Brainstem hypoplasia in familial horizontal gaze palsy and scoliosis

Pieh, Christina; Lengyel, Dora; Neff, Anton W.; Fretz, Christian; Gottlob, Irène

doi:10.1212/wnl.59.3.462

Cited by 51 publications

(43 citation statements)

References 6 publications

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“…Both patients presented with similar findings on conventional MrI and dTI sequences, also similar to the ones already reported in the literature, which included flattening of the basis pontis with a posterior midline cleft (split pons sign), hypoplasia of the pontine tegmentum and a butterfly or rectangular-shaped medulla oblongata with anterior flattening, the olives being more prominent than the pyramids 3,4 . dTI findings showed striking abnormal findings on the color-coded maps of the posterior fossa structures.…”

Section: Resultssupporting

confidence: 85%

“…on Mr imaging 3,7 , although normal studies were previously reported, the most characteristic features encountered concurred with proposed physiopathologic and pathologic mechanisms in the disease, with a posterior midline cleft in the pons (split pons sign) potentially reflecting involvement of the abducens nerve nuclei, the MlF and/or the PPrF; the butterfly or rectangular-shaped medulla oblongata with anterior flattening, and the olives more prominent than the pyramids reflecting the absence of decussation of the pyramids. The tent-shaped floor of the Ivth ventricle is thought to reflect absence of the protrusions determined by the abducens, gracile and cuneate nuclei on the posterior aspects of the pons and medulla, respectively.…”

Section: Tpf Cst and ML [D-g] Color-coded Maps [Defg] [Df] Patsupporting

confidence: 74%

“…conventional Mr imaging shows hindbrain dysplasia 3,4 with findings that are very supportive of the pathophysiology of the disease, which is thought to involve the medial longitudinal fasciculus (MlF) and adjacent areas of the abducens nuclei and paramedian pontine reticular formation (PPrF). diffusion tensor imaging (dTI), with its ability to demonstrate white matter tracts, is a very suitable technique to further evaluate the abnormalities underlying this disease.…”

mentioning

confidence: 92%

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Further diffusion tensor imaging contribution in horizontal gaze palsy and progressive scoliosis

Otaduy

Leite

Nagae

et al. 2009

Arq. Neuro-Psiquiatr.

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-In two siblings with clinical diagnosis of horizontal gaze palsy associated with progressive scoliosis (HGPPS) we could demonstrate by diffusion tensor imaging: (1) An anterior displacement of the transverse pontine fibers; (2) Posterior clumping of the corticospinal, medial lemniscus and central tegmental tracts and of the medial and dorsal longitudinal fasciculi complex; (3) Absent decussation of superior cerebellar peduncle. Those findings can contribute as surrogate markers for the diagnosis.Key wordS: diffusion, scoliosis, palsy, MrI.contribuição adicional das imagens por tensores de difusão em paralisia do olhar conjugado horizontal associada a escoliose progressiva resumo -em dois irmãos com diagnóstico clínico de paralisia do olhar conjugado horizontal associada a escoliose progressiva, foi possível determinar através de imagens por tensores de difusão: (1) deslocamento anterior das fibras pontinas transversas; (2) Agrupamento posterior do trato córtico-espinhal, lemnisco medial e trato tegmentar central e complexos dos fascículos longitudinais medial e dorsal; (3) Ausência da decussação dos pedúnculos cerebelares superiores. Tais achados podem contribuir como marcadores para o diagnóstico.

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Section: Resultssupporting

confidence: 85%

Section: Tpf Cst and ML [D-g] Color-coded Maps [Defg] [Df] Patsupporting

confidence: 74%

mentioning

confidence: 92%

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Further diffusion tensor imaging contribution in horizontal gaze palsy and progressive scoliosis

Otaduy

Leite

Nagae

et al. 2009

Arq. Neuro-Psiquiatr.

