Smell testing: an additional tool for identification of adult Refsum's disease.
BACKGROUND
Adult Refsum's disease (ARD) is characterised by the presence of retinitis pigmentosa, ataxia, deafness, sensory neuropathy, and bony changes. The diagnosis is confirmed by the presence of phytanic acidaemia. Although reduced smell function has been described in ARD, its value in the diagnosis of the condition has not been fully evaluated.


OBJECTIVE
To investigate the prevalence and degree of olfactory dysfunction in patients with ARD.


METHODS
The olfactory function of 16 patients with ARD was assessed using the quantitative University of Pennsylvania Smell Identification Test (UPSIT).


RESULTS
All patients had complete anosmia or grossly impaired smell function with a mean UPSIT score of 14.7 (SD 4.7) (normal > 34) despite having been treated with an appropriate diet for a median of 15 years (range 1-25).


CONCLUSIONS
Identification of ARD patients can be facilitated by using the UPSIT in combination with the presence of retinitis pigmentosa, even if they have no neurological or bony features. Phytanic acid screening should be performed in any patient manifesting these two signs.
Refsum's Disease Clinic, Chelsea & Westminster Hospital, 369 Fulham Road, London SW10 9NH, UK.
F B
FB
Gibberd
M D
MD
Feher
M C
MC
Sidey
A S
AS
Wierzbicki
D000293:Adolescent; D000328:Adult; D000368:Aged; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D000857:Olfaction Disorders / Q000209:etiology*; D015995:Prevalence; D012035:Refsum Disease / Q000150:complications / Q000175:diagnosis*; D012174:Retinitis Pigmentosa / Q000209:etiology; D012680:Sensitivity and Specificity