Disease

Leah's syndrome (Leah's disease)

General information

Leia's syndrome is a rare neurometabolic syndrome that affects the central nervous system and causes impaired coordination of movements and thinking and death. The disease is hereditary in an autosomal recessive type or X-linked. Pathologies are most often affected by small children up to 2 years old - 1-2 children per tens of thousands, in more rare cases, adolescents and adults. ICD-10 code: G 31.8

The world became aware of this disease thanks to Denis Leu, who described it back in 1951. In academia, isolate the syndrome from similar encephalopathy succeeded in 1954. A link to mitochondrial activity was revealed in 1968, but the main advancement was the discovery mutations at cytochrome oxidasesin 1977

The problem is that effective drugs or methods for treating Lei's disease have not yet been developed, because there are many reasons for it, starting with the influence of mutations in the genes responsible for mitochondrial function, and ending with complications of degenerative diseases of the nervous system, abnormal formations of necrotic foci, or sprouting of vessels gliosisin the structures of the brain.

The only preventive method today is “giving birth to children from three parents,” that is, through the use of donor eggs and mitochondrial donation.

Pathogenesis

For mitochondrial diseases such as Leah's syndrome, multiple organ involvement involving nerve and muscle tissue is characteristic. Pathology is usually based on a failure in metabolic regulation. pyruvic acid, while there is a violation of metabolic reactions, a decrease in energy production and a slowdown in the processes of electron transfer in the cells of the respiratory system. Processes can sporadically intensify, aided by hereditary factors. To start the development of the syndrome, the presence in the body of more than 90% of the mutant mtDNA of the entire mtDNA is necessary. In the case of a lower content of mutant DNA, the symptomatology resembles neuropathyand boils down to ataxiaand retinitis pigmentosa.

The disease is characterized by early development and a rapid malignant course with the addition of a large number of various neurological disorders, then breathing and metabolism problems begin.

Classification

Depending on the pathogenesis and age-related features, various types of disorders are distinguished, expressed as:

  • insufficiency of cytochrome C-oxygen oxidoreductase;
  • necrotizing subacute infantile encephalopathy Leia;
  • Lei syndrome in adults;
  • NARP syndrome or mitochondrial DNA defect;
  • X-linked Leia syndrome;
  • failure enzyme - pyruvate carboxylase.

Depending on the course, Leah's syndrome happens:

  • acute form - in very rare cases and resembles acute encephalopathy;
  • chronic and subacute Leia disease.

Causes

The main provocative factor of Lei's syndrome is considered to be insufficiency. cytochrome oxidase and mutations of genes responsible for mitochondrial function:

  • replacement of T (thymine) on G (guanine) or C (cytosine) at the 8933th position of the 6th subunit ATP synthases;
  • mutations in the flavoprotein unit of the succinate dehydrogenase complex, in the SURF genes or in two nuclear genes (leads to the development of mitochondrial diseases of the second class), in total - about 40 are described.

However, neurometabolic encephalopathy may contribute to:

  • the formation of necrotic foci or oncostructures (malignant or benign) in the structures of the cerebellum or brain stem;
  • vascular sprouting or the development of gliosis;
  • hereditary predisposition and mutagenic factors of any nature - biological, environmental, chemical, etc .;
  • complication of degenerative diseases affecting the nervous system;
  • as well as the result vaccination.

Symptoms

Leia's syndrome and its progression leads to:

  • to the occurrence of nausea and vomiting;
  • to a rapid decrease in body weight and weakness;
  • to the development of a delay in psychomotor functions (for example, decreased attentiveness) and impaired consciousness;
  • to seizures tonic-clonic seizures either muscle dystonia/hypotension;
  • to occurrence respiratory anomalies;
  • to optic atrophy, maybe even blindness;
  • to hearing loss;
  • to increase fatigue and drowsiness;
  • as well as impaired coordination, tendon reflexes, acts of swallowing, tremor limbs.

Clinical characteristics of Leu syndrome with other forms of pathology

The clinical characteristics and pathogenesis are similar, but the symptoms can be supplemented:

  • metabolic compensatory acidosis or bouts of severe acidosis;
  • decreased levels of bicarbonates in the blood;
  • an increase in the volume of lactic, pyruvic acid in the blood and cerebrospinal fluid;
  • attacks myoclonus;
  • hypovintilationand development tahiapnoe;
  • ataxiaand clonic twitches;
  • spastic paresis;
  • epileptic seizures;
  • progressive dementia;
  • central cattle;
  • cardiomyopathy;
  • symptoms of extrapyramidal and pyramidal insufficiency.

