title: Pontine Tegmental Cap Dysplasia in an Extremely Preterm Infant and Review of the Literature.
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.
authors.affiliation: 1 Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany.|2 Institute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, Berlin, Germany.|3 Sozialpädiatrisches Zentrum (SPZ), Center for Chronic Sick Children, Charité-Universitätsmedizin Berlin, Berlin, Germany.|4 Berlin Institute of Health (BIH), Berlin, Germany.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Picker-Minh
authors.affiliation: 5 Department of Neonatology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
authors.forename: Sebastian
authors.initials: S
authors.lastname: Hartenstein
authors.affiliation: 5 Department of Neonatology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
authors.forename: Hans
authors.initials: H
authors.lastname: Proquitté
authors.affiliation: 6 Berlin Institute for Medical Systems Biology, Max-Delbrück-Center for Molecular Medicine, Berlin, Germany.
authors.forename: Sebastian
authors.initials: S
authors.lastname: Fröhler
authors.affiliation: 3 Sozialpädiatrisches Zentrum (SPZ), Center for Chronic Sick Children, Charité-Universitätsmedizin Berlin, Berlin, Germany.
authors.forename: Vera
authors.initials: V
authors.lastname: Raile
authors.affiliation: 1 Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany.|2 Institute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
authors.forename: Nadine
authors.initials: N
authors.lastname: Kraemer
authors.affiliation: 7 Institute of Human Genetics, Albert-Ludwigs University of Freiburg Medical Center, Freiburg, Germany.
authors.forename: Sarah
authors.initials: S
authors.lastname: Apeshiotis
authors.affiliation: 7 Institute of Human Genetics, Albert-Ludwigs University of Freiburg Medical Center, Freiburg, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Leipoldt
authors.affiliation: 8 Department of Gynecology and Perinatal Medicine, Charité-Universitätsmedizin Berlin, Germany.
authors.forename: Karim D
authors.initials: KD
authors.lastname: Kalache
authors.affiliation: 7 Institute of Human Genetics, Albert-Ludwigs University of Freiburg Medical Center, Freiburg, Germany.|9 Clinical Genetics and Genomics, Royal Brompton and Harefield NHS Foundation Trust, Royal Brompton Hospital, London, United Kingdom.
authors.forename: Deborah
authors.initials: D
authors.lastname: Morris-Rosendahl
authors.affiliation: 10 Department of Pediatric Neurology, University Children's Hospital of Zürich, Zürich, Switzerland.
authors.forename: Eugen
authors.initials: E
authors.lastname: Boltshauser
authors.affiliation: 6 Berlin Institute for Medical Systems Biology, Max-Delbrück-Center for Molecular Medicine, Berlin, Germany.
authors.forename: Wei
authors.initials: W
authors.lastname: Chen
authors.affiliation: 2 Institute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, Berlin, Germany.|3 Sozialpädiatrisches Zentrum (SPZ), Center for Chronic Sick Children, Charité-Universitätsmedizin Berlin, Berlin, Germany.|4 Berlin Institute of Health (BIH), Berlin, Germany.
authors.forename: Angela M
authors.initials: AM
authors.lastname: Kaindl
mesh_terms: D002531:Cerebellum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002658:Developmental Disabilities / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D062071:Infant, Extremely Premature; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009123:Muscle Hypotonia / Q000000981:diagnostic imaging*; D009421:Nervous System Malformations / Q000000981:diagnostic imaging*; D065821:Pontine Tegmentum / Q000002:abnormalities* / Q000000981:diagnostic imaging
keywords: cranial nerve impairment; hindbrain malformation; intellectual disability syndrome; sensorineural hearing impairment; speech impairment