Combination of type 1 diabetes mellitus with CHARGE syndrome: their mutual influence, diagnostic difficulties

CHARGE syndrome is a rare hereditary disorder (estimated by various authors to have an incidence of 1:10,000 to 1:15,000 newborns) caused by the presence of pathogenic variants of the CHD7 gene. The acronym «CHARGE» stands for coloboma, heart disease, atresia of the choanae, retarded growth and development, genital hypoplasia, and ear anomalies. Lenz syndrome (LS) is a rare genetic disorder (with an incidence of 1:10,000 in the population) most often caused by mutations in the NAA10 gene, which shares a number of phenotypic features with the syndrome described. LS clinically presents with microphthalmia/anophthalmia associated with multiple multisystem malformations. We present a unique clinical case of type 1 diabetes mellitus (T1DM) combined with CHARGE syndrome. This article discusses the challenges of differential diagnosis between CHARGE and Lenz syndromes in a child with additional T1DM with extremely low insulin requirements and severe cachexia associated with nutritional deficiency.

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