Refsum's syndrome: report of three cases

Quinlan, Christie; Martin, E

doi:10.1136/jnnp.33.6.817

Cited by 11 publications

(8 citation statements)

References 22 publications

(42 reference statements)

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“…Group 3. These are symptoms and signs which change rapidly (26,27,28). Sudden deterioration is usually associated with a decreased calorie intake.…”

Section: Clinicalmentioning

confidence: 99%

Heredopathia atactica polyneuritiformis: Refsum's disease

Gibberd

Billimoria

Goldman

et al. 2009

Acta Neurologica Scandinavica

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– Seven patients with Heredopathia Atactica Polyneuritiformis are described. There were 3 groups of clinical characteristics: first, congenital abnormalities such as skeletal deformities, unrelated to phytanic acid levels; second, signs and symptoms such as retinitis pigmentosa which come on slowly and are not directly related to the plasma phytanic acid level; third, lesions such as the neuropathy, rash and cardiac arrhythmias which can change quickly and are linked to the plasma phytanic acid level. Exacerbations of the signs in the third group are precipitated by a low calorie intake and mobilisation of phytanic acid from the adipose tissue. Poor vision is due not only to retinitis but also to small pupils which fail to dilate in the dark. The use of plasma exchange is discussed. With good dietary supervision it is possible to produce a considerable clinical recovery for the neuropathy.

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“…Group 3. These are symptoms and signs which change rapidly (26,27,28). Sudden deterioration is usually associated with a decreased calorie intake.…”

Section: Clinicalmentioning

confidence: 99%

Heredopathia atactica polyneuritiformis: Refsum's disease

Gibberd

Billimoria

Goldman

et al. 2009

Acta Neurologica Scandinavica

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“…The disease is a rarity, and to date only 73 cases have been published (Refsum, 1975) with necropsy reports in 20 of these. In Ireland nine cases (including the two reported in the present communication) have been recorded from three families, (Ashenhurst et al, 1958;Nevin et al, 1967;Quinlan and Martin, 1970). Most cases in the world literature have been of Scandinavian origin, and it may be significant that the family name of Skillen in the present cases is of Norse origin, and is found around Strangford Lough in Northern Ireland where most of the islands bear Norse names (Gibbie, personal communication, 1976).…”

Section: Discussionmentioning

confidence: 64%

“…The effect of a diet low in phytanic acid on the course of this disease was first described by Eldjarn et al (1966), and more recent reports have confirmed that some patients improve on this treatment (Quinlan and Martin, 1970;Millar personal communication, 1976). Attempts were made to introduce such a diet in case 2 but the patient could not tolerate the limitations imposed, and was unable to follow it for any length of time.…”

Section: Discussionmentioning

confidence: 90%

Clinicopathological study of Refsum's disease with particular reference to fatal complications.

Allen¹,

Swallow²,

Nevin³

et al. 1978

Journal of Neurology, Neurosurgery & Psychiatry

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“…Dysplasia of the epiphyses of long bones usually develops symmetrically and bilaterally. In addition, these types of changes occur mainly in the bones forming the large joints of the limbs, such as the knee, shoulder, or elbow 2,5,[9][10][11]22 . Dysplasia of the distal part of the humerus was described in 50% of RD patients as attening of the lateral part of the trochlea 9 .…”

Section: Discussionmentioning

confidence: 99%

Osteoarticular changes in Refsum’s disease: a case report

Bednarek

Belka

Grudniewska

et al. 2023

Preprint

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Background Refsum’s Disease (RD) is a rare and complex disease of lipid metabolism with the domination of neurological symptoms and impacting the metabolism of phytanic acid. The metabolic block, inherited in an autosomal recessive manner, affects the growth and functioning of the myelin sheath around nerve cells. Approximately 35% of RD patients have changes in their osteoarticular system. The most common anomalies are shortening and deformity of many tubular bones in the hands and feet. Over time, chronic, progressive, symmetrical, and mixed motor-sensory polyneuropathy develops, initially involving the lower limbs, and later, the upper limbs. It leads to muscle weakness and walking disorders. Prevalence rates are not known but RD may be under-diagnosed. Case presentation We report an interesting case of a 49-year-old woman with symmetrical bone anomaly in the feet and hands, diagnosed with RD. Though she had the changes typical of RD since childhood, she was not diagnosed until her 40s, once serious complications of RD appeared. Conclusions Early diagnosis of RD is essential for implementation of effective treatment to significantly improve quality of life of the patient. We should always consider running expanded diagnostics, including genetic tests, with patients presenting with bone changes typical for RD. The interdisciplinary approach from different specialists is the key to reduce symptoms and complications. The factors influencing the development of bone, joint, and muscle anomalies in RD are still unknown.

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Refsum's syndrome: report of three cases

Abstract: SUMMARY The case reports of three cases of Refsum's syndrome are presented, and the underlying metabolic abnormality discussed. The effect of treatment with a low-phytanic acid diet in one case is described.

Cited by 11 publications

References 22 publications

Heredopathia atactica polyneuritiformis: Refsum's disease

Heredopathia atactica polyneuritiformis: Refsum's disease

Clinicopathological study of Refsum's disease with particular reference to fatal complications.

Osteoarticular changes in Refsum’s disease: a case report

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