An 18 years female presented with abnormal posturing oflimbs with progressive gait impairment, slowing of voluntarymovements, gradual diminution of vision and intelligencesince the past one year. On clinical examination, there wasgeneralised increase in tone in all four limbs and mildhyperreflexia. Fundoscopy revealed bilateral pigmentaryretinopathy. Laboratory investigations, which included urinemetabolic screening, urine copper and serum ceruloplasminwere within normal limits. Her peripheral smear showedacanthocytosis. MRI done revealed the classic ‘eye of tiger’appearance (Fig. 1). A diagnosis of Hallervorden Spatz wasmade based on clinical and MRI findings.

Hallervorden Spatz disease (HSD) falls in the category ofNeurodegeneration with brain iron accumulation (NBIA), agroup of progressive extrapyramidal disorders with radiologicevidence of focal iron accumulation in the brain .Inheritancepattern is autosomal recessive. Clinical features1 include earlyonset of progressive dystonia and intellectual impairment.Pigmentary retinopathy, choreoathetosis, pyramidal signs,optic atrophy, acanthocytosis are also frequently seen.Swaiman2 has described the clinical course as follows: (1) earlyonset childhood types; those with diagnosis before 10 yearsof life, either rapidly or slowly progressive (Type Ia and Ib),(2) Late onset types in which the diagnosis becomes apparentbetween 10 and 18 years (like our present patient) and (3)adult types. Characteristic pathological findings3 in HSD areneuroaxonal swelling and iron deposition in the globus pallidiof the lentiform nuclei.

MRI brain shows bilaterally symmetrical hyperintensechanges (gliosis) with peripheral hypointensity (irondeposition) in the globus pallidi on T2WI [eye-of-the-tiger sign]3, a feature highly suggestive of this disorder. In 2001, Zhou et al4 linked HSD with a defect in the gene (PANK2) on the shortarm of chromosome 20 (20p13) encoding the enzyme pantothenate kinase 2, involved in Coenzyme A synthesis. Hence thisdisorder was renamed Pantothenate Kinase Associated Neurodegeneration (PKAN). Oxidative stress due to accumulation ofcysteine in the absence of pyrophosphopantothenate probably causes the damage. PKAN is the first identified disorder ofpantothenate metabolism. To date the eye-of-the-tiger sign has been observed in all patients with PANK2 mutations.Itis a fairly specific sign and has not been seen in other non-PKAN NBIAs like neuroferritinopathy andaceruloplasminemia. This sign can be used to identify patients for PANK2 genetic testing and has accurately identifiedpresymptomatic siblings of affected children.

Oral medications that seem to provide the most relief include baclofen and trihexyphenidyl. L-dopa/carbibopa and bromocriptinecan be of some help. Therapies that have been tried to manage dystonia in some individuals with varying success includeintramuscular botulinum toxin and intratechal baclofen. Stereotactic pallidotomy and bilateral thalamotomy occasionally havebeen tried for patients with severe dystonia, resulting in partial relief of symptoms.5

*Lecturer, Department of Radiology and Imaging, Grant Medical College and Sir JJ Group of Hospitals, Byculla,
Mumbai - 400 008; **Consultant Radiologist, Lilavati Hospital and Research Centre, Bandra, Mumbai - 400 050.
Received : 4.4.2006; Revised : 25.5.2006; Accepted : 7.7.2006

REFERENCES

1.Angelini C, Nardocci N, Rumi V. Hallervorden Spatz disease: clinical and MRI study of 11 cases diagnosed in life. J Neuro1992;239:417-23.

2.Swaiman KF. Hallervorden Spatz disease. Pediatr Neurol 2001;25:102-8.

3.Schaffert DA, Johnsen SD, Johnson PC. MRI in pathological proven Hallervorden Spatz disease. Neurology 1989;39:440-2.

4.Zhou B, Westaway SK, Levinson B, Johnson MA, Gischier J, Hayflick SJ. A novel Pantothenate Kinase gene is defective in HallervordenSpatz syndrome. Nat Gen 2001;28:345-9.

5.Justesen CR, Penn RD, Kroin JS, et al. Stereotactic pallidotomy in a child with Hallervorden-Spatz disease. Case report. J Neurosurg1999;90:551-4.