CLINICAL CASE OF PROTEUS SYNDROME IN INFANT

Abstract

Congenital diseases - one of the most complicated problem in modern pediatric. According to the European Commission Expert Group on Rare Diseases (EUCERD) data, in a world there are more than 8 thousands of rare diseases and more than 5 thousands — congenital metabolic diseases. In 2002 by National Human Genome Research Institute (NHGRI) and National organization for Rare Diseases (NORD) created Genetic and Rare Diseases Information Center (GARD), that regularly updates and provide public and evidence-based information concerning genetic and rare diseases of humans.Proteus syndrome – disease, reason of it is lethal dominant somatic mutation that occurs in afterzygote period of the embryonic development. Proteus syndrome characterized by complex variable and progressive excrescence of different tissues with predominance of asymmetric macrodactylia, connective tissue and epidermal nevus, congenital defects of blod and lymph vessels development, cranial bones hyperostosis. Pathology followed by severe body deformation that lead to the lethal complications in young age.The aim of the clinical study – is to pay attention of the medical professionals at the disease that rare met and present clinical features of the Proteus syndrome. In the article we presented clinical case of Proteus syndrome in a girl of 1 year 5 months of age. Objective examination: height 92 cm, weight – 12 kg. The head is enlarged due to ventriculomegaly. Burophthalm of the right eye. Rough facial features – hyperplasia of the nose tissues. Abnormality of the teeth and enamel. In a lumbar region and lower extremities diffused nevus in a light brown color with a hyperplasia of tissues. Deformation of the right and left hands: macrodactyliya of the II and III fingers with hyperplasia of the soft tissues. Left leg is larger than right and turned out. Clinical diagnose: multiple congenital growth defects - Proteus syndrome (sporadic inheritance). Congenital corrected glaucoma of the right eye. Congenital cataract of the left eye.Agenesia of the corpus callosum.Ventriculomegaly.Polymicrogiriya. S – typethoraco-lumbar deformation of the spine III degree. Congenital defect of the hand.Dysplasia of the hip joints.Congenital subluxation of the right hip.Multicystic disease of the left kidney.Hypoplasia of the right kidney.Retardation of psychomotor and physical development. Retardation of intellectual development, socially not adapted. Secondary pyelonephritis, active period, without kidney failure. Lobar acquired community pneumonia. Iron deficient anemia II.Conclusion. Proteus syndrome – is a rare syndrome with complicated genetic identification. In this clinical case diagnose of the Proteus syndrome was done according to presence of clinical signs with classical variant of the disease.