Hallervorden-Spatz disease: 3 cases report and review of literatures

• Main Authors: Shi-nan WANG, Bin SUN, Nan DING, Shu LI
• Format: Article
• Language: English
• Published: Tianjin Huanhu Hospital 2014-02-01
• Series: Chinese Journal of Contemporary Neurology and Neurosurgery
• Subjects: Pantothenate kinase-associated neurodegeneration; Globus pallidus; Magnetic resonance imaging
• Online Access: http://www.cjcnn.org/index.php/cjcnn/article/view/896

<strong>Objective</strong> To review and explore the clinical and imaging characteristics of Hallervorden-Spatz disease (HSD). <strong>Methods and Results</strong> The clinical features of 3 patients with HSD were analyzed retrospectively. Case 1 was male with the onset age of 3 and duration for 5 years. The main positive signs of case 1 were paroxysmal involuntary twist of limbs, accompanied by sweeping fingers and clenched fists, with intermittent opisthotonos. T2WI showed symmetrical hypointensity in bilateral globus pallidus with central pieces of uniform hyperintensity. Case 2 was female with the onset age of 8 and duration for 12 years. The main positive signs of case 2 were persistent head and neck dystonia showing excessive supine position. T2WI showed irregular hyperintensity focusing on anteromedial of globus pallidus. The main clinical manifestations of the 2 cases were extrapyramidal symptoms, which conformed to classical "eye-of-the-tiger sign". They were clearly diagnosed as typical HSD. Case 3 was male with the onset age of 15 and duration for 29 years. The main clinical features of case 3 included spastic gait and remarkable dysarthria. The extrapyramidal symptoms were atypical, which lacked of involuntary movements. Case 3 had classical "eye-of-the-tiger sign" at the age of 15 years old, however, "eye-of-the-tiger sign" (globus pallidus high signals) were obviously shrunk 20 years later. Therefore, this case belonged to atypical HSD. <strong>Conclusions</strong> According to the above mentioned, typical HSD was characterized by onset at childhood and short duration, and could be diagnosed according to extrapyramidal symptoms, and typical "eye-of-the-tiger sign" on T2WI. Atypical HSD was characterized by onset at childhood and relatively longer duration; the extrapyramidal symptoms might be atypical, and "eye-of-the-tiger sign" of T2WI probably played as dynamic changes along with the course extension. <br />doi：10.3969/j.issn.1672-6731.2014.02.008<br />