A developmental classification of malformations of the brainstem

Barkovich, A. James; Millen, Kathleen J.; Dobyns, William B.

doi:10.1002/ana.21239

Cited by 76 publications

(81 citation statements)

References 59 publications

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“…The midline cleft is probably due to reduced number of crossing pontine axons, possibly resulting from impaired tangential migration of pontine nuclei, as demonstrated in mice with mutation of Large. 24,25 We found that callosal agenesis is not uncommon among patients with lissencephaly. ACC is among the characteristic features of ARX-associated lissencephaly.…”

Section: Resultsmentioning

confidence: 87%

Midbrain–hindbrain involvement in lissencephalies

Jissendi-Tchofo¹,

Kara²,

Barkovich³

2009

Neurology

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Objectives:To determine the involvement of the midbrain and hindbrain (MHB) in the groups of classic (cLIS), variant (vLIS), and cobblestone complex (CBSC) lissencephalies and to determine whether a correlation exists between the cerebral malformation and the MHB abnormalities.Methods: MRI scans of 111 patients (aged 1 day to 32 years; mean 5 years 4 months) were retrospectively reviewed. After reviewing the brain involvement on MRI, the cases were reclassified according to known mutation (LIS1, DCX, ARX, VLDLR, RELN, MEB, WWS) or mutation phenotype (LIS1-P, DCX-P, RELN-P, ARX-P, VLDLR-P) determined on the basis of characteristic MRI features. Abnormalities in the MHB were then recorded. For each structure, a score was assigned, ranging from 0 (normal) to 3 (severely abnormal). The differences between defined groups and the correlation between the extent of brain agyria/pachygyria and MHB involvement were assessed using Kruskal-Wallis and 2 McNemar tests. Results:There was a significant difference in MHB appearance among the three major groups of cLIS, vLIS, and CBSC. The overall score showed a severity gradient of MHB involvement: cLIS (0 or 1), vLIS (7), and CBSC (11 or 12). The extent of cerebral lissencephaly was significantly correlated with the severity of MHB abnormalities (p ϭ 0.0029). Conclusion: GLOSSARYA ϭ autosomal; ACC ϭ agenesis of corpus callosum; AD ϭ autosomal dominant; AP ϭ anteroposterior; AR ϭ autosomal recessive; CBL ϭ cerebellar; CBSC ϭ cobblestone complex; cLIS ϭ classic lissencephaly; CMD ϭ congenital muscular dystrophy; CSZ ϭ cell-sparse zone; DV ϭ dorsal-ventral; FCMD ϭ Fukuyama congenital muscular dystrophy; IVH ϭ inferior vermis hypoplasia; LV ϭ lateral ventricle; m ϭ medulla; M ϭ midbrain; MDS ϭ Miller-Dieker syndrome; MEB ϭ muscle-eyebrain; MHB ϭ midbrain and hindbrain; MR ϭ magnetic resonance; ND ϭ not determined; P ϭ pons; RC ϭ rostrocaudal; SCBH ϭ subcortical band heterotopia; SELH ϭ subependymal linear heterotopia; V ϭ vermis; vLIS ϭ variant lissencephaly; WI ϭ weighted image; WWS ϭ Walker-Warburg syndrome; XLD ϭ X-linked dominant; XLR ϭ X-linked recessive.The term lissencephaly (smooth outer brain surface) refers to a paucity of gyral and sulcal development. 1 It encompasses a spectrum of gyral malformations ranging from complete agyria to regional pachygyria and includes subcortical band heterotopia. Lissencephaly has been traditionally classified in two distinct groups: classic (cLIS, formerly called lissencephaly type 1) and cobblestone complex (CBSC, formerly called lissencephaly type 2) based on both brain imaging and pathology. To date, five genes have been identified as causing or contributing to human cLIS: LIS1, 14-3-3 in Miller-Dieker syndrome (MDS), DCX, RELN, and ARX. [1][2][3][4][5][6] A new classification has recently been proposed defining four groups of cLIS differing from each other by genetics and neuropathologic features of the cerebral cortex, cerebellum, and brainstem. 3 1)

