Neuroradiology 1999 May;41(5):376-80

Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients.

Farina L, Nardocci N, Bruzzone MG, D'Incerti L, Zorzi G, Verga L, Morbin M, Savoiardo M

Department of Neuroradiology, Istituto Nazionale Neurologico C. Besta, Milan, Italy.

We report the imaging findings in 11 patients with infantile neuroaxonal dystrophy. Ten patients underwent 15 MRI examinations; one patient had only CT. Of the ten patients who underwent MRI, eight had cerebellar atrophy and mildly increased signal from the cerebellar cortex on T2-weighted images. With T2 weighting there was slightly increased signal from the dentate nuclei in two patients and from the posterior periventricular white matter in three. We saw four patients with a thin optic chiasm. The only two brothers in the series had markedly low signal from the globus pallidus and substantia nigra on 1.5 T T2-weighted images, as seen in Hallervorden-Spatz disease (HSD). Abnormalities of the globus pallidus may be related to a protracted course of the disease. However, an overlap with HSD should be considered.

[PubMed REF] UI: 99306266

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Arch Fr Pediatr 1993 Jan;50(1):35-7

[Contribution of nuclear magnetic imaging in the diagnosis of Hallervorden-Spatz syndrome].[Article in French]

Pedespan JM, Fontan D, Castell JF, Langlade P, Guillard JM

Unite de Neurologie Infantile et d'Imagerie Pediatrique, Hopital des Enfants, Bordeaux.

BACKGROUND. The manifestations of the Hallervorden-Spatz disease (HSD) usually appear during childhood or in adults. They are not specific and magnetic resonance imaging (MRI) has improved its diagnosis. CASE REPORT. A girl developed progressive motor difficulties, dystony, rigidity, spasticity and mental deterioration, beginning at the age of 18 months. Examination at the age of 13 years showed pigmentary degeneration of the retina and acanthocytosis. The CT scan showed symmetrical calcifications in both globus pallidus. The MRI showed heterogeneity of the globus pallidus, decreased signal intensity of magnetic resonance T2-weighted images with an aspect of "tiger eye". CONCLUSION. The MRI show peculiar signs that may help in the diagnosis of HSD, and eventually in genetic counselling.

[PubMed REF] UI: 93282755

AJNR Am J Neuroradiol 1993 Jan-Feb;14(1):155-62

Hallervorden-Spatz disease: MR and pathologic findings.

Savoiardo M, Halliday WC, Nardocci N, Strada L, D'Incerti L, Angelini L, Rumi V, Tesoro-Tess JD

Department of Neuroradiology, Istituto Nazionale Neurologico C. Besta, Milano, Italy.

PURPOSE: To compare the MR findings of eight cases with clinical diagnosis of Hallervorden-Spatz disease (HSD) with the pathologic findings of two other cases of HSD. MATERIALS AND METHODS: The eight imaged cases were studied with 0.5-T (seven cases) and/or 1.5-T (five cases) units. Six patients also had CT scans. The two other cases with proven HSD had detailed histologic evaluation. RESULTS: The 1.5-T findings showed abnormalities confined to the pallidum, which presented a diffuse low signal intensity in T2-weighted images, and an anteromedial area of high signal intensity (eye-of-the-tiger sign). In 0.5-T studies, low signal intensity was less evident and poorly detectable in spin echo, but gradient-echo images could enhance its demonstration; the area of high signal intensity was always well demonstrated. In three cases (three with 1.5 T, one with 0.5 T) a central spot of low signal intensity was seen in this area. The pathologic cases, in addition to neuroaxonal swellings and iron deposits, exhibited areas of "loose" tissue with vacuolization and lesser amounts of iron in the anteromedial part of the pallidum, in a location corresponding to the area of high signal intensity of the imaged cases. CONCLUSION: Comparison of MR findings with the pathologic studies demonstrates that the low signal intensity in T2-weighted images at 1.5 T corresponds to iron deposits in a dense tissue, and that the high signal intensity of the eye-of-the-tiger sign corresponds to an area of loose tissue with vacuolization. No correlation was found in the two pathologic cases for the central spot of low signal intensity.

[PubMed REF] UI: 93151048