Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life

Abstract

The diagnosis of Hallervorden-Spatz disease (HSD) has usually been made post mortem, although the recent description of characteristic abnormalities in the globus pallidus has suggested the possibility of an in vivo diagnosis. We present the clinical histories, neurological features and MRI findings of 11 patients, diagnosed as having HSD. Generalized dystonia with predominance of oromandibular involvement, behavioural changes followed by dementia and retinal degeneration were present in all the patients. MRI pallidal abnormalities consisted of decreased signal intensity in T2-weighted images, compatible with iron deposits, and of a small area of hyperintensity in its internal segment ("eye of the tiger" sign). We propose that the combination of these neurological signs with these MRI findings could be considered as highly suggestive of a diagnosis of HSD in living patients.

Diffusion Tensor MR Imaging in Children with Pantothenate Kinase−Associated Neurodegeneration with Brain Iron Accumulation and Their Siblings

“…This signal intensity distribution is characteristically described as the "eye-of-the-tiger sign." 6,9 Hayflick et al 6 have reported that all patients with the eye-of-the-tiger sign, whether classic or atypical, show PANK2 mutations.…”

Iron Deposits in the Subthalamic Nuclei in Hallervorden-Spatz Disease

“…Ferrokinetic studies reported an as much as twice the normal uptake of 59 Fe in the basal ganglia, but this finding has not been consistent enough to have clinical utility [4]. MRI scans of these patients show prominent hypointensities in the globi pallidi consistent with iron deposits and allow the antemortem diagnosis of HS [3, 5, 6]. …”

“…Hallervorden-Spatz disease (HS) is a rare neurologic disorder characterized by clinical symptoms such as progressive dystonia, mental deterioration, rigidity and retinal degeneration [1, 2, 3]. Characteristic neuropathologic findings are deposition of iron-staining pigments in both globi pallidi, substantia nigra, and red nuclei associated with pallidal demyelination and focal axonal swelling distributed in the pallidonigral system [2].…”

«Et høist mærkeligt Sygdomstilfælde hos flere Sødskende» – en norsk førstegangsbeskrivelse fra 1830?

“…Noen er så raskt progredierende at barna aldri laerer å gå. Tilstander som Wilsons sykdom, hexosaminidase A-mangel, GM1-galaktosidasemangel, ceroid lipofuscinose, LeschNyhans sykdom, gangliosidoser og Huntingtons sykdom kan alle innebaere dystonier, men ser man på debut og levealder, arveform, progrediering og hele forløpet i sammenheng, synes ikke noen av disse tilstandene å vaere aktuelle (8,10,12).…”

“…Medikamentell behandling av dystoni og spastisitet blir brukt (9,12), og både baklofenpumpe og dyp hjernestimulering (deep brain stimulation) forsøkes (17). Ortopediske inngrep kan korrigere feilstillinger noe, og det blir gitt sondeernaering gjennom gastrostomi.…”