AI Article Synopsis
- Hallervorden-Spatz syndrome is a rare genetic disorder that causes early-onset movement issues like dystonia, rigidity, and choreoathetosis, accompanied by mental decline.
- The diagnosis was initially overlooked in two sisters until MRI revealed characteristic imaging patterns.
- Genetic testing in one sister identified homozygous mutations in the PANK2 gene, highlighting the importance of correctly identifying and distinguishing this syndrome from other neurological conditions.
Article Abstract
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.
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