Hallervorden-Spatz disease is a neurodegenerative disorder associated with cysteine-iron complex accumulation typically seen as bilateral symmetrical hypointense signal changes in the medial globus pallidus on magnetic resonance imaging. Both familial and sporadic cases have been reported.

A 5-year-old boy presented with a 2 year history of abnormal flexor posturing of the right hand and wrist with clenching of the fist, abnormal speech, attention deficit and ataxic walking. His developmental milestones were delayed and speech was slurred with inability to speak difficult words. Over 6 months it became fixed and persistent and also involved the left hand. Subsequently, he developed extension of the neck and flexion of the trunk, with grimacing of the face, tight closure of the mouth and deterioration of speech and walking. He was the product of a non-consanguineous marriage and was born at 34 weeks gestations. MRI showed hypointensity on T1 weighted imaging in both globus pallidi and an area of central hyperintensity ("eye-of-the-tiger"-sign) in both globus pallidi on T2 weighted imaging. After the MRI findings, the cytogenetic analyse done and, it showed, c.628+2T>G(homozygote). This mutation hasn’t been defined before, so it should be valuable in diagnosing Hallervorden-Spatz patients.