Gauchers Disease

Gaucher's disease, a systemic lipidosis, is caused by deficient activity of the enzyme P-glucosidase, encoded by a gene located on chromosome 1. Subsequently, gluco-cerebrosides accumulate in the visceral organs and the brain. Among the three clinical phenotypes, the nervous system is affected in type 2 and type 3. Hepatospleno-megaly is evident in both. In infants, type 2 presents with bulbar symptoms, strabismus, and pyramidal and extrapyramidal symptoms. The clinical course averages 3 to 4 years. In juveniles and adults, type 3 presents with horizontal supranuclear gaze palsy, bulbar symptoms, cognitive decline, myoclonus, and seizures. The clinical course averages 10 to 15 years.

FIGURE 9.3

Niemann-Pick disease. Ballooned Purkinje cells in the cerebellum with distended dendrites (HE).

FIGURE 9.3

Niemann-Pick disease. Ballooned Purkinje cells in the cerebellum with distended dendrites (HE).

FIGURE 9.4

Gaucher's disease. Gaucher cell in the hemispheric white matter (HE).

disease is characterized by angiokeratomas of the skin; cornea opacities; burning pain in extremities; gastrointestinal, renal, and cardiovascular disorders; and strokes.

The pathology consists of glycolipid storage in the neurons and glial cells in the central, peripheral, and autonomic nervous systems, and in macrophages in the vascular walls and affected organs.

FIGURE 9.4

Gaucher's disease. Gaucher cell in the hemispheric white matter (HE).

Presence of Gaucher cells characterizes the pathology (Fig. 9.4). These cells of monocyte/macrophage origin are dispersed throughout the cerebral cortex, deep gray structures, and white matter. Neuronal losses are prominent. Gaucher cells are evident in the liver, spleen, lymph nodes, and bone marrow.

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