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Section: Resultsmentioning

confidence: 87%

Midbrain–hindbrain involvement in lissencephalies

Jissendi-Tchofo¹,

Kara²,

Barkovich³

2009

Neurology

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“…Finally, 1 patient in this study harboring a de novo deletion at 14q22.1-23.1 presented with a short, small midbrain with elongated pons and enlarged superior cerebellar vermis, suggesting an abnormality of MH anteroposterior patterning due to rostral misplacement of the IsO. [20][21] This patient also had right anophthalmia and left colobomatous microphthalmia, small corpus callosum, bilateral hippocampal malformation, and hypoplasia of the anterior pituitary lobe with an ectopic posterior lobe. Interestingly, the 14q22.1-23.1 deletion includes the Otx2 gene, supporting the hypothesis that loss of Otx2 expression may determine rostral misplacement of the IsO also in humans.…”

Section: Discussionmentioning

confidence: 65%

“…Generalized or segmental brain stem hypoplasia may be an isolated malformative feature or part of a more complex MH malformation, such as pontocerebellar hypoplasia, 17 horizontal gaze palsy with progressive scoliosis, 18 pontine tegmental cap dysplasia, 19 and anteroposterior or dorsoventral MH patterning defects. 20,21 More frequently, brain stem hypoplasia is identified in patients with cerebral malformations such as congenital muscular dystrophies, 22 lissencephalies, 23 or cerebral commissural anomalies. 20 As previously described in other MH malformations, 24 we found that cognitive impairment or developmental delay was more frequent in patients with SOD with small hindbrain, worsening the prognosis and impairing rehabilitative strategies.…”

Section: Discussionmentioning

confidence: 99%

“…20,21 More frequently, brain stem hypoplasia is identified in patients with cerebral malformations such as congenital muscular dystrophies, 22 lissencephalies, 23 or cerebral commissural anomalies. 20 As previously described in other MH malformations, 24 we found that cognitive impairment or developmental delay was more frequent in patients with SOD with small hindbrain, worsening the prognosis and impairing rehabilitative strategies. Recently, mutations in OTX2 and FGF8 genes have been described in patients with SOD.…”

Section: Discussionmentioning

confidence: 99%

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Midbrain-Hindbrain Involvement in Septo-Optic Dysplasia

Severino¹,

Allegri²,

Pistorio

et al. 2014

American Journal of Neuroradiology

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“…MR imaging is an excellent tool for assessing the anatomic and biochemical disturbances of the brain in patients with CAC. [13][14][15][16][17] It can define structural disturbances; distinguish acute from subacute, chronic, or inherited diseases; suggest some specific diagnoses while eliminating others; and monitor disease progression. Currently, the strength of neuroimaging in diagnostic investigations of many childhood neurologic disorders is based on a pattern-recognition approach, similar to those used in assessing leukodystrophies and brain tumors.…”

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confidence: 99%

Inherited Cerebellar Ataxia in Childhood: A Pattern-Recognition Approach Using Brain MRI

Vedolin

González

Souza

et al. 2012

AJNR Am J Neuroradiol

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SUMMARY:Ataxia is the principal symptom of many common neurologic diseases in childhood. Ataxias caused by dysfunction of the cerebellum occur in acute, intermittent, and progressive disorders. Most of the chronic progressive processes are secondary to degenerative and metabolic diseases. In addition, congenital malformation of the midbrain and hindbrain can also be present, with posterior fossa symptoms related to ataxia. Brain MR imaging is the most accurate imaging technique to investigate these patients, and imaging abnormalities include size, shape, and/or signal of the brain stem and/or cerebellum. Supratentorial and cord lesions are also common. This review will discuss a pattern-recognition approach to inherited cerebellar ataxia in childhood. The purpose is to provide a comprehensive discussion that ultimately could help neuroradiologists better manage this important topic in pediatric neurology.ABBREVIATIONS: AR ϭ autosomal recessive; CAC ϭ cerebellar ataxia in childhood; 4H ϭ hypomyelination with hypogonadotropic hypogonadism and hypodon-

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A developmental classification of malformations of the brainstem

Cited by 76 publications

References 59 publications

Midbrain–hindbrain involvement in lissencephalies

Midbrain–hindbrain involvement in lissencephalies

Midbrain-Hindbrain Involvement in Septo-Optic Dysplasia

Inherited Cerebellar Ataxia in Childhood: A Pattern-Recognition Approach Using Brain MRI

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