Cognitive outcome in children with rhombencephalosynapsis

Poretti, Andrea; Alber, Fabienne Dietrich; Bürki, Sarah; Toelle, Sandra P.; Boltshauser, Eugen

doi:10.1016/j.ejpn.2008.02.005

Cited by 57 publications

(61 citation statements)

References 15 publications

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“…In children, atrophy of the white matter with gyral abnormalities, and fusion of the inferior and superior colliculi have also been reported [8,26,32,33,44]. Other features have also been described, such as malrotated hippocampi, hypoplastic chiasm, fused cerebral peduncles and thalami [2,9,32,34,54], parietal and temporo-parietal cortical dysplasia [32,33], and schizencephalic cleft [33]. Using MRI, associated Dandy-Walker malformation has been observed in four fetuses [36,45] and Chiari I or II malformations have also been reported in two children [46,54], but these malformations were not identiWed using prenatal US or MRI in our cases.…”

Section: Clinical and Mri Diagnosismentioning

confidence: 92%

“…Regarding the diagnosis of partial or total vermian agenesis or hypoplasia, several pathological conditions are now easily distinguished from RS by both brain MRI and morphology, in particular Dandy-Walker continuum, Joubert syndrome, tectocerebellar dysraphy, cerebellar dysplasia of lissencephaly type II or pontocerebellar hypoplasias, and histological analysis makes it possible to distinguish clearly RS from cerebellar atrophy. To date about 70 cases have been extensively described by imaging, two-thirds of them by MRI, the majority of cases having non-syndromic RS [34]. The major antenatal MRI signs consist, on axial planes, of fused cerebellar hemispheres, absent or hypoplastic vermis, narrow diamond-shaped fourth ventricle and fused dentate nuclei.…”

Section: Clinical and Mri Diagnosismentioning

confidence: 99%

“…Most patients die in early life, but survival into adulthood has been reported [2,20,29,30]. In patients alive, clinical prognosis depends on the severity of neurological signs, on mental retardation and long-term cognitive functions which are most often impaired, even though RS is compatible with normal cognitive functions in childhood [34,53] as well as in adulthood [2]. At the present time, the precise etiological factors responsible for this cerebellar malformation, which is supposed to occur between 28 and 42 post-conceptional days [51,55] are unknown, though several hypotheses have been proposed including teratogenic [27,47] or genetic, either chromosomal [24,54] or genetic ones [58].…”

Section: Introductionmentioning

confidence: 99%

“…After birth, clinical presentation can vary highly in severity. In post-natal cases as well as in children, typical symptoms consist of swallowing diYculties, delayed motor acquisitions, muscular hypotonia, spastic quadriparesis, cerebellar signs including dysarthria, gait ataxia, abnormal eye movements, nystagmus and head stereotypies [34,53,54], seizures and hydrocephalus being inconstant. Ocular abnormalities have recently been extensively described and attributed to a direct consequence of absent cerebellar vermis, an essential component of the neural pathways that controls horizontal vergence [33].…”

Section: Introductionmentioning

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: Clinical and Mri Diagnosismentioning

confidence: 92%

Section: Clinical and Mri Diagnosismentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

et al. 2008

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“…The majority of patients are nonsyndromic. However, rhombencephalosynapsis is a key feature of Gómez-López-Hernández syndrome (OMIM 601853 [parietal alopecia, trigeminal anesthesia, and craniofacial dysmorphic signs]) (32,33) and may be seen in patients with associated VACTERL (vertebral anomalies, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, renal anomalies, and limb defects) (34). The sporadic nature of rhombencephalosynapsis contributes to its low recurrence risk.…”

Section: Cerebellar Involvement In Migrational Disor-mentioning

confidence: 99%

Congenital Abnormalities of the Posterior Fossa

Bosemani¹,

Orman²,

Boltshauser³

et al. 2015

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Clinical and molecular evaluation of 13 Brazilian patients with Gomez‐López‐Hernández syndrome

Perrone

Perez

D’Almeida

et al. 2020

American J of Med Genetics Pt A

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We aim to characterize patients with Gomez‐López‐Hernández syndrome (GLHS) clinically and to investigate them molecularly. A clinical protocol, including a morphological and neuropsychological assessment, was applied to 13 patients with GLHS. Single‐nucleotide polymorphism (SNP) array and whole‐exome sequencing were undertaken; magnetic resonance imaging was performed in 12 patients, including high‐resolution, heavily T2‐weighted sequences (HRT2) in 6 patients to analyze the trigeminal nerves. All patients presented alopecia; two did not present rhombencephalosynapsis (RES); trigeminal anesthesia was present in 5 of the 11 patients (45.4%); brachycephaly/brachyturricephaly and mid‐face retrusion were found in 84.6 and 92.3% of the patients, respectively. One patient had intellectual disability. HRT2 sequences showed trigeminal nerve hypoplasia in four of the six patients; all four had clinical signs of trigeminal anesthesia. No common candidate gene was found to explain GLHS phenotype. RES does not seem to be an obligatory finding in respect of GLHS diagnosis. We propose that a diagnosis of GLHS should be considered in patients with at least two of the following criteria: focal non‐scarring alopecia, rhombencephalosynapsis, craniofacial anomalies (brachyturrycephaly, brachycephaly or mid‐face retrusion), trigeminal anesthesia or anatomic abnormalities of the trigeminal nerve. Studies focusing on germline whole genome sequencing or DNA and/or RNA sequencing of the alopecia tissue may be the next step for the better understanding of GLHS etiology.

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Cognitive outcome in children with rhombencephalosynapsis

Cited by 57 publications

References 15 publications

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

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

Congenital Abnormalities of the Posterior Fossa

Clinical and molecular evaluation of 13 Brazilian patients with Gomez‐López‐Hernández syndrome

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