Heredopathia atactica polyneuritiformis: Refsum's disease

Abstract

– 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.

The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease

“…In these patients, PA rose acutely with a doubling time of 14 h 8. The clinical reports of side effects in this audit confirms the importance of the avoidance of weight loss and of appropriate in-patient management (including nutritional supplementation), as 53% of acute clinical exacerbations were attributed to sudden weight loss 30. Compliance with the ARD diet has been an issue but has become easier as the diet has been simplified.…”

“…The importance of avoiding substantial weight loss or extended periods of fasting had been suspected clinically for many years 30 31. The kinetics of this response became clear when five patients fasted as part of a study of omega oxidation.…”

EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood

“…Early treatment with 150 mg of α‐tocopherol per kilogram and vitamin A can reduce symptoms like retinopathy and neuropathy (Class IV) . Also, a diet with reduced fat intake should be installed . Refsum disease: Patients with Refsum disease need a lifelong dietary restriction of phytanic acid combined with a high‐calorie diet . Plasmapheresis or lipid apheresis can reduce the plasma concentration of phytanic acid by 50%–70% and relieve symptoms like neuropathy and ataxia (Class IV) . Recessive ataxia with coenzyme Q deficiency (ADCK3/SCAR9): In these patients, muscle biopsy shows decreased levels of ubiquinone.…”

“…Also, a diet with reduced fat intake should be installed [72]. Refsum disease: Patients with Refsum disease need a lifelong dietary restriction of phytanic acid combined with a high-calorie diet [73]. Plasmapheresis or lipid apheresis can reduce the plasma concentration of phytanic acid by 50%-70% and relieve symptoms like neuropathy and ataxia (Class IV) [74].…”

Decompensation of Refsum Disease Caused by Ibuprofen Intake

“…5 Refsum disease is characterized clinically by atypical retinitis pigmentosa, peripheral polyneuropathy, cerebellar ataxia, anosmia, cardiomyopathy, conduction abnormalities, icthyosis, hyperkeratosis plantaris and palmaris, and epiphyseal dysplasia leading to characteristic shortening of the fourth toe, hammer toe, pes cavus, and osteochondritis. [4][5][6] The characteristic findings are slow conduction velocities on nerve conduction studies, elevated cerebrospinal fluid protein concentration (100 to 600 mg/dl) without an increase in cells, grossly abnormal electroretinogram, onion bulb formation and targetoid inclusions in Schwann cells on nerve biopsy, and plasma levels of phytanic acid of > 800 mmol. [4][5][6][7] Treatment consists of strict reduction in dietary phytanic acid intake to 10-20mg/day (daily average: 50-100mg).…”