Neuroaxonal Dystrophy with Brain Iron Deposition

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Neuroaxonal dystrophy with brain iron deposition or Hallervorden-Spatz disease is caused by mutations in the pantothenate kinase gene (PANK2) located on chromosome 20. The disease can occur from infancy through adulthood. Extrapyramidal symptoms and signs are in the foreground of the clinical picture: dystonic posturing, choreoathetotic movements, rigidity, and dysarthric speech. The movement disorders are associated with progressive mental deterioration. Specific diagnostic tests are not available. T2-weighted MRI is useful to show bilateral hypointensity (iron deposits) with a central hyperintense area (necrosis) in the globus palli-dus and in the reticular zone of the substantia nigra.

Pathology: Grossly, the brain shows bilateral softening and rusty discoloration of the globus pallidus. The histology is characterized by necrosis of the globus pal-lidus, iron-containing pigments in the globus pallidus and reticular zone of the substantia nigra, and the presence of axonal spheroids in the cerebral cortex and deep gray structures. The affected areas show neuronal losses and astrogliosis (Fig. 9.16).

Axonal Spheroids Lfb Stain

figure 9.16

Neuroaxonal dystrophy with iron deposition. An infant girl developed normally until 1 year of age, when she began to stumble and gradually lost her ability to walk. At 3 years of age, she was speechless, had pale optic discs, searching nystagmus, and stiff extremities. Over the ensuing years, she developed seizures and myoclonic jerks. At nine and a half years of age, she died. Thalamus shows (A) eosinophilic (HE) and (B) argyrophilic axonal spheroids (Bodian stain). C. Basophilic-iron-positive granules are deposited in basal ganglia (HE). D. The cerebellum shows extensive Purkinje cell losses (HE). E. Peripheral nerve shows myelin degeneration and small axonal spheroids (LFB-CV).

figure 9.16

Neuroaxonal dystrophy with iron deposition. An infant girl developed normally until 1 year of age, when she began to stumble and gradually lost her ability to walk. At 3 years of age, she was speechless, had pale optic discs, searching nystagmus, and stiff extremities. Over the ensuing years, she developed seizures and myoclonic jerks. At nine and a half years of age, she died. Thalamus shows (A) eosinophilic (HE) and (B) argyrophilic axonal spheroids (Bodian stain). C. Basophilic-iron-positive granules are deposited in basal ganglia (HE). D. The cerebellum shows extensive Purkinje cell losses (HE). E. Peripheral nerve shows myelin degeneration and small axonal spheroids (LFB-CV).

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