title: Pontocerebellar hypoplasia type 1.
abstract: Pontocerebellar hypoplasias are heterogeneous disorders that share a reduction in the size of brainstem and cerebellum. We describe a patient with features of the rare combination of pontocerebellar hypoplasia and spinal motor neuron disease. Parental consanguinity, low Apgar scores, facial weakness, dysphagia, tongue fasciculations, stridor, generalized hypotonia, severe muscle weakness, areflexia, and congenital joint contractures were evident. Cranial magnetic resonance imaging revealed a small cerebellum and brainstem, and a muscle biopsy revealed neurogenic changes. These abnormalities suggested pontocerebellar hypoplasia type 1.
authors.affiliation: Division B, Department of Paediatrics, Faculty of Medicine, University of Szeged, Szeged, Hungary.
authors.forename: Nóra
authors.initials: N
authors.lastname: Szabó
authors.forename: Hajnalka
authors.initials: H
authors.lastname: Szabó
authors.forename: Tibor
authors.initials: T
authors.lastname: Hortobágyi
authors.forename: Sándor
authors.initials: S
authors.lastname: Túri
authors.forename: László
authors.initials: L
authors.lastname: Sztriha
mesh_terms: D002493:Central Nervous System Diseases / Q000150:complications / Q000175:diagnosis*; D002531:Cerebellum / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D016472:Motor Neuron Disease / Q000150:complications / Q000473:pathology; D009123:Muscle Hypotonia / Q000209:etiology / Q000473:pathology; D011149:Pons / Q000002:abnormalities*