Background. Type 0 glycogenosis is a genetic metabolic disorder characterized by the absence of glycogen synthesis of hepatic synthase and hence of liver glycogen stores in normal amounts. It is an extremely rare condition. Case study. This case is a 5-year and 11-monthold female child with asymptomatic severe hypoglycemia in the last two years. During the admission and afterwards, an extensive panel of paraclinical and imaging investigations was carried out to diagnose and document the case, which led to the specific genetic test. The result was positive for 2 heterozygous mutations in the GYS2 gene (hepatic glycogen synthase), the p.547C> T mutation was pathogenic (class 1) and c.465del, frameshift likely pathogenic (class 2). In order to integrate the clinical picture of patients with this condition and to establish potential correlations regarding the specific aspects with the general development and the phenotype, the oro-dental status was investigated. Conclusion. The investigations showed a positive correlation with literature data in several respects: low stature, hypoglycemia with hyperketonemia but normal plasma lactate, postprandial and contradictory hyperglycemia, delayed bone development, etc. Oro-buco-maxillary aspects showed a slight delay in the dental eruption. Dietary therapy and stricter dental care and additional prophylaxis are required.

Introduction: Rheumatoid arthritis patients have an increased risk of cardiovascular morbidity and mortality. Consecrated cardiovascular risk management strategies are underused in this patients. The purpose of this paper is to evaluate, in rheumatoid arthritis hospitalized patients, the level of cardiovascular risk and the degree of implementation of currently recommended cardiovascular risk reduction treatments. Materials and methods: 130 active rheumatoid arthritis patients, consecutively admitted in the Rheumatology Clinic of our hospital, were evaluated based on clinical exam, routine biochemistry, X-ray, electrocardiogram and cardiac ultrasound. We noted the characteristics of the rheumatic disease, the cardiovascular risk factors and organic heart disease. The risk for cardiac death at 10 years was estimated using the SCORE table; and adequate use of cardiovascular risk reduction therapies (antiaggregants, statin, antihypertensive medication) was checked. Results: Organic heart disease was identified in 28.4% of the patients. The most frequent encountered risk factors were dyslipidemia (62.3%), hypertension (54.6%) and abdominal obesity (53%). Globally, 66,1% of the patients were classified as having high cardiovascular risk. Hypertension and dyslipidemia were treated in 81.6%, respective 40.7% of the cases and controlled to recommended therapeutic goals in 70.4%, respective 22.2%. Among the patients with a symptomatic atherosclerotic disease, less than one half (48.6%) were treated with antiaggregants. Conclusion: Organic heart disease was frequent among rheumatoid arthritis patients; the most prevalent cardiovascular risk factors were hypertension, dyslipidemia and abdominal obesity. The treatment and control rates for hypertension were acceptable, but statins and antiaggregants were grossly underused.

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