A child with Refsum's disease: successful treatment with diet and plasma exchange.
A child with Refsum's disease presented with cardiac failure, marked muscle wasting, weakness and inco-ordination. Management with multiple plasma exchanges and dietary restriction of phytanic acid intake has reversed the disabling features of the disease, although levels still remain higher than target values. Low phytanic acid intake is being achieved by restriction of total fat to 10 to 12 g/day, while allowing free amounts of fruit and green vegetables.
Dickson
N
N
Dunedin Hospital, New Zealand.
Mortimer
J G
JG
Faed
J M
JM
Pollard
A C
AC
Styles
M
M
Peart
D A
DA
D002648:Child; D003131:Combined Modality Therapy; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D009460:Neurologic Examination; D010833:Phytic Acid / Q000008:administration & dosage* / Q000097:blood; D010951:Plasma Exchange; D012035:Refsum Disease / Q000097:blood / Q000178:diet therapy / Q000628:therapy*
D010833:Phytic Acid