For the first time in Ukraine, the article describes the clinical case, features of diagnostic examinations and the difficulty of the verification of Erdheim—Chester disease (ECD) of a 13-year-old girl. The disease debuted with arthritis of the right knee and right ankle joints. Subsequently, there was weakness in the legs, limping, it was difficult for the child to climb the stairs. Magnetic resonance imaging (MRI) of the brain in the supra-, intratentorial and intracerebral areas revealed numerous focal lesions of the cortex, the white medulla of both hemispheres of the brain and the left hemisphere of the cerebellum. 8 months after the initial complaints, she was diagnosed with lower flaccid paraparesis, mixed paresis of the right hand, atactic syndrome, she could not stand on her toes. Based on the results of computer tomography (CT), a widespread focal lesion of the bones, the central nervous system (including the brain, membranes of the spinal cord, cranial nerves, roots and spinal nerves), lungs, liver, pancreas, kidneys, abdominal lymph nodes, peritoneum, uterus, vagina, mammary glands. Scintigraphic signs of diffuse lesions of the bones of the skull, spine, pelvis, tubular bones of the extremities. After 9 month after the appearance of primary complaints the ECD diagnosis was confirmed using histological, immunohistochemical and molecular genetic studies. Histiocytic cells were positive for antigens CD68 and CD14, and negative for CD1a, CD207, S-100 and BRAFV600E. Our observation shows that this pathology can occur in childhood of a female person. The rarity of this disease and the variety of clinical and pathological features are a problem for clinicians and pathologists. Diagnosis of the disease is difficult and long even with the involvement of a wide range of specialists and various examination methods (ultrasound, radiography (RTG), MRI, CT. We hope that familiarity with the wide range of pathological changes in ECD described in this message, will help practicing clinicians and pathologists diagnose disease in the early stages and effectively provide professional medical care to such 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 interest was declared by the authors. Key words: Erdheim–Chester disease, histiocytosis, children, histological examination.
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.
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.
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