Elsevier

Brain and Development

Volume 28, Issue 6, July 2006, Pages 343-347
Brain and Development

Original article
Clinical heterogeneity in Hallervorden-Spatz syndrome: A clinicoradiological study in 13 patients from South India

https://doi.org/10.1016/j.braindev.2005.11.007Get rights and content

Abstract

Hallervorden-Spatz syndrome (HSS) is a rare autosomal recessive neurodegenerative disorder of childhood. Thirteen patients with this syndrome seen over a period of 7 years were reviewed. Two distinct groups were identified. The early onset childhood group had uniform presentation with developmental delay, recurrent falls, gait abnormalities, cognitive deterioration and dystonia. This group was also characterised by familial incidence, retinal involvement and absence of behavioural problems. Late onset group, included patients with different presentations such as behavioural changes, optic atrophy and dystonia. Consanguinity was prominent in this study, being present in 61.5% patients. MRI (n=11) showed pallidal hyperintensity on T1-weighted images and hypointensity or ‘eye of the tiger’ sign on T2-weighted images. Two patients had acanthocytes in peripheral blood smear. This study emphasizes the phenotypic heterogeneity in HSS and as well brings out the common features shared by patients with early onset disease.

Introduction

Hallervorden-Spatz syndrome (HSS) is a rare neurodegenerative disorder characterised by accumulation of iron in the globus pallidus and substantia nigra. Onset of this disease can be at different age groups and heterogeneity in clinical presentation is common. Most widely used classification is the one by Swaiman (2001) who classified these patients into (1) early onset childhood type (diagnosis evident before 10 years of age) which included both rapidly and slowly progressive type, (2) late onset slowly progressive type with diagnosis evident after 10 years and before 18 years of age; and (3) adult onset slowly progressive type [1]. Many patients with this disease have mutations in the gene encoding pantothenate kinase 2 (PANK 2) on chromosome 20 [2]. In developing countries genetic studies are still not widely available and one has to depend on clinical and radiological features to make a diagnosis. We present in this paper the clinical and radiological features of 13 patients with childhood onset HSS.

Section snippets

Materials and methods

Medical records of 13 patients of HSS seen at our center between 1998 and 2005 were reviewed. Patients were diagnosed to have HSS based on the clinical and radiological criteria by Swaiman and Dooling [3], [4]. Obligatory features included onset during the first two decades of life, progression of signs and symptoms, evidence of extrapyramidal dysfunction and hypointense areas in the basal ganglia on MRI. Corroborative features included corticospinal tract involvement, progressive intellectual

Results

There were nine girls and four boys with mean age of 9.5 years (Range 5–21 years) from 11 families. The clinical profile of the patients is given in Table 1. The patients were divided into two groups according to the age of onset: early onset group with age of onset at or before 10 years (n=10) and late onset group with onset after 10 years (n=3). Consanguinity was present in eight out of 13 (61.5%) patients. Family history was present in five out of 13 patients (38.5%). Familial occurrence was

Discussion

Hallervorden-Spatz syndrome is a rare autosomal recessive disorder characterized by early onset of progressive movement disorder with dystonia, rigidity, and choreoathetosis, which is usually associated with pyramidal signs and mental deterioration. Apart from clinical symptomatology and MRI findings there are no specific biochemical markers for diagnosis of HSS. Recently, mutations in the gene encoding pantothenate kinase 2 (PANK 2) on chromosome 20 has been identified as a causative factor

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