Refsum's disease is a
polyneuropathy due to a hereditary error in the metabolism of a
fatty acid,
phytanic acid, usually leading to
cardiac failure only at an advanced stage of the disease. The authors report the case of two brothers with
Refsum's disease revealed by a
heart failure before the clinical stage of the
peripheral neuropathy. In the younger brother, the affection started at the age of 22 years by an acute pulmonary oedema which revealed a dilated, hypokinetic
myocardiopathy, associated with
retinitis pigmentosa, ptosis,
anosmia and
biological myolysis. The normal plasma concentration of
phytanic acid measured several times led to the conclusion of
Kearns-Sayre syndrome even if certain aspects were atypical (moderate conduction disorders, no characteristic aspect in the muscle biopsy). Five years later, the older brother, aged 28, presents a
dyspnea on effort which leads to the discovery of a hypokinetic, hypertrophic
myocardiopathy, slightly dilated, associated with cardiac conduction disorders,
retinitis pigmentosa,
anosmia and
biological myolysis. The plasma concentration of
phytanic acid being very high.
Refsum's disease was diagnosed and the diagnosis of younger brother was corrected. From the study of these two cases, the characteristics of the
cardiac disorders can be specified: the cardiopathy can reveal the disease and correspond to a dilated or hypertrophic
myocardiopathy. The diagnosis of the disease can be difficult because the plasma
phytanic acid may remain at normal level, thus requiring the assay of the activity of phytanate oxydase. The existence of ophthalmologic signs (
retinitis pigmentosa or progressive
ophthalmoplegia externa) associated with a
myocardiopathy must systematically lead to a search for
Refsum's disease, this diagnosis having fundamental therapeutic implications (died, even
plasmapheresis).(ABSTRACT TRUNCATED AT 250 WORDS)