, fusion of colliculi, forking and/or atresia of the aqueduct and of the third ventricle resulting in a fusion of the thalami, agenesis of the corpus callosum, lobar holoprosencephaly and neural tube defects. Pons and medulla were very infrequently abnormal. Furthermore, complete autopsy made it possible to separate either pure neurologic phenotypes, or associated with extraneural anomalies from syndromic forms: Gomez-Lopez-Hernandez syndrome (1 case) and VACTERL-H syndrome (6 cases). The number of our fetal cases strongly suggests that VACTERL-H association related with rhombencephalosynapsis emerges as a non-random association. Furthermore, recurrence and consanguinity were noted in two diVerent families, which argue for a sporadic or inherited cause. From our results, it could be suggested that rhombencephalosynapsis may be due to defective genes regulating formation of the roof plate and the development of midline cerebellar primordium at the junction of the mesencephalon and of the Wrst rhombomere.

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Section: Neuropathological Descriptionssupporting

confidence: 52%

Section: Neuropathological Descriptionsmentioning

confidence: 96%

Section: Associated Anomaliesmentioning

confidence: 99%

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Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases

et al. 2008

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“…However, in contrast t o our patient, the aqueduct was markedly narrowed throughout, the profile of the quadrigeminal plate was obscured, and the pyramids were hypoplastic. It seems that there is a spectrum of stenosis or atresia in this region, varying from involvement of the aqueduct, as in many cases of X-linked hydrocephalus, to the third ventricle as in the present case, to the third ventricle and aqueduct as in the case of Holmes et al [1973], and to the third ventricle, aqueduct, and anterior part of the fourth ventricle as in the case of Kepes et al [1969]. Common to all these cases is the lack of inflammatory infiltration, or filling of the lumen internal to the ependymal lining by reactive gliosis.…”

Section: Discussionmentioning

confidence: 56%

Autosomal recessive hydrocephalus with third ventricle obstruction

et al. 1990

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Here we report a brother and sister who presented in the neonatal period with hydrocephalus. Ultrasonography showed marked dilatation of the lateral ventricles but not the third ventricle. One child with postnatal onset was shunted and had normal development at 3 years. The other child had severe hydrocephalus at birth and was not treated. Neuropathologic studies demonstrated dilatation of the lateral ventricles and marked narrowing of the posterior part of the third ventricle but no other malformations other than those that result directly from hydrocephalus. The potential for a good prognosis is emphasized.

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“…This may represent an extremely atrophic corpus callosum, narrowed cingulate gyri and hypoplastic fornices. With the exception of olfactory aplasia, each of these lesions has been observed in other cases (Gross 1959, Kepes et al 1969, Gross et al 1978.…”

Section: Discussionmentioning

confidence: 89%

Rhombencephalosynapsis: a Viennese Malformation?

Schachenmayr

Friede

1982

Develop Med Child Neuro

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SUMMARY Rhombencephalosynapsis is a rare malformation consisting of aplasia of the cerebellar vermis, nuclei fastigii and anterior medullary velum, together with midline fusion of the cerebellar hemispheres and their dentate nuclei. This is the seventh case of this lesion to be reported. RÉSUMÉ Rhombencéphalosynapsis: malformation viennoise? Le rhombencéphalosynapsis est une malformation rare consistant en une aplasie du vermis cérébelleux, des noyaux du toit du quatrième ventricule, et de la valvule de Vieussens, associée à une fusion médiane des hémisphères cérébelleux et de leurs noyaux dentelés. C'est le septième cas de cette malformation à ètre rapporté ZUSAMMENFASSUNG Rhombencephalosynapsis: Eine Wiener Miβbildung? Die Rhombencephalosynapsis ist eine seltene Miβbildung bestehend aus einer Aplasie des Vermix cerebellaris, der Nuclei fastigii und des Velum medullare anterior, zusammen mit einer Fusion der Mittellinie der cerebellären Hemisphären und ihrer Nuclei dentatae. Dies ist der siebente Fallbericht mit dieser Miβbildung. RESUMEN Rombencefalosinapsis: ¿una malformación Vienesa? La rombencefalosinapsis es una malformación rar que consiste en la aplasia del vermis cerebeloso los núcleos fastigi y anterior del velum bulbar, junto con una fusión en la linea media de los hemisferios cerebelosos y de sus núcleos dentados. Este es el séptimo caso aportado de este tipo de lesión.

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Congenital fusion of the thalami (atresia of the third ventricle) and associated anomalies in a 6 months old infant

Cited by 26 publications

References 3 publications

Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases

Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases

Autosomal recessive hydrocephalus with third ventricle obstruction

Rhombencephalosynapsis: a Viennese Malformation?

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