title: [Olivo-ponto-cerebral hypoplasia--case report of a neurodegenerative disease manifesting at birth with a fatal outcome].
abstract: We report on a boy with pontocerebellar hypoplasia Type II according to the classification of Barth. The clinical signs were noted at birth and consisted of muscular hypertonus, central hypopnoe requiring artificial ventilation, chorea, hyperthermia above 40 degrees C and myoclonic seizures resistant to all therapeutic modalities. At birth, the boy was noted to have macrocephaly, but was microcephalic by 3 months of age. He failed to develop any mental or motor facilities. After cessation of all therapy the child died at the age of 3 1/2 months. Postmortem examination of the brain revealed loss of neurons and gliosis affecting the olivo-ponto-cerebellar system, signs characteristic of PCH.
authors.affiliation: Gemeinsame Einrichtung für Neonatologie und Pädiatrische Intensivmedizin, Universität Ulm.
authors.forename: S
authors.initials: S
authors.lastname: Vossbeck
authors.forename: A
authors.initials: A
authors.lastname: Scheuerle
authors.forename: D
authors.initials: D
authors.lastname: Bechinger
authors.forename: F
authors.initials: F
authors.lastname: Pohlandt
mesh_terms: D002657:Child Development; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008279:Magnetic Resonance Imaging; D008297:Male; D009849:Olivopontocerebellar Atrophies / Q000175:diagnosis* / Q000473:pathology / Q000523:psychology
vernacular_title: Olivo-ponto-cerebellare Hypoplasie--Fallbericht einer neurodegenerativen Erkrankung mit Manifestation bei Geburt und fatalem Verlauf.