Joubert Syndrome: A Case Report

Joubert Syndrome: A Case Report

Joubert syndrome (JS) isa rare autosomal recessive neuro developmental disorder involving cerebellar vermis and brainstem, marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation. Magnetic Resonance Imaging (MRI) reveals the...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Nepal journal of neuroscience 2018-05, Vol.15 (1), p.23-26
Hauptverfasser: Kafle, Prakash, Shilpakar, Sushil Krishna, Sharma, Mohan Raj, Sedain, Gopal, Pradhanang, Amit K, Bhandari, Binod Raj
Format: Artikel
Sprache:eng
Schlagworte:
bat wing appearance
hypotonia
joubertsyndrome
molar tooth sign
vermianagenesis
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:Joubert syndrome (JS) isa rare autosomal recessive neuro developmental disorder involving cerebellar vermis and brainstem, marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation. Magnetic Resonance Imaging (MRI) reveals the characteristic Molar tooth sign of midbrain and Batwing appearance of rostral fourth ventricle. Nepal Journal of Neuroscience 15:23-26, 2018
ISSN:1813-1948
1813-1956
DOI:10.3126/njn.v15i1.20023