Atypical pantothenate kinase-associated neurodegeneration: Clinical description of two brothers and a review of the literature.

This report describes two siblings with the atypical form of PKAN, combining dystonia, irritability and a dysmorphia syndrome. In addition, a review of the literature was carried out for all published cases of atypical PKAN to gather descriptions of its various clinical presentations, age of onset and MRI findings, and to highlight the different treatments used for PKAN patients.
PMID: 28629633 [PubMed - as supplied by publisher]

Source: Revue Neurologique - June 22, 2017 Category: Neurology Tags: Rev Neurol (Paris) Source Type: research