Elsevier

Pediatric Neurology

Volume 25, Issue 2, August 2001, Pages 166-169
Pediatric Neurology

Case report
Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome

https://doi.org/10.1016/S0887-8994(01)00296-XGet rights and content

Abstract

Two families are presented in which siblings of children affected with Hallervorden-Spatz syndrome exhibited characteristic cranial magnetic resonance imaging changes before developing clinical features of the disease. Linkage to a major locus on chromosome 20p supported the diagnosis of Hallervorden-Spatz syndrome. In some patients with Hallervorden-Spatz syndrome, iron is radiographically evident before the onset of clinical symptoms.

Introduction

Hallervorden-Spatz syndrome (MIM# 234200) is a childhood-onset neurodegenerative disorder associated with brain iron accumulation [1], [2]. The diagnosis in a child with neurologic changes usually is first suspected after cranial magnetic resonance imaging (MRI), which reveals an area of hypointensity in the globus pallidus with a central region of hyperintensity on T2-weighted images, the so-called eye-of-the-tiger sign [3], [4], [5], [6]. This report describes two families, each with an affected child, in which a sibling revealed presymptomatic cranial MRI changes characteristic of the disease.

Section snippets

Case reports

In both families the parents requested that their other children be evaluated for Hallervorden-Spatz syndrome. Each child was examined by the pediatric neurologist who had diagnosed the affected sibling, and all children underwent cranial MRI, except Patient 7. Linkage analysis was performed on DNA samples from members of each family with markers near the gene locus for Hallervorden-Spatz syndrome, called NBIA1, on chromosome 20p13 [7]. Pedigrees are illustrated in Figure 1.

Discussion

In two families with Hallervorden-Spatz syndrome, we have diagnosed a child on the basis of characteristic cranial MRI changes and shared haplotypes with affected siblings before their developing clinical signs or symptoms. At the time of diagnosis of the proband in each family, the parents requested that all siblings be evaluated for Hallervorden-Spatz syndrome. Clinical, radiographic, and genetic studies of the siblings were conducted. In each sibship, one unaffected child was ascertained.

Acknowledgements

The authors thank the families with Hallervorden-Spatz syndrome, without whom this study could not have been performed. A. Malone and S. Bae provided valuable technical assistance. This work was supported in part by NIH grants 1R01 EY12353 and 5K23 EY00348 to SJH.

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