Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions.
We describe the case of an adult female with Hallervorden-Spatz disease (HSD), "eye-of-the-tiger" sign on cranial magnetic resonance imaging scan, and two mutations in the pantothenate kinase 2 (PANK2) gene. Symptomatic presentation included stuttering dysarthria, dystonic posturing, increased limb and axial muscle tone, choreoathetosis, stereotyped motor behaviors, and obsessive-compulsive symptomatology since adolescence. Extensive neuropsychological testing at 40 and 44 years of age revealed a relatively normal IQ and stable cognitive pattern overall. This case demonstrates that HSD patients who survive into middle age should not be assumed to have a progressive dementia. In such cases, atypical behavioral problems such as persistent obsessions and compulsions may be present instead.
Nicholas
Anthony P
AP
Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama 35249-7340, USA. nicholas@uab.edu
Earnst
Kelly S
KS
Marson
Daniel C
DC
D000328:Adult; D001921:Brain / Q000473:pathology; D003072:Cognition Disorders / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D009483:Neuropsychological Tests; D009771:Obsessive-Compulsive Disorder / Q000150:complications* / Q000473:pathology; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000150:complications* / Q000473:pathology