Canavans Disease or Spongy Degeneration

Canavan's disease, spongy degeneration of the neuroaxis, is an autosomal recessive disorder caused by deficiency of the enzyme N-aspartoacylase, encoded by a gene on chromosome 17. Subsequently, the amino acid N-acetyl aspartic acid accumulates in the cerebrospinal fluid (CSF) and brain and is excreted in urine. Onset is in early infancy; blindness and macrocephaly are characteristic clinical features.

The cerebral pathology is distinguished by (a) the lack of myelination, extensive vacuolation, and spongy degeneration of the white matter; (b) the presence of a few sudanophilic myelin breakdown products in some

Metachromatic Leukodystrophy

figure 9.1 1

Juvenile metachromatic leukodystrophy. The disease of an 8-year-old boy began with a decline in his school performance, daydreaming, and aimless scribbling. At age 11, he had his first grand mal seizure. Over the ensuring years, his mental and motor functions rapidly deteriorated. First, he became speechless and unable to stand or walk; then he became bedridden, with his extremities in flexion contractures. After a 12-year course, at age 20 years, he died. His younger sister developed a similar illness and died before him. A and B. On transverse sections the hemispheric white matter from the frontal to the occipital lobes is reduced in volume, sunken, yellow, and gelatinous. C. Occipital lobe shows total loss of myelin and relative sparing of arcuate fibers. D. Myelin loss is total in the cerebellum and almost total in the pons (Weil stain). E. Brown, metachromatically stained myelin breakdown products are abundant in the subcortical white matter. F. Peripheral nerve shows myelin degeneration with metachromatic granules. G. Metachromatic granules are present in tubular epithelium of kidney (acidic Cresyl-violet).

figure 9.1 1

Juvenile metachromatic leukodystrophy. The disease of an 8-year-old boy began with a decline in his school performance, daydreaming, and aimless scribbling. At age 11, he had his first grand mal seizure. Over the ensuring years, his mental and motor functions rapidly deteriorated. First, he became speechless and unable to stand or walk; then he became bedridden, with his extremities in flexion contractures. After a 12-year course, at age 20 years, he died. His younger sister developed a similar illness and died before him. A and B. On transverse sections the hemispheric white matter from the frontal to the occipital lobes is reduced in volume, sunken, yellow, and gelatinous. C. Occipital lobe shows total loss of myelin and relative sparing of arcuate fibers. D. Myelin loss is total in the cerebellum and almost total in the pons (Weil stain). E. Brown, metachromatically stained myelin breakdown products are abundant in the subcortical white matter. F. Peripheral nerve shows myelin degeneration with metachromatic granules. G. Metachromatic granules are present in tubular epithelium of kidney (acidic Cresyl-violet).

figure 9.12

Globoid leukodystrophy. A. Single and clustered globoid cells are dispersed in the demyelinated cerebral hemisphere. B. Higher magnification view of multi-nucleated globoid cells (HE).

figure 9.12

Globoid leukodystrophy. A. Single and clustered globoid cells are dispersed in the demyelinated cerebral hemisphere. B. Higher magnification view of multi-nucleated globoid cells (HE).

Sudanophilic Leukodystrophy

figure 9.13

Canavan's disease in a 6-year-old profoundly retarded, blind, quadriplegic, macrocephalic boy. A. Transverse sections from the 1,465 g brain shows markedly reduced and soft hemispheric white matter. B. There is total absence of myelin in the frontal lobe (Weil stain). C. The white matter is vacuo-lated and spongy. D. The cerebellar white matter, and to some extent the cortex, are vacuolated and spongy (HE).

myelinated regions; and (c) the presence of large protoplasmic astrocytes in gray structures (Fig. 9.13).

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Peripheral Neuropathy Natural Treatment Options

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