Fibrodysplasia ossificans progressive (FOP) is an ultra-rare genetic disorder that is caused by a mutation in the ACVR1 gene and provokes severe heterotopic ossification. Since flares of the disease ...are associated with inflammation, it is assumed that JAK inhibitors can control active FOP due to blocking multiple signaling pathways. Keywords: Fibrodysplasia ossificans progressiva, FOP, Heterotopic ossification, Tofacitinib, Autoinflammation, Spondyloarthritis-like disease, ACVR1 gene, Bone morphogenetic protein, BMP
Background.
Congenital syphilis is a severe intrauterine infection which, affecting most of the organs and systems of a child, can lead to his disability. However, it is extremely difficult to ...suspect congenital syphilis in a child in the absence of information about prior syphilis in his mother. The article presents a case of a monosymptomatic clinical picture of early congenital syphilis.
Description of the Clinical Case
. At the age of 1 month, the child had hyperemia, isolated edema of the right forearm, and restriction of limb movements. He was examined by a pediatrician who suspected a fracture of the forearm bones. X-ray did not show any fracture. The situation was regarded as an allergic reaction; desensitizing therapy was prescribed during which the range of movements in the right arm slightly increased. At the age of 2 months, there was a decrease in the range of movements in the left arm. On admission, the condition was regarded as moderate one. No fever; no signs of intoxication. Skin and visible mucous membranes were not changed. Cardiopulmonary activity was satisfactory. The abdomen was palpable in all compartments, painless. The liver was enlarged 6 cm, of dense consistency. The spleen was enlarged 5 cm. Bowel and bladder functions were normal. Neurological status: the reaction to examination was adequate, emotional cry. Cranial nerves without pathology. Can see and hear. Restricted range of movements in the arms; passive movements were painful. Muscle tone in the arms was low, in the legs — closer to physiological one. Equal and brisk tendon reflexes from the arms and legs. Large fontanel 1.511.5 cm, not protruded. X-ray examination of the forearm bones showed a change in the structure of the epiphyses of both forearm bones that was common to syphilitic osteochondritis.
Conclusion
. The article describes the complexity of diagnosis of early congenital syphilis in a child aged 2 months in the absence of a corresponding anamnesis in his mother. The need to rule out syphilitic infection in infants with motor impairments, born from unexamined mothers, has been emphasized.
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