MRI in infantile neuroaxonal dystrophy

doi:10.1016/0887-8994(89)90083-0

Pediatric Neurology

Volume 5, Issue 4, July–August 1989, Pages 245-248

https://doi.org/10.1016/0887-8994(89)90083-0 Get rights and content

Abstract

A 6-year-old boy with the typical clinical features of infantile neuroaxonal dystrophy was examined with magnetic resonance imaging. The findings suggested increased metal deposition in the globus pallidus. Magnetic resonance imaging findings of Hallervorden-Spatz syndrome and infantile neuroaxonal dystrophy are similar, suggesting that these two disease entities overlap. Magnetic resonance imaging findings, as well as relevant clinical features, may be useful in the diagnosis and classification of infantile neuroaxonal dystrophy.

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Cited by (16)

Infantile neuroaxonal dystrophy: What's most important for the diagnosis?
2008, European Journal of Paediatric Neurology
Citation Excerpt :
Finding spheroids in axons may be a time consuming process, which is justified when the diagnosis of INAD is strongly suspected based on clinical grounds and no mutations are detected in the PLA2G6 gene. The most characteristic MRI findings in INAD are diffuse cerebellar atrophy, mainly involving the inferior part of the vermis with signal hyperintensity of cerebellar cortex on T2-weighted images.21–24 The cerebellar abnormalities may be detected at a very early age.23
Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder, with onset in the first 2 years of life. Mutations in the PLA2G6 gene were identified in patients with infantile neuroaxonal dystrophy. Our purpose was to review clinical, neurophysiologic, neuroradiologic and neuropathological features of our patients in order to identify the earliest signs of disease. We also correlate these data with the genotype in the mutation positive patients.
We reviewed the clinical reports, neurophysiologic and neuropathological studies and brain imaging of our patients. In five patients molecular analysis of the PLA2G6 gene was performed.
We report 10 patients with infantile neuroaxonal dystrophy. Earliest symptoms presented between 6 and 18 months of age. The first manifestations were arrest in the acquisition of milestones or regression. The first neurological signs were generalized hypotonia and pyramidal signs.
Fast rhythms on EEG were observed in all patients.
Brain imaging studies showed cerebellar atrophy in all patients, with signal hyperintensity in the cerebellar cortex on T2-weighted images in five. All cases had characteristic axonal spheroids on skin biopsy.
Mutations in the PLA2G6 gene were identified in the five patients studied. Three of them had the same homozygous mutations 2370T> G, Y790X.
Though mutations were detected in the patients studied, a clear genotype–phenotype correlation could not be ascertained. In the appropriate clinical context, characteristic brain imaging and fast rhythms on EEG can support the decision to perform molecular analysis and avoid skin biopsy to confirm diagnosis.
The nosology of Hallervorden-Spatz disease
1995, Journal of the Neurological Sciences
The development of magnetic resonance imaging has increased the number of clinical and pathological reports of Hallervorden-Spatz disease and Hallervorden-Spatz syndrome. The case-to-case variability is considerable. However, if gene loci and basic pathogenetic mechanisms are to be appreciated, it is imperative that like cases be compared and studied. The designation Hallervorden-Spatz disease should be reserved for the pediatric neurodegenerative disorder, recognizing that it occurs either as a familial or a sporadic disorder. The diagnosis of Hallervorden-Spatz syndrome is non-specific and encompasses a number of distinctive disorders, each having the pallidal triad of iron deposition, axonal spheroids, and gliosis. Clinically or pathologically distinct groups include (a) female patients with dementia, quadriparesis, and neurofibrillary tangles; (b) cases with Lewy bodies; and (c) cases with or without lipid abnormalities which have acanthocytosis and pigmentary retinal degeneration. Adult-onset cases are quite variable, both clinically and pathologically. Iron deposition in the globus pallidus separates these disorders from others in which axonal spheroids occur. Undoubtedly, the pallidal changes are related, some being primary and other possibly epiphenomena. Pathogenetic insights can only be achieved by investigating and comparing like cases.
Bilateral striatal lesions in childhood
1993, Pediatric Neurology
From 1983 to 1991, 13 patients were identified with a clinical radiologic association characterized by acute or persistent neurologic dysfunction and bilateral lesions in the basal ganglia region demonstrated by ultrasound, computed tomography, or magnetic resonance imaging. Initial clinical manifestations of this group of patients were characterized by extrapyramidal signs (i.e., dystonia 9, hypotonia 2, athetosis 1, rigidity 1), altered state of consciousness in 5, and seizures in 3. The outcomes of most of these patients were poor: 10 had motor sequelae, 9 cognitive impairment, and 4 died. The outcomes of 2 patients, however, were much better than what was expected from the initial presentation. Based on current and previous reports, the diagnostic approach and classification of patients with neurologic dysfunction and bilateral striatal lesions are presented.
Infantile neuroaxonal dystrophy: A rare cause of early childhood ataxia with poor prognosis
2013, Klinische Padiatrie
Clinical and genetic delineation of neurodegeneration with brain iron accumulation
2009, Journal of Medical Genetics
Mixed hypotonia, neurological regression and atrophy of the cerebellum: Manifestations that suggest infantile neuroaxonal dystrophy
2003, Revista de Neurologia

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Case reportMRI in infantile neuroaxonal dystrophy

Abstract

J Neurol Sci

Infantile neuroaxonal dystrophy

Brain

Infantile neuroaxonal dystrophy. Ultrastructural study of the peripheral nerves and the motor end plates

Eur Neurol

Infantile neuroaxonal dystrophy: Cortical axonic and presynaptic changes

Acta Neuropathol

Infantile neuroaxonal dystrophy (Seitelberger's disease). Histological and electron microscopical study of two cases

Acta Neuropathol

Infantile neuroaxonal dystrophy. Ultrastructural study of peripheral nerve

Acta Neuropathol

Skin and conjunctival biopsies in infantile neuroaxonal dystrophy

Acta Neuropathol

Case report
MRI in infantile neuroaxonal dystrophy