Disseminated form of Erdheim Chester's disease. Clinical case
DOI:
https://doi.org/10.15574/SP.2021.114.67Keywords:
Erdheim–Chester disease, histiocytosis, children, histological examinationAbstract
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.
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