Pontocerebellar Hypoplasia Type 1

Nora Szabo, Hajnalka Szabo, Tibor Hortobagyi, Sandor Turi, Laszlo Sztriha

    Research output: Contribution to journalArticlepeer-review

    9 Citations (Scopus)

    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. (C) 2008 by Elsevier Inc. All rights reserved.
    Original languageEnglish
    Pages (from-to)286 - 288
    Number of pages3
    JournalPediatric Neurology
    Volume39
    Issue number4
    DOIs
    Publication statusPublished - Oct 2008

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