title: Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene.
abstract: We describe a case of neonatal diabetes due to a homozygous mutation (c.3 G>T) at the INS gene, leading to lack of insulin expression and severe hyperglycemia from day one of life requiring permanent insulin replacement therapy. The genetic loss of endogenous insulin production likely led to lack of immune tolerance to insulin, with resultant autoantibody production against exogenous insulin and progressive immune-mediated lipoatrophy at injection sites.
authors.affiliation: Department of Pediatrics, Assaf Harofeh Medical Center, Zerifin (affiliated to Sackler Faculty of Medicine, Tel Aviv University), Israel. rmarianna@gmail.com
authors.forename: Marianna
authors.initials: M
authors.lastname: Rachmiel
authors.forename: Oscar
authors.initials: O
authors.lastname: Rubio-Cabezas
authors.forename: Sian
authors.initials: S
authors.lastname: Ellard
authors.forename: Andrew T
authors.initials: AT
authors.lastname: Hattersley
authors.forename: Kusiel
authors.initials: K
authors.lastname: Perlman
mesh_terms: D000367:Age Factors; D003241:Consanguinity; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000235:genetics*; D003923:Diabetes Mellitus, Lipoatrophic / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D042241:Early Diagnosis; D005808:Genes, Recessive / Q000502:physiology; D006801:Humans; D007231:Infant, Newborn; D007328:Insulin / Q000235:genetics*; D009154:Mutation / Q000502:physiology; D010375:Pedigree; D012720:Severity of Illness Index
chemical_list: D007328:Insulin