Pontine tegmental cap dysplasia accompanied by a duplicated internal auditory canal

Queiroz, Rodolfo Mendes; Lauar, Lara Zupelli; Souza, Luiz Carlos Alves de; Oliveira, Rafael Gouvêa Gomes de; Abud, Lucas Giansante

doi:10.1590/0100-3984.2016.0015

Cited by 3 publications

(3 citation statements)

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“…Pontine tegmental cap dysplasia (PTCD) is a rare neurological syndrome with a distinct hindbrain malformation and cranial nerve (CN) dysfunction [1]. Approximately 40 cases have been reported [1], [2], [3], [4], [5], [6], [7], [8]. Magnetic resonance imaging (MRI) with diffusion tensor imaging (DTI) plays an essential role in diagnosing PTCD [9].…”

Section: Introductionmentioning

confidence: 99%

“…Varying deficits in CN V, VI, VII, VIII, and IX [1] are known. The symptoms vary in scope and severity among patients ranging from mild cognitive impairment to severe dysfunction, but most patients present with deafness and speech difficulty [1], [2], [3], [4], [5], [6], [7], [8], [9], [10].…”

Section: Introductionmentioning

confidence: 99%

“…Cochlear implants have treated hearing and speech problems with variable efficacy and have been shown to improve quality of life in some patients [11], [12], [13]. Case reports have been described in patients aged 6 months to more than 48 years [5], [14]. The spectrum of PTCD is wide, necessitating individualized treatment depending on the symptoms.…”

Section: Introductionmentioning

confidence: 99%

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Pontine tegmental cap dysplasia with a duplicated internal auditory canal

Chan¹,

Veltkamp²,

Desai³

et al. 2019

Radiology Case Reports

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Pontine tegmental cap dysplasia (PTCD) is a rare neurological syndrome that results in a hypoplastic ventral pons, tegmental cap at the dorsal pons, and cranial nerve dysfunction. The most common symptoms are hearing loss and speech problems. We present a case of a 9-month-old male who presented with developmental delay and hypotonia. Magnetic resonance imaging revealed ectopic dorsal transverse pontine fibers and a cap-like protrusion of the dorsal pons. Diffusion tensor imaging showed that the ventral pontine fibers were absent. The cause of PTCD is undiscovered, but proposed hypotheses include dysfunction in axonal guidance, neuronal migration, and ciliary protein function. PTCD is a rare neurological disorder, but the diagnosis can be suggested with MRI using diffusion tensor imaging as an aid.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Pontine tegmental cap dysplasia with a duplicated internal auditory canal

Chan¹,

Veltkamp²,

Desai³

et al. 2019

Radiology Case Reports

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Ocular Findings in Pontine Tegmental Cap Dysplasia

Mehner

Jung

Maloney

et al. 2020

Cornea

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Purpose: To describe the ocular complications experienced by patients with pontine tegmental cap dysplasia (PTCD) and the management strategies used to care for these children. Methods: Subjects with PTCD were recruited through social media advertisement and completed a survey gathering information on potential ocular problems related to the patient's PTCD disease and any current or previous treatments. Results: Twenty-two patients or guardians completed the survey. Neurotrophic cornea was the most common ocular diagnosis (82%), followed by facial palsy (59%), dry eye syndrome (59%), and blepharitis (55%). Other diagnoses included cortical visual impairment (27%), strabismus (27%), amblyopia (18%), and nystagmus (18%). Common treatment modalities included lubricating eye drops (59%) or ointment (50%), contact lenses (14%), punctal plugs (27%), glasses (45%), and patching (18%). The most common surgical interventions were temporary or permanent tarsorrhaphy (64%) and amniotic membrane grafts (23%). In total, 68% of families reported self-injury to eyes and 91% reported the child to be primarily a visual learner. Conclusions: PTCD is a newly described, very rare disorder with a variety of vision-threatening ocular manifestations. It is essential that the ophthalmologist be aware of the potential for neurotrophic cornea because timely treatment could prevent corneal scarring, perforation, and blindness.

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