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“…The syndrome of horizontal gaze palsy with progressive scoliosis [HGPPS; Online Mendelian Inheritance in Man (OMIM) 607313] with hindbrain dysplasia is a rare human disorder (8,9). Studies of human genetic disorders affecting eye movement helped define neuronal codes that underlie axon pathfinding (10)(11)(12).…”

mentioning

confidence: 99%

Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis

Jen

Chan

Bosley

et al. 2004

Science

349

304

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The mechanisms controlling axon guidance are of fundamental importance in understanding brain development. Growing corticospinal and somatosensory axons cross the midline in the medulla to reach their targets and thus form the basis of contralateral motor control and sensory input. The motor and sensory projections appeared uncrossed in patients with horizontal gaze palsy with progressive scoliosis (HGPPS). In patients affected with HGPPS, we identified mutations in the ROBO3 gene, which shares homology with roundabout genes important in axon guidance in developing Drosophila , zebrafish, and mouse. Like its murine homolog Rig1/Robo3, but unlike other Robo proteins, ROBO3 is required for hindbrain axon midline crossing.

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“…Asymmetric intermittent blinking and nystagmus may be present [33][34][35][36] . The pathophysiology of this interesting association between distinct neuroophthalmological and bone structural abnormalities remained obscure until 2004, when Jen at al.…”

Section: Progressive Scoliosis and Horizontal Gaze Palsymentioning

confidence: 99%

Neuropareidolia: diagnostic clues apropos of visual illusions

Maranhão-Filho

Vincent

2009

Arq. Neuro-Psiquiatr.

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-Diagnosis in neuroimaging involves the recognition of specific patterns indicative of particular diseases. Pareidolia, the misperception of vague or obscure stimuli being perceived as something clear and distinct, is somewhat beneficial for the physician in the pursuit of diagnostic strategies. Animals may be pareidolically recognized in neuroimages according to the presence of specific diseases. By associating a given radiological aspect with an animal, doctors improve their diagnostic skills and reinforce mnemonic strategies in radiology practice. The most important pareidolical perceptions of animals in neuroimaging are the hummingbird sign in progressive supranuclear palsy, the panda sign in Wilson's disease, the panda sign in sarcoidosis, the butterfly sign in glioblastomas, the butterfly sign in progressive scoliosis and horizontal gaze palsy, the elephant sign in Alzheimer's disease and the eye-of-the-tiger sign in pantothenate kinase-associated neurodegenerative disease.KEY WORDS: pareidolia, neuroimaging, progressive supranuclear palsy, Wilson's disease, sarcoidosis, glioblastomas, progressive scoliosis and horizontal gaze palsy, Alzheimer's disease, pantothenate kinaseassociated neurodegenerative disease.Neuropareidolia: pista diagnóstica a partir de uma ilusão visual resumo -O diagnóstico em neuroimagem envolve o reconhecimento de padrões específicos indicativos de doenças particulares. Pareidolia, é a perceção equivocada de algo claro e distinto a partir de um estímulo vago e obscuro, por vezes benéfico a quem interpreta exames de imagem na procura do diagnóstico. A este propósito, alguns animais podem pareidolicamente ser reconhecidos em neuroimagens associadas a determinadas doenças específicas, promovendo mais rapidez na habilidade diagnóstica e naturalmente reforçando estratégias mnemônicas individuais na prática do diagnóstico neuroradiológico. Alguns dos sinais de neuroimagens relacionados a percepções pareidolicas de animais são: o sinal do beja-flor na paralisia supra nuclear progressiva; o sinal do panda na doença de Wilson; o sinal do panda na sarcoisdose; o sinal da borboleta no glioblastoma; o sinal da borboleta no escoliose progressiva e paralisia do olhar horizontal; o sinal do elefante na doença de Alzheimeir; e o sinal do olho de tigre na doença degenerativa ligada a pantothenato kinase. PALAVRAS-CHAVE: pareidolia, neuroimagem, paralisia supranuclear progressiva, doença de Wilson, sarcoidose, glioblastoma, escoliose progressiva e paralisia do olhar horizontal, doença de Alzheimer, doença neurodegenerativa associada a pantothenate kinase.

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Brainstem hypoplasia in familial horizontal gaze palsy and scoliosis

Cited by 51 publications

References 6 publications

Further diffusion tensor imaging contribution in horizontal gaze palsy and progressive scoliosis

Further diffusion tensor imaging contribution in horizontal gaze palsy and progressive scoliosis

Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis

Neuropareidolia: diagnostic clues apropos of visual illusions

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