Noninfantile Refsums Disease

This lipidosis, also known as heredopathia atactica polyneuritiformis, is a familial disorder characterized clinically by retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and high protein levels in the cerebrospinal fluid without pleocytosis. Cardiac involvement and nerve deafness occur in almost all patients as well. Ihe accumulated material is phytanic acid. This condition is distinct from the peroxisomal disorder of infantile Refsum's disease, in which phytanic acid accumulation is not the primary metabolic defect but a secondary result of peroxisome assembly.

In Refsum's disease, the first clinical symptom is usually night blindness and clumsiness. Neuropathy develops slowly and is associated with sensory loss, atrophy, and distal weakness. Electromyographic findings include slowed conduction velocities. Although neuropathy may contribute to some of the cerebellar findings, there appears to be true cerebellar ataxia in this condition. Ihe age of neurological disability onset is highly variable from childhood to the sixth decade but usually occurs in adolescence and young

adulthood. In association, cardiac involvement is of clinical significance, and tachycardia, systolic murmurs, and conduction disturbances occur. Fatal cardiac arrhythmias may be responsible for several cases of documented sudden deaths in untreated patients with Refsum's disease.

Refsum's disease is caused by high tissue levels of phytanic acid, a fatty acid that ordinarily is hydroxylated and oxidized within peroxisomes. y It is most likely that alpha- hydroxylation is the specific impaired step in the metabolic pathway. As a result of impaired degradation, up to 30 percent of total plasma fatty acids in patients with Refsum's disease is phytanic acid. Genetic studies indicate that Refsum's disease is inherited as an autosomal recessive disorder. It must be differentiated from other neurological syndromes with neuropathy and ataxia, such as Friedreich's ataxia and Charcot-Marie-Iooth and their variants. Elevated plasma phytanic acid levels eliminates these diagnoses. On the other hand, phytanic acid accumulation is not unique to Refsum's disease and other peroxisome assembly disorders (e.g., Zellweger's syndrome, neonatal adrenoleukodystrophy, and infantile Refsum's disease) show abnormally high levels of this acid. Therefore, the diagnosis is based on the match between the clinical and biochemical pictures.

Control of dietary sources of phytanic acid and free phytol is essential to the rehabilitation of patients with Refsum's disease. Because the main dietary origins of these products are dairy products and ruminant meats, these foods are systematically eliminated. y Improvement is slow, and plasmapheresis is used as an adjunct to hasten clinical recovery. Retinal damage and nerve damage do not improve, but the other signs may substantially abate over a very prolonged period.

Peripheral Neuropathy Natural Treatment Options

Peripheral Neuropathy Natural Treatment Options

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