Friday, July 31, 2015

Friedreich Ataxia in Classical Galactosaemia

Friedreich Ataxia in Classical Galactosaemia. Siobhán Neville, Siobhan O’Sullivan, Bronagh Sweeney, Bryan Lynch, Donncha Hanrahan, Ina Knerr, Sally Ann Lynch, Ellen Crushell; JIMD Reports, 29 Jul 2015, DOI 10.1007/8904_2015_477

Both conditions are known to occur with increased frequency amongst the Irish Traveller population. Neurological symptoms are easily attributed to an underlying diagnosis of galactosaemia. It is important to consider a diagnosis of Friedreich ataxia in a child from the Irish Traveller population with galactosaemia who presents with ataxia or cardiomyopathy.


Friedreich Ataxia in Classical Galactosaemia