Reach Us +44 7480022681

agario okey oyna izmir okey

Abstract

A Rare Case of Global Developmental Delay with Ataxia Joubert Syndrome

Joubert syndrome is a rare autosomal recessive disorder characterised by developmental delay, ataxia, episodic hyperapneoa, opsoclonus associated with brainstem and cerebellar abnormalities. We describe clinical and neuroimaging features of a child with classical joubert syndrome. A 22 months old male child born of non-consanguineous marriage, presented to us with global developmental delay, hypotonia, truncal ataxia and abnormal eye movements. Birth history was uneventful. MRI brain revealed classical features of joubert syndrome. The MRI features are thickened superior cerebellar peduncles, hypoplasia of the vermis, giving it an appearance of molar tooth sign. The molar tooth sign is almost pathognomonic of joubert syndrome. The prognosis of these patients is poor with a five year survival rate of less than 50%. As the recurrence rate is 25% prenatal diagnosis should be done using serial ultrasounds and foetal MRI in second trimester. These children are sensitive to respiratory depressant effects of opiates and nitrous oxide, hence should be avoided


Author(s):

Nagesh Dasarwar and Sravya Datla 



Abstract | Full-Text | PDF

Share this  Facebook  Twitter  LinkedIn  Google+

tempobet

tempobet giriş

tipobet tipobet son giriş tipobet giriş yap tipobet yeni giriş sayfası tipobet yeni giriş adresi
https://wowcappadocia.com
https://cappadocia-hotels.com
https://caruscappadocia.com
https://brothersballoon.com
https://balloon-rides.net

https://paperio-live.com

Replica watches

https://agario.red

https://naughtyworms.com