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Pontine tegmental cap dysplasia in an extremely preterm infant and review of the literature

Item Type:Article
Title:Pontine tegmental cap dysplasia in an extremely preterm infant and review of the literature
Creators Name:Picker-Minh, S. and Hartenstein, S. and Proquitte, H. and Froehler, S. and Raile, V. and Kraemer, N. and Apeshiotis, S. and Leipoldt, M. and Kalache, K.D. and Morris-Rosendahl, D. and Boltshauser, E. and Chen, W. and Kaindl, A.M.
Abstract:Pontine tegmental cap dysplasia is a rare hindbrain malformation syndrome with a hypoplastic pons, a tissue protrusion into the fourth ventricle, and cranial nerve dysfunction. We here report clinical, imaging, and genetic findings of the first extremely low-birth-weight preterm infant with pontine tegmental cap dysplasia born at 25 weeks of gestation and provide an overview of 29 sporadic cases. A prenatally diagnosed hypoplastic and rostrally shifted cerebellum was indicative of a hindbrain defect and later identified as an early sign of pontine tegmental cap dysplasia in our patient. The neonate exhibited severe muscle hypotonia, persistent thermolability, and clinical signs of an involvement of facial, cochlear, and hypoglossal nerves. Furthermore, paroxysmal episodes of agonizing pain with facial tics, tonic and clonic muscle contractions, blepharospasm, and singultus are highlighted as new phenotypic features of pontine tegmental cap dysplasia. With our report, we present a severe case of pontine tegmental cap dysplasia and provide a brief overview of current knowledge on this rare disease.
Keywords:Hindbrain Malformation, Intellectual Disability Syndrome, Sensorineural Hearing Impairment, Speech Impairment, Cranial Nerve Impairment
Source:Journal of Child Neurology
ISSN:0883-0738
Publisher:Sage Pubications (U.S.A.)
Volume:32
Number:3
Page Range:334-340
Date:March 2017
Official Publication:https://doi.org/10.1177/0883073816680748
PubMed:View item in PubMed

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