TN was seen in India aged 7 years by her GP, with concerns about tall stature and increase in belly fat. She had a family history of diabetes, high cholesterol and early deaths. Her mother has diabetes, a round face and prominent limb musculature with very little subcutaneous fat. TN was investigated by a paediatric endocrinologist in India. Tests showed high triglycerides and insulin levels at the upper level of normal for her age. She was put on a strict diet and exercise programme. TN and family then moved to UK. On examination TN was noted to have accumulation of fat around her face and neck with acanthosis of the neck, axillae and groin, (photographs available). Her abdomen was protuberant but there was no organomegaly. TN did not appear lipodystrophic but, given her family history, she had a OGTT and baseline blood tests. OGTT was normal with Insulin at the upper level of normal, raised triglycerides & Total/HDL ratio, raised ALT, LDH, ALP & low Vit D, Non alcoholic Fatty liver on Ultrasound. In the family history, TNs 10 maternal relatives spanning 5 generations are all reported to have had a round face and slender limbs, lipodystrophic body build, (Family tree available). 5 relatives had early cardiac deaths, 6 were confirmed diabetes, 4 had dyslipidaemia. Grandfather, and great grandmother were never investigated for diabetes or dyslipidaemia, but died early aged about 50 from cardiac arrest. TNs mother has well-defined musculature in the upper and lower limbs and accumulation of fat around face, neck and central adiposity, typical partial lipodystrophic build, (photographs available). She has hypothyroidism, diabetes, PCOS, elevated cholesterol and triglycerides. A diagnosis of autosomal dominant LMNA-related Familial Partial Lipodystrophy was suspected. Gene testing identified a pathogenic mutation in exon 8 of the LMNA gene, c.1444C>T, p.Arg482Trp, in TNs mother, confirming the diagnosis. Subsequent testing of TN showed that she had inherited the LMNA mutation from her mother. The diagnosis of a form of lipodystrophy had not been recognised in this family previously and will allow appropriate management in TN and the wider family. This case illustrates the importance of taking a detailed family history and doing appropriate genetic testing on an affected relative if a specific diagnosis is suspected. Trials of metroleptin have been done in paediatric cases with improvement. We wait to see if TN will be suitable in future.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology