УДК 616.411-007.61+616-008.9-053.2

Tyrosinemia is a rare metabolic disease resulting from a metabolic disorder of amino acids, which can occur under the «masks» of various diseases, debut as a hemorrhagic syndrome in children of all age groups, hepatolienal syndrome, hypoglycemia, rickets-like disease, peripheral neuropathy. Clinical case. In our publication, we report on a girl at the age of 1 year 7 months who had recurrent nosebleeds, which led to a referral to a hematologist. Examination revealed hepatomegaly with impaired liver function (hypoproteinemia, long-term resistant hypoglycemia, coagulopathy) with the development of chronic liver failure, ascites and splenomegaly with signs of hypersplenism, ascites, and nephromegaly. Differential diagnostics was carried out between oncohematological process, myelodysplastic syndrome (MDS) and metabolic disease. Type 1 tyrosinemia (hereditary infantile tyrosinemia (HT-1)) was verified by a combination of clinical and biochemical, molecular genetic studies. Verification of the disease came from the spectrometry of amino acids, acylcarnitines, succinal acetates and molecular genetic studies. Molecular genetic studies in the INVITAE laboratory, USA revealed two pathogenic variants identified in the FAH gene c.1069G>T (p.Glu357*) and c.554-1G>T, which are associated with autosomal recessive tyrosinemia. The emphasis in the publication is on the differential diagnosis, the effectiveness of the treatment of this orphan disease. The method of pathogenetic therapy of HT-1 is described in detail, both with the use of the drug nitisinone (orphadin) registered in Ukraine, a special diet with a low content of phenylalanine / tyrosine, which have a pronounced positive clinical effect and prevent the formation of irreversible disabling disorders. We emphasize the need for early diagnosis of HT-1 and support the Ministry of Health of Ukraine in the initiative of routine neonatal screening for orphan diseases, which include HT-1, since timely treatment improves the quality of life in these patients. The research was carried out in accordance with the principles of the Helsinki declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors. Key words: hepatosplenomegaly, nephromegaly, tyrosinemia type 1, children.

УДК 616.379-006.443:616.988.23 + 61.921.5-08-053.2

Langerhans cell histiocytosis (LCH) is an abnormal clonal proliferation of Langerhans cells. The prognosis varies depending on the form of the disease and organ damage. Any organs and systems can be involved in the pathological process in various combinations. A poor response to standard therapy and an unfavorable prognosis are characteristic of patients with a multisystem form of LCH and involvement of organs at risk. Skin lesions are a classic sign of LCH. Purpose - to describe the complexity and duration of diagnosis of LCH with multisystem damage in a boy aged 2 years and 2 months, infected with poliomyelitis and coronavirus. Clinical case. The first clinical manifestations of LCH in the child debuted with an eczematous-seborrheic rash on the scalp with spread to the limbs and trunk. The child was treated for toxicoderma, hemorrhagic vasculitis at the place of residence for 6 months. The boy lost 1.5 kg of body weight in 1 month. At the time of hospitalization, seborrheic-eczematous rashes on the skin with a hemorrhagic component, trophic-inflammatory changes in the nails of the hands, signs of protein-energy deficiency, stomatitis, gingivitis, hepatosplenomegaly, polyserositis, diabetes insipidus, osteolytic foci of the frontal bones were found. Results of the tests: anemia, thrombocytopenia, hypoproteinemia and hypoalbuminemia, coagulation disorders. The patient had the onset of lower flaccid paraparesis, muscle hypotonia. The boy was diagnosed with a number of infectious complications, including poliomyelitis (a derivative of vaccine poliovirus type 2), COVID-19. The child received LCH-III cytostatic therapy with a positive effect. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.

The role of iodine as an anticarcinogenic agent is just beginning to be widely appreciated.
METHODS The aim of our study is to identify a link between iodine deficiency and the development of hematological malignancies in children. We screened iodine status in 36 children with oncohematological diseases and 32 healthy. Children were tested for iodine in the urine, ultrasound of thyroid glands were done.

UDC 616+616-053.2+616.151.5

Hemophilia A is an X-linked recessive disorder caused by a deficiency of plasma coagulation FVIII, which may be inherited or arise from a spontaneous mutation. FVIII deficiency leads to a decrease in normal hemostasis and is manifested by spontaneous or induced bleeding. As a result of hemorrhages in the central nervous system, neurological complications are possible. In such cases, doctors should be on the alert so as not to miss another accompanying pathology. Neurodegenerative disease with iron accumulation in the brain is a genetically and clinically heterogeneous group of hereditary progressive disorders of the central nervous system with pronounced iron accumulation in the basal ganglia, which have a specific picture on magnetic resonance imaging of the brain in combination with characteristic clinical signs. The aim is to describe a clinical case of a combination of two complex hereditary diseases in a 10-year-old boy, hemophilia A of moderate severity, complicated by an inhibitor, and a progressive neurodegenerative disease with accumulation of iron in the brain, with associated neurodegeneration associated with the protein of the mitochondrial membrane. The publication reports for the first time a clinical case of a combination of two complex hereditary diseases in a 10-year-old boy, confirmed by molecular genetic studies: hemophilia A of moderate severity, complicated by an inhibitor with the detection of a large deletion of exons 23-26 in the gene, and progressive neurodegeneration with brain iron accumulation, with the presence of a pathogenic mutation of the C19orf12 gene, variant c.204_214del (p.Gly69Argfs*10) in a homozygous state, autosomal recessive type of inheritance, Mitochondrial-membrane Protein-Associated Neurodegeneration. Coagulopathy is controlled by prophylactic administration of emicizumab subcutaneously. Neurodegeneration with brain iron accumulation in the child was manifested by: Friedreich's foot, equinus feet, positive Babinski symptom, high tendon reflexes, optic nerve atrophy; partial dysplasia of both eyes; with myopia of both eyes, impaired accommodation, progressively increasing paresthesias in both legs, impaired gait, ataxic gait, coordination difficulties, muscle atrophy of both legs, visual impairment, rapid fatigue with preserved intelligence and mental development. Magnetic resonance imaging of the brain showed a moderate bilateral symmetrical lesion of the globus pallidus. Our report confirms that the use of molecular genetic studies plays an important decisive role in the verification of the disease, often determining its type and possible complications. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.

УДК616.155.194-053.2+616-096.7/.001.891.5

Еритропоетична протопорфірія (ЕПП) є рідкісним спадковим захворюванням, зареєстрованим в усьому світі, проте існують регіональні відмінності у його епідеміології. Хвороба спричиняється частковим дефіцитом ферохелатази, яка є останнім ферментом шляху біосинтезу гему. При типовій ЕПП світлочутливість з'являється вже після першого перебування в ранньому дитинстві на сонці. У 20-60% пацієнтів з ЕПП спостерігається мікроцитарна анемія, яку помилково первинно діагностують як залізодефіцитну анемію, a тому призначають залізовмісні ліки.