Telangiectasia, ataxia, hypermobility syndrome, hypertrophic cardiomyopathy and diabetes - a new syndrome?

The proportion of people with genetic syndromes accompanied by diabetes mellitus or impaired tolerance to carbohydrates is less than 1% among all patients with diabetes mellitus. Currently, more than 70 such syndromes are described, in the clinical manifestation of which impaired tolerance to carbohydrates or diabetes mellitus is important. Examples include ataxia - telangiectasia, myotonic dystrophy, generalized or partial lipodystrophy. In the available literature, we have not seen any observations of the combination of diabetes mellitus with telangiectasias, ataxia, hypermobility of the joints, hyper-stretch of the skin, hypertrophic cardiomyopathy. We give an observation. Patient A., 15 years old, was admitted to the children's department of the Institute of Diabetes of the Endocrinology Research Centre of the Russian Academy of Medical Sciences with complaints of sharp weakness in the legs, inability to move independently, bleeding gums, nosebleeds, thirst, polyuria. Mother 39 years old, father 43 years old, sister 12 years old, all are healthy. A patient from the 3rd pregnancy, which proceeded with the threat of interruption throughout pregnancy. Two previous pregnancies in the patient's mother ended in miscarriages. Childbirth at the 8th month in the buttock presentation, with placental abruption. Body weight at birth 1800 g, body length 44 cm. The patient was born in asphyxia, with hemorrhages in the skin of the face. At the age of 2 years, 3 months after ARVI, the child developed shortness of breath, liver enlargement up to 6 cm from under the edge of the costal arch along the midclavicular line, and an increase in systolic blood pressure to 130 mm Hg. Art. At 3 years 4 months old, the diagnosis was established: idiopathic hypertrophic subaortic stenosis. From this age, the patient was periodically disturbed by severe abdominal pain, accompanied by nausea and vomiting, which were regarded as an exacerbation of chronic pancreatitis. The last attack at 15 years (urine amylase within normal limits). At 6 years of age, due to frequent nosebleeds observed from the age of 5, as well as telangiectasia of the skin vessels, he was diagnosed with Osler–Weber–Rendu syndrome disease. In connection with the persisting hepatomegaly, a glucose tolerance test was performed at the age of 15 to exclude glycogenosis. A violation of tolerance to carbohydrates was revealed. After 1 month, symptoms of diabetes appeared. After another 1 month in a precomatous state, the patient was hospitalized in the regional children's hospital at the place of residence. At discharge, the daily dose of insulin was 44 units. 3 months after the manifestation of diabetes mellitus appeared weakness in the legs, which progressed rapidly. After 5 months, the patient was hospitalized at the Endocrinology Research Centre of RAMS.

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