A CASE REPORT: REFSUM'S DISEASE

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AZMA K.; REZA SOLTANI Z.; ASHEGHAN M.; ETEFAGH L.; GHAYOUMI A.; NASR ELAHZADEH MEHRDAD

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Journal: Annals of Military and Health Sciences Research Year:2005 | Volume:3 | Issue:2 ((SERIAL NUMBER 10) Page(s): 591-593

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Title

A CASE REPORT: REFSUM'S DISEASE

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Keywords

DISORDER OF LIPID METABOLISMQ4

MOTOR AND SENSORY NEUROPATHYQ4

REFSUM'S DISEASEQ4

Abstract

Background: REFSUM'S DISEASE is an autosomal recessive disorder. The clinical features include retinitis pigmentosa, blindness, anosmia, deafness, ataxia and accumulation of phytanic acid in plasma.Case report: A 12-year old boy presented with retinitis pigmentosa, sensorineural deafness and distal lower limb weakness and wasting from two years ago. Physical examination did not reveal an objective area of sensory loss. We detected muscles wasting in bilateral legs. Deep tendon reflexes at the ankles and knees were absent bilaterally. Upper limb reflexes were decreased and his gait was ataxic. In electrodiagnostic study, findings were compatible with MOTOR AND SENSORY NEUROPATHY. Phytanic acid in serum analysis was highly raised.Conclusions: Although rare, REFSUM'S DISEASE is partially treatable and early recognition may prevent visual and auditory deterioration.

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APA: Copy

AZMA, K., REZA SOLTANI, Z., ASHEGHAN, M., ETEFAGH, L., GHAYOUMI, A., & NASR ELAHZADEH, MEHRDAD. (2005). A CASE REPORT: REFSUM'S DISEASE. ANNALS OF MILITARY AND HEALTH SCIENCES RESEARCH, 3(2 ((SERIAL NUMBER 10)), 591-593. SID. https://sid.ir/paper/96753/en

Vancouver: Copy

AZMA K., REZA SOLTANI Z., ASHEGHAN M., ETEFAGH L., GHAYOUMI A., NASR ELAHZADEH MEHRDAD. A CASE REPORT: REFSUM'S DISEASE. ANNALS OF MILITARY AND HEALTH SCIENCES RESEARCH[Internet]. 2005;3(2 ((SERIAL NUMBER 10)):591-593. Available from: https://sid.ir/paper/96753/en

IEEE: Copy

K. AZMA, Z. REZA SOLTANI, M. ASHEGHAN, L. ETEFAGH, A. GHAYOUMI, and MEHRDAD NASR ELAHZADEH, “A CASE REPORT: REFSUM'S DISEASE,” ANNALS OF MILITARY AND HEALTH SCIENCES RESEARCH, vol. 3, no. 2 ((SERIAL NUMBER 10), pp. 591–593, 2005, [Online]. Available: https://sid.ir/paper/96753/en

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