Floppy baby with skin abnormality – a case report of 6 years old boy with diagnosis of congenital muscular dystrophy type Ullrich

Authors presented case report of 6 years old boy with congenital generalised hypotonic syndrome accompanied by feeding problems and delayed motor milestones. Except the hypotonic syndrome boy expressed distal laxity, keratosis pilaris, and later mild contractures of knee flexors. Another sign of the disease were congenital hip dislocation. Mental development was normal. Blood level of creatinkinase was mildly elevated (5.8 μkat/L). Due to the phenotype and the pattern in muscle MRI images of lower limbs genetic testing of COL6 gene was indicated and revealed causal in literature already described de-novo mutation in COL6A3 gene C6210 + 1G > A. Clarifying of the diagnosis enabled prediction of prognosis, possible risk and genetic counselling. It is probably the first case report of genetically proven congenital muscular dystrophy type Ullrich in the Czech Republic. (author)