Refsum Syndrome - Causes and Signs of Refsum Syndrome
The following forms of this syndrome are distinguished:
- adult form of the disease – diagnosed in adolescence;
- infantile form of the disease – diagnosed in the period up to 10.
According to another classification, this disease can be diagnosed at different periods of a person’s life. The following forms are distinguished:
The following forms of this syndrome are distinguished:
- adult form of the disease – diagnosed in adolescence;
- infantile form of the disease – diagnosed before 10.
According to another classification, this disease can be diagnosed at different periods of a person’s life. The following forms are distinguished:
- childhood form - a disease that is diagnosed between the ages of three and ten;
- adolescent form - the disease is detected during puberty in adolescents;
- adult form - the disease is detected in adults, often after 40 years.
Causes
The main cause of Refsum syndrome is a defect in a certain lipid metabolism enzyme, which leads to the accumulation of phytanic acid in tissues. The concentration of this acid increases in the cells of the peripheral and central nervous systems. It also accumulates in the tissues of internal organs (heart, kidneys, liver and other organs).
But mainly the lesion affects the nervous system. After a certain time, the concentration of phytanic acid in myelin reaches half of the total volume of fatty acids in it. This leads to activation of lipid peroxidation and, as a consequence, destruction of the myelin sheath.
The reasons that lead to the development of this syndrome:
- heredity (autosomal recessive inheritance is characteristic);
- a block in the oxidation pathway of phytanic acid;
- mutation in the RANEPA gene, locus 10 pter-pll.2;
- if the patient's parents are closely related (incest).
Symptoms
The manifestation of the main symptoms of this disease begins after 20 years. However, they can also appear in childhood. All forms of the disease are characterized by a fairly slow progressive course.
Symptoms that appear in this syndrome and are characteristic of all forms:
- cerebral degenerative disorders develop;
- pigmentary retinitis (eye lesions);
- dry skin;
- skin peeling;
- ichthyosis (skin changes);
- skin changes such as vulgar ichthyosis are possible;
- hyperkeratosis;
- acanthosis;
- granulosis;
- progressive polyneuropathy;
- paresis;
- paralysis of the distal parts limbs;
- impaired skin sensitivity;
- nystagmus;
- mental retardation;
- cerebral ataxia;
- sinus tachycardia;
- neurogenic deafness;
- conduction disorder;
- various bone anomalies (dysplasia of the limb bones, kyphoscoliosis).
Symptoms that are characteristic of the adult form of this disease:
- gait disorder;
- polyneuropathy;
- cerebellar ataxia;
- pigmentary degeneration retina;
- cataract;
- night blindness;
- sensorineural hearing loss;
- decreased sense of smell;
- cardiomyopathy;
- ichthyosis;
- intracardiac conduction disorder;
- cerebellar ataxia;
- sinus tachycardia;
- decreased intelligence;
- retinal dystrophy;
- loss of smell.
Most people with this form of the disease may have the following diseases:
- hollow foot;
- scoliosis.
Course this form of the disease is slowly progressive. Characterized by a gradual increase in ataxia and hyporeflexia.
Symptoms that are characteristic of the infantile form of this syndrome:
- flat face;
- flat nose;
- low-set ears;
- retinitis pigmentosa;
- low muscle tone;
- psychomotor retardation (severe);
- convulsions;
- sensorineural hearing loss.
This form of the syndrome causes degenerative changes in the spinal cord (in the cells of its anterior horns), peripheral nerves and retina.
Diagnostics
If symptoms of this disease occur, you should make an appointment with a therapist. A consultation with a neurologist is also necessary. If signs of eye damage appear, you should contact an ophthalmologist, and if skin damage occurs, a dermatologist. The main confirmation of the presence of this syndrome is the determination of a high concentration of phytanic acid in the blood.
Tests that can diagnose this syndrome:
- general urine analysis;
- blood test for phytanic acid content;
- ophthalmoscopy;
- audiometry;
- electromyography;
- skin biopsy;
- cerebrospinal fluid biopsy.
This syndrome must be distinguished from hypertrophic neuritis of Dejerine-Sottas, which has similar symptoms, as well as from Roussy-Levy syndrome, Charcot-Marie-Tooth neural amyotrophy.
Treatment
To treat this syndrome prescribe:
- diet (limited consumption of green fruits and vegetables, dairy products);
- plasmapheresis;
- vitamin therapy (prescribe vitamins of group A, B);
- salt baths;
- cratolytic ointments;
- massage;
- anticholinesterase drugs (galantamine, proserin);
- therapeutic exercises.
Prevention
Preventive measures to prevent this disease have not been developed.
Схожі новини:




