title: Midbrain disconnection: an aetiology of severe central neonatal hypotonia.
abstract: A full term girl exhibited massive hypotonia related to severe posterior fossa abnormalities consisting of pontocerebellar hypoplasia with midbrain disconnection. The latter was due to lack of one and marked hypoplasia of the other cerebral peduncles. In addition, there was mild vermian and cerebellar hypoplasia. Compared to usual pontocerebellar hypoplasia, the midbrain disconnection is a distinctive feature of our case. It is a rare malformation only three similar cases have previously been described.
authors.affiliation: Service Pédiatrie Hôpital Alix de Champagne, Reims, France. nbednarek@chu-reims.fr
authors.forename: Nathalie
authors.initials: N
authors.lastname: Bednarek
authors.forename: Didier
authors.initials: D
authors.lastname: Scavarda
authors.forename: François
authors.initials: F
authors.lastname: Mesmin
authors.forename: Pascal
authors.initials: P
authors.lastname: Sabouraud
authors.forename: Jacques
authors.initials: J
authors.lastname: Motte
authors.forename: Patrice
authors.initials: P
authors.lastname: Morville
mesh_terms: D002531:Cerebellum / Q000002:abnormalities; D003388:Cranial Fossa, Posterior / Q000002:abnormalities; D003402:Creatine Kinase / Q000378:metabolism; D004569:Electroencephalography; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008636:Mesencephalon / Q000002:abnormalities* / Q000473:pathology; D009123:Muscle Hypotonia / Q000151:congenital / Q000209:etiology*; D018482:Muscle, Skeletal / Q000201:enzymology; D011149:Pons / Q000002:abnormalities
chemical_list: D003402:Creatine Kinase