Turner syndrome in childhood period – A case Report

Abstract

INTRODUCTION: Turner syndrome is a frequent chromosome disorder characterized by short stature, gonadal dysgenesis and multisystem diseases associated with high morbidity and reduced life expectancy
CASE: We reviewed an 18 month old patient who presented to the genetics unit at Rwanda Military Hospital (RMH), a tertiary healthcare facility, with a chief complaint of poor weight gain. She was born with a birth weight of 1.76kg and in the neonatal period, paediatricians had noticed dysmorphic features. At the first consultation at the RMH genetics unit, he weighed 5.2kg and was 64 cm tall. Physical examinations revealed some dysmorphic features, including hypertelorism, absent philtrum, short and webbed neck and large low set ears. Cytogenetic analysis showed the chromosomal formula of 45, X0.

CONCLUSION: ThepatientwasdiagnosedwithTurnersyndromebasedonthecytogeneticanalysis and managed with physiotherapy of stimulation and re-education that led to improvements.