Pediatr. praxi. 2014;15(3):161-163

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

MUDr.Jana Haberlová, Ph.D.^1,2, MUDr.Zuzana Libá, Ph.D.², MUDr.Martin Kynčl³, prof.MUDr.Pavel Seeman²

¹ MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle upon Tyne, UK

² Klinika dětské neurologie 2. LF UK a FN Motol, Praha

³ Klinika zobrazovacích metod FN Motol, Praha

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 kreatinkinase

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.

Keywords: floppy baby, distal laxity, keratosis pilaris, colagen VI, congenital muscular dystrophy type Ullrich

Published: June 1, 2014  Show citation