Tests and diagnostics

Leia's disease refers to subacute or chronic necrotizing encephalomyopathies and is an important area of ​​study in pediatric neuralgia. For its diagnosis, consultation with a neurologist is necessary, as well as:

  • conducting a general blood test and its biochemical studies, revealing lactic acidosis(increased concentration pyruvate lactate in the bloodstream and cerebrospinal fluid), a decrease in the number carnitinecytochrome oxidase activity in culture cells - fibroblasts;
  • the study of brain structures through magnetic resonance imaging;
  • study of electrical activity (EEG) and morphological structures of the brain.

Treatment

A conservative medication for Leigh's disease is usually symptomatic and includes the use of:

  • antibiotics, eg, Ampicillin;
  • various methods dialysis;
  • nootropics;
  • anticonvulsants;
  • preparations containing IN 1 and biotin.

The doctors

Specialization: Neurologist / Geneticist / Reproductologist (IVF)

Gromenko Julia Yurievna

2 reviews1500 rub.

Bakaeva Natalya Alexandrovna

2 reviews900 rub.

Kuptsov Mikhail Alekseevich

1 review 1200 rubles more doctors

Medication

CavintonNootropilPhenibutCarbamazepineAmpicillin
  • Cavinton - antihypoxic, neuroprotective, antiplatelet, vasodilator, helping to improve cerebral circulation. The standard daily dose is 15-30 mg and should be divided into three doses.
  • Nootropil - tablets with a nootropic effect, allowing to improve concentration and cognitive functions. The maximum daily dose of 24 g, divided into 2-3 doses. Precautions should be taken to persons who have problems with the work of the kidneys.
  • Phenibut - Another nootropic that is produced in tablets and helps with various psychopathological and somatovegetative disorders, with dizzy, insomnia etc. For children it is enough to give half a tablet three times a day.
  • Carbamazepine - psychotropic antiepileptic drug. Tablets are dispensed only by prescription, so a doctor's prescription and an individual dose calculation are necessary.
  • Ampicillin- an antibacterial drug from the penicillin group, helps with various infections of the respiratory and urinary tract, gastrointestinal tract, meningitis, endocarditis, sepsis, whooping cough etc. For children, the daily dose is calculated on a body weight of 100 mg / kg and is prescribed in 4-6 doses.

Procedures and operations

As a result of neurodegenerative processes, patients may need mechanical ventilation, respiratory tract sanitation, gastrostomy, tracheostomy, pacemaker and so forth

The most effective method for preventing the occurrence of a child with Leah's syndrome is to give birth from a “three parents”, which implies zygote reconstruction by transferring the nuclei of the parents to the donor enucleated egg.

Diet for Leia's Syndrome

Diet for the nervous system

  • Efficiency: therapeutic effect after 2 months
  • Dates: constantly
  • Product Cost: 1700-1800 rubles a week

First of all, it involves controlling the amount of protein entering the body per day. It should not exceed 1-1.5 g per day. Of course, nutrition should be healthy and rational. If the acts of swallowing are violated, then patients can be recommended to eat artificial mixtures through a probe. At the same time, it is necessary to control and normalize the level of vitamin and fat metabolism, and prevent development obesity. Patients should avoid heavy physical exertion and fasting, which can increase the load on mitochondria.

Forecast

For a subacute and chronic course, a fatal outcome is characteristic for several years. If the disease develops rapidly, then death most often occurs as a result of paralysis of the respiratory center located in the medulla oblongata.

Lake family with children suffering from Leah's disease

An example is the Lake family (in the photo, parents with their daughter Jasmine - on the left and son Jade - on the right), who had four children with Lei syndrome, three of whom have already died at a young age. Their children were not able to learn to walk and talk on their own, suffered from attacks and mental retardation, the cause was the deadly gene from their mother Adele, so when planning a family it is extremely important to undergo DNA testing of parents and genetic counseling from qualified specialists. The main thing to remember is that Leigh's syndrome and other genetic diseases are much easier to prevent than to cure.

List of sources

  • Ginter E.K. Medical genetics. M .: medicine, 2003. -130 s.
  • Nikolaeva E.A., Yablonskaya M.I., Barsukova P.G. et al. Lei's disease due to mutation of the SURFI gene: diagnosis and approaches to therapeutic correction. Russian Bulletin of Perinatology and Pediatrics, 2006, No. 2, S. 27-31.

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