Mauriac syndrome is one of the complications of insulin–dependent diabetes mellitus that develops in children. It is manifested by a delay in physical and sexual development, obesity, osteoporosis, hepatomegaly. Diagnosis of the syndrome is based on a detailed medical history, external examination of the child, laboratory blood tests (unstable glucose levels, dyslipidemia), ultrasound and radiography data. The basis of effective treatment is to achieve compensation for diabetes mellitus. Hormonal agents, hepatoprotectors, drugs for normalization of lipid metabolism are used to correct symptoms and eliminate developmental delays.
Meaning
Mauriac syndrome (secondary diabetic glycogenosis) is named after the French physician Pierre Mauriac, who first described its symptoms in 1930. The disease is diagnosed in adolescence (15-16 years) in patients with type 1 diabetes with signs of delayed puberty and physical development. Due to the existence of new insulin preparations and methods of its administration, teaching patients self-control in diabetes schools, currently Moriac syndrome is diagnosed in children much less often.
Causes
Mauriac syndrome develops in children with early onset and decompensated course of type 1 diabetes mellitus (insulin-dependent). There is a correlation between the manifestation of the syndrome and the incorrect treatment of diabetes. Causes that can cause secondary diabetic glycogenosis:
- incorrectly selected insulin dosages;
- the use of drugs of poor quality or low degree of purification;
- lack of sufficient self-control: skipping injections, rare blood sugar measurements;
- poor knowledge of the skills of injecting insulin, which causes the low effectiveness of the drug and a high probability of complications;
- non-compliance with the diet, ignorance of the rules for counting bread units.
Pathogenesis
The starting point in the development of Mauriac syndrome is a permanent lack of insulin. All types of metabolism are disrupted, primarily carbohydrate. Persistent hyperglycemia is registered in the blood, while glucose cannot enter the cell. To make up for the glucose deficiency in the cells, the breakdown of glycogen increases, the number of intermediate products of fat metabolism increases in the blood.
The synthesis of cholesterol and lipoprotein fractions increases, their accumulation causes fatty liver dystrophy and an increase in its size. A chronic lack of insulin contributes to an increase in the production of counterinsular hormones. The adrenal glands intensively produce glucocorticosteroids, which trigger gluconeogenesis – the synthesis of glucose from non-carbohydrate precursors.
As a result of inhibition of the pituitary gland and adrenal dysfunction, the child’s growth and puberty are disrupted. The catabolic effect of cortisol is manifested by the breakdown of proteins in tissues. Calcium and phosphorus are removed from the bones, followed by the development of osteoporosis and atrophy of muscle fibers.
Symptoms
The clinical picture of Moriac syndrome is characterized by a complex of external signs. Growth retardation is recorded in children: compared to the norm, the lag can reach 25 cm. The formation of bone tissue occurs belatedly. The bone structure becomes brittle, osteoporosis develops. Children suffer from cataract and retinal diseases more often than their peers.
Kushingoid obesity is another sign of diabetic glycogenosis associated with hyperproduction of adrenal hormones. Fat is deposited mainly in the face and neck area (moon-shaped face), the upper part of the trunk. Limbs remain thin: this is especially noticeable when changing the size of subcutaneous fat in the chest and abdomen.
Increased hair growth begins on the child’s body, striae (stretch marks) appear. A number of patients have folliculitis of the skin in the area of the shoulders and hips, which is accompanied by itching. A typical manifestation of Mauriac syndrome is hepatomegaly: in severe cases, the lower edge of the liver reaches the navel. The function of the organ usually does not deteriorate.
Violation of the process of puberty of a child is expressed in the form of sexual infantilism. It is characterized by the absence or underdevelopment of secondary sexual characteristics that appear under the influence of sex hormones. Puberty comes later, girls suffer from menstrual function.
Complications
Mauriac syndrome itself is considered as a complication of type I diabetes. Excessive deposition of subcutaneous fat aggravates hormonal disorders, together with hypercholesterolemia contributes to the appearance of heart and vascular diseases already in childhood. Children with brittle bones due to osteoporosis are more likely to get fractures even with minor injuries.
With the late diagnosis of Mauriac syndrome or its ineffective treatment, liver functions are disrupted, fatty infiltration and fibrous changes of the organ are formed. Accumulation of metabolic products can cause acidosis, in more severe cases, ketoacidotic coma occurs up to a fatal outcome.
Diagnostics
Diagnosis of the syndrome does not cause difficulties, it is carried out by a pediatric endocrinologist or pediatrician on the basis of anamnestic data and specific external manifestations. During the examination, attention is drawn to the low growth of the child, obesity, excessive hair loss, underdevelopment of sexual characteristics. Palpation of the abdomen determines an enlarged liver. To confirm the diagnosis , the following is done:
- Blood test. In the absence of proper control over diabetes in a child, blood sugar spikes are recorded during the day. Violation of lipid metabolism is expressed in hyperlipidemia, hypercholesterolemia.
- Densitometry. The X-ray method is used for early detection of osteoporosis. In patients with Moriac syndrome, a decrease in bone mineral density and an increased risk of fractures are determined.
- Ultrasound of the liver. During ultrasound examination, an increase in the size of the liver, signs of fatty hepatosis are determined. Fibroelastometry helps to assess the severity of fibrous changes.
- Determination of bone age. Radiography of the bones of the hand and wrist is performed to determine the nuclei of ossification. Bone age is considered a reliable criterion for assessing biological age and physical development. In Moriac syndrome, the calendar age is ahead of the biological age.
- Liver biopsy. An invasive examination method is not prescribed to all patients. During the study of the biopsy material, the glycogenic and fat load is determined, differential diagnosis of Mauriac syndrome with Gierke’s disease is carried out.
Treatment
To correct the manifestations of the syndrome, first of all, it is necessary to eliminate the cause of its occurrence. The main goal of therapy is to achieve stable compensation for the underlying disease by prescribing adequate doses of insulin in accordance with the needs of the body.
Insulin therapy
Basic bolus therapy is used: it maximally mimics the natural secretion of the hormone by the islets of Langerhans of the pancreas. Long–acting insulin replaces its basal secretion, and short-acting insulin is a food component: it is administered after a meal.
Prolonged medications provide a stable level of insulin, prevent sharp fluctuations in glucose during the day, which reduces the risk of cardiovascular diseases and polyneuropathy. The calculation of the dose of short- and ultra-short-acting insulin is based on the number of bread units eaten. Highly purified preparations are used, the quality of which is beyond doubt among specialists.
Additional pharmacotherapy
In the drug therapy of Mauriac syndrome, hypolipidemic agents are used to normalize the level of cholesterol and other blood lipids, hepatoprotectors to restore the structure of liver cells and their functions. B vitamins improve trophism in nerve tissues, steroid hormones are prescribed to accelerate the growth and maturation of the child. Sex hormones are included in the therapy of Mauriac syndrome no earlier than 14-15 years.
Physical therapy
The treatment regimen is supplemented with massage and physiotherapy methods to restore the metabolic processes in adipose tissue. Inductothermy is used to combat fatty degeneration of the liver. The liver is exposed to a high-frequency alternating magnetic field to increase the speed of blood flow and metabolism.
Prognosis and prevention
With adequate treatment of diabetes mellitus and maintenance of sugar within the normal range, the prognosis of Moriac syndrome is favorable. Diabetes compensation is characterized by normal glucose levels without sudden jumps: disease control allows patients to avoid many complications or delay them for a long time. All preventive measures are reduced to monitoring blood glucose levels and competent diabetes therapy in children.
