Indian Journal of Radiology and Imaging Indian Journal of Radiology and Imaging

NEURORADIOLOGY
Year
: 2004  |  Volume : 14  |  Issue : 2  |  Page : 139--140

Hallervorden Spatz disease : A case report


R Kumar, R Gupta, V Chowdhury 
 Department of Radiodiagnosis, M.A.M.C. and Lok Nayak Hospital, Jawahar Lal Nehru Marg, Delhi- 110002, India

Correspondence Address:
R Kumar
198, Gagan Vihar, Delhi-110051
India

Abstract

Hallervorden Spatz disease is an uncommon degenerative disorder affecting neurons of the globus pallidus and presenting as progressive motor dysfunction. We present a case of HS disease evaluated on a 1.5 Tesla MR scanner.



How to cite this article:
Kumar R, Gupta R, Chowdhury V. Hallervorden Spatz disease : A case report.Indian J Radiol Imaging 2004;14:139-140


How to cite this URL:
Kumar R, Gupta R, Chowdhury V. Hallervorden Spatz disease : A case report. Indian J Radiol Imaging [serial online] 2004 [cited 2019 Oct 23 ];14:139-140
Available from: http://www.ijri.org/text.asp?2004/14/2/139/28568


Full Text

 Case Report



An eight year old boy presented with progressive gait impairment, slowing of voluntary movements and gradual diminution of vision. On clinical examination, there was generalised increase in tone in all four limbs and mild hyperreflexia. The patient was sent for an MR examination.

MR imaging was performed on a 1.5 Tesla MR scanner (Sonata, Siemens, Erlangen). The study revealed prominent T2 shortening in the region of globus pallidus extending inferiorly into the midbrain. Smaller zones of hyperintense signal on long TR images were seen within the area of T2 shortening.

 Discussion



Hallervorden Spatz disease is a metabolic disorder characterized clinically by gait impairment, limb rigidity, dystonic posturing, choreoathetosis, dysarthria, optic nerve atrophy and mental deterioration. Most patients are recognised in the second or third decade of life [1]. Both inherited (autosomal recessive) and sporadic cases are encountered. The disease was first reported by Hallervorden Spatz in 1924 in a 24 year old female who died from this neurologic disorder.

Gross pathology shows asymmetric brown discolouration due to iron deposition in the extrapyramidal nuclei. Two subtypes occur, the disease affects both the globus pallidus and pars reticulata of the substantia nigra in group 1 and only the globus pallidus in group 2. HSD is characterized by swelling of terminal portion of axons from accumulation of cellular constituents (axonal spheroids). This causes expansion and disintegration of myelin sheath followed by reactive gliosis. The demyelination and necrosis may cause T2 prolongation on long TR images [2] [Figure 1]a & b.

Iron deposition in HSD causes T2 shortening on MR. The proportion of dark and bright areas within the globus pallidus on T2 weighted scans may vary from patient to patient with the stage of the disease and magnetic field strength. At low fields, high signal intensity may predominate on T2W images [3]. In some cases, small areas of T2 prolongation may appear within the area of T2 shortening (eye of the tiger sign) [4] [Figure 2].

The differential diagnosis of abnormal low signal intensity within globus pallidus of a child on T2W scans includes hypothyroidism whereas in adults, Wilson's disease may give a similar appearance [5]. However, the typical clinical features and the hyperintensity within putamen in Wilson's disease helps in establishing an accurate diagnosis.

In conclusion, HSD is an important progressive neurological disorder and an awareness of this disease can help in establishing a diagnosis when an MR examination reveals abnormal hypointensity within globus pallidus on long TR sequences.

References

1Dooling EC, Shoene WC, Richardson EP. Hallervorden Spatz Syndrome. Arch Neurol 1974; 30: 70-83.
2Sethi KD, Adams RJ, Locing DW et al. Follow up MR studies in HS disease. J Comput Assist Tomogr 1990; 14: 118-120.
3Schaffert DA, Johnsen SD, Johnson PC, et al. Magnetic resonance imaging in pathologically proven HS disease. Neurology 1989; 39: 440-442.
4Littrup PJ, Gerharshi SS. Imaging of HS disease. J Comput Assist Tomogr 1985; 9: 491-493.
5Douglas H Yock. MRI of CNS disease: A teaching file. 2nd edition, St Louis: Mosby: 319.