Pantothenate kinase associated neurodegeneration (Hallervorden-Spatz syndrome).
Hallervorden-Spatz syndrome is a rare autosomal recessive hereditary condition characterized by early onset of progressive movement alteration that include dystonia, rigidity and choreoathetosis usually associated with pyramidal signs and mental deterioration. We report two sisters where diagnosis was missed till MRI showed classic imaging findings. Mutation analysis in one, revealed homozygous mutations in the PANK 2 gene. The need for clinical recognition of this entity and differentiation of this form from other static and progressive neurological illnesses is emphasized.
Kapoor
Seema
S
Division of Genetics, Maulana Azad Medical College & LN Hospital, New Delhi, India. seemam@vsnl.com
Hortnagel
Konstanze
K
Gogia
Siddhartha
S
Paul
Ritu
R
Malhotra
Vishal
V
Prakash
Anjali
A
D001921:Brain / Q000473:pathology; D002648:Child; D003951:Diagnostic Errors; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis* / Q000235:genetics; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*
D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase