Pontine tegmental cap dysplasia

Szczaluba, K.; Szymańska, Kamila; Bekiesińska‐Figatowska, Monika; Jurkiewicz, Elżbieta; Mądzik, Jarosław; Obersztyn, Ewa; Mazurczak, T.

doi:10.1212/wnl.0b013e3181e0f7f8

Cited by 15 publications

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“…To date, only 32 patients with PTCD have been reported [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18]. The hallmark of PTCD is pontine hypoplasia in combination with ectopic transverse pontine fibers located along the tegmental surface of the fourth ventricle, forming a characteristic Bpontine cap ( Fig.…”

Section: Introductionmentioning

confidence: 99%

“…Although cranial nerve deficits are variable between patients, sensorineural heading loss (SNHL) is the most common cranial neuropathy and a near-universal feature [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18]. Early reports contained scant data on the etiology of the hearing loss or the state of the cochlear nerve (CN) or internal auditory canal (IAC) [1][2][3][4][5][6][7][8][9][10]13].…”

Section: Introductionmentioning

confidence: 99%

“…Early reports contained scant data on the etiology of the hearing loss or the state of the cochlear nerve (CN) or internal auditory canal (IAC) [1][2][3][4][5][6][7][8][9][10]13]. Subsequently, three reports in the neurotology literature described a novel constellation of findings in five PTCD patients including duplicated IACs with separate vestibulocochlear nerve (VCN) and facial nerve (FN) canals, stenosis or atresia of the VCN canal, and absent bilateral VCNs, with variable absence of the FNs [11,12,14].…”

Section: Introductionmentioning

confidence: 99%

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Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia

et al. 2015

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia

et al. 2015

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“…It was first reported in four patients, in 2007 Macferran et al, 2010). Pathomechanism of the condition involves a defect in the migration or navigation of axons of rhombencephalic neurons (Szczaluba et al, 2010).…”

Section: Pontine Tegmental Cap Dysplasiamentioning

confidence: 99%

Lissencephalies and Axon Guidance Disorders

Sherr

Fernández

2013

Neural Circuit Development and Function in the Brain

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“…Since the first description of this severe hindbrain malformation, less than 50 patients have been reported postnatally [1][2][3][4][5][6][7][8][9][10]. We report 4 cases of PTCD, with emphasis on prenatal imaging findings that may suggest this rare diagnosis.…”

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confidence: 98%

Prenatal Imaging Findings of Pontine Tegmental Cap Dysplasia: Report of Four Cases

Blondiaux

Valence²,

Friszer³

et al. 2017

Fetal Diagn Ther

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Objectives: To describe the prenatal imaging findings in pontine tegmental cap dysplasia (PTCD), a rare congenital malformation of the hindbrain so far reported postnatally only and characterized by a typical appearance of the pons with malformations of the vermis and the cerebellar peduncles. Methods: This retrospective multicenter study retrieved 4 cases of PTCD over a 10-year period. Prenatal ultrasonography and fetal magnetic resonance imaging (MRI) findings were reviewed and compared to postnatal or postmortem data. Results: In all cases, the parents were referred between 22 and 27 weeks of gestation for characterization of a small cerebellar diameter <3rd centile. The prenatal diagnosis of PTCD was suspected in 1/4 cases, while in 3/4 cases the suggested prenatal diagnosis was pontocerebellar hypoplasia. In all cases, PTCD was characterized by ventral pontine hypoplasia with absence of bulging of the pons and by the tegmental cap protruding into the fourth ventricle on prenatal MRI. Parents opted for termination of pregnancy in 1 case. In the 3 other cases, the children presented with global developmental delay and multiple cranial nerve impairment. Conclusion: PTCD is a differential diagnosis of pontocerebellar hypoplasia and should be discussed on prenatal MRI in the presence of the tegmental cap protruding into the fourth ventricle.

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Pontine tegmental cap dysplasia

Cited by 15 publications

References 0 publications

Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia

Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia

Lissencephalies and Axon Guidance Disorders

Prenatal Imaging Findings of Pontine Tegmental Cap Dysplasia: Report of Four Cases

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