Refsum's Syndrome Heredopathia Atactica Polyneuritiformis

Refsum's syndrome: report of three cases

“…Nevin et al (1967) recorded a level of 2'6 % of TFA in the asymptomatic mother of one of their cases. From these observations it would appear that phytanic acid estimation is likely to be of little value in the identification ofcarriers ofthe disease.…”

“…The term heredopathia atactica polyneuritiformis (HAP) was later preferred by Refsum in view of important differences from the other heredofamilial ataxias (Refsum, 1946). A number of case reports followed the definitive description (Reese and Bareta, 1950;Clark and Critchley, 1951;Ashenhurst, Millar, and Milliken, 1958;Gordon and Hudson, 1959;Alexander, 1966;Nevin, Cumings, and McKeown, 1967) but less than 50 cases have been reported in the world literature over the space of 24 years-an indication of the rarity of the condition.…”

“…The disorder remained undefined until Klenk and Kahlke (1963) reported the presence of abnormal concentrations of 3, 7, 11, 15 tetramethylhexadecanoic acid (phytanic acid) in the blood and tissues of a patient with Refsum's syndrome. This substance has been regularly identified in cases reported subsequently (Alexander, 1966;Nevin, Cumings and McKeown, 1967;Campbell and Williams, 1967). Phytanic acid is present in the blood and tissues of normal persons (Avigan, 1966), but in such minute quantities as to be undetectable by standard procedures such as gasliquid chromatography, which, therefore, provides an essentially qualitative diagnostic procedure.…”

Heredopatia atática polineuritiforme

“…6 > 10 , cujo achado no soro é atualmente considerado fundamental para o diagnóstico 7 . Dietas pobres em ácido fitânico levam a que se observe melhoria na evolução de pacientes com a doença 4 .…”

“…Em 1967, Nevin e col. 7 referiam que pouco mais de 40 casos da doença foram registrados na literatura, segundo distribuição geográfica que sugere a possibilidade de serem os pacientes de origem escandinava.…”