I am a resident in child health. We had a patient with type 1 diabetes mellitus. He was short with lipodystrophy and brachydactyly. He also has hepatomegaly, frontal bossing, and dilated veins over his abdomen. On admission, his sugar was 707 mg/dl [39.3 mmol/L], ABG (arterial blood gases) normal, and no ketonuria. We started him on insulin and now his blood sugars are around 200 mg/dl [11.1 mmol/L]. We do not understand why he doesn’t have ketonuria. His C-Peptide level is very low. How can we explain this?

His liver function test is normal. An x-ray showed osteoporosis and delayed bone age. Can we call this case as Mauriac syndrome (fundus-normal) or is there any other syndrome with short stature, IDDM, and lipodystrophy with bony anomalies (brachydactyly and osteoporosis)? I searched the literature but couldn’t find one.

I assume that you are talking about a newly diagnosed child with diabetes. Not everyone with new diagnosis has ketonuria and, in India, he may have non-typical type 1 diabetes and eventually not need insulin once his glucose toxicity is controlled. If he is C-Peptide negative, then he is severely insulin deficient, but this also may change over the coming weeks. I also would suspect that his hepatomegaly may or may not be related to his hyperglycemia, but you will also know this over the coming weeks as his glucose levels are controlled. His osteoporosis and brachydactyly are probably totally unrelated. Now, if he is not newly diagnosed, then this is a different story and could be Mauriac (chronic hyperglycemia, hepatomegaly, short stature, delayed puberty, cataracts, retinopathy, etc.). Brachydactyly would not be part of this syndrome either. Limited joint mobility is different and is taut skin from glycosylation of skin/tissue glycogen.

SB