17q12 microdeletion syndrome

Abstract

An infant girl presented with multiple blisters followed by peeling of the skin over the entire body for 5 days with a prodrome of fever and cough. The child had dysmorphic facies, growth faltering and developmental delay. The ultrasonogram of the abdomen showed multiple small cysts in both kidneys with increased echogenicity and loss of corticomedullary differentiation. The whole exome sequencing revealed a 1.4 mb deletion on the long arm of chromosome 17, which also involves HNF1B gene. Diabetes workup showed an HbA1c of 5.9% with normal fasting glucose levels suggestive of a possible pre-diabetes. The renal functions were deranged with an estimated GFR of 22 mL/min/1.73 m² Keeping a possibility of staphylococcal scalded skin syndrome (SSSS), the child was treated successfully with appropriate antibiotics. This case depicts atypical presentation of 17q12 deletion syndrome with a very early onset chronic kidney disease, pre-diabetes and SSSS.

Keywords: Congenital disorders; Paediatrics.