Glycogen storage disease type III with hypoketosis.

A rare case of glycogen storage disease type III with unusually absent ketone body production during hypoglycemia is presented. A 10-month-old boy presented with asymptomatic hepatomegaly. GOT/GPT 2555/1160 IU/L, CK 302 IU/L, triglycerides 1223 mg/dL, cholesterol 702 mg/dL and uric acid 7.9 mg/dL. After a 9-hour fast, glucose was 27 mg/dL and adequate lipolysis without ketogenesis was observed (total/free carnitine 34.5/20 micromol/L, free fatty acids 1620 micromol/L and beta-hydroxybutyrate 172 micromol/L). Result of MCT (medium-chain triglycerides) load test: basal hydroxybutyrate 29 micromol/L rose to 5748 micromol/L. Treatment with a fat-restricted diet supplemented with formula containing MCT was initiated and the patient presented a satisfactory initial evolution. Three months later, CK were 3000 IU/L. Muscle biopsy was diagnostic of glycogenosis. Enzymatic activity in skin fibroblasts was 0% for amylo-1,6-glucosidase. The diagnosis of glycogenosis type III was established. Echocardiography performed at that time showed non-obstructive ventricular hypertrophy. Until now hypoketosis during hypoglycemia has only been described in glycogenosis type I.

[Anthropometric, dietetic and psychological changes after application of the "Niñ@s en movimiento" program in childhood obesity]. / Cambios antropométricos, dietéticos y psicológicos tras la aplicación del programa 'Niñ@s en movimiento' en la obesidad infantil.

BACKGROUND AND OBJECTIVE: "Niñ@s en movimiento" is an interventional programme (11 weekly sessions of 90 minutes' duration) designed to modify psychological aspects and nutritional and life style habits in obese children aged 6-12 and in their families. PATIENTS AND METHOD: Eighty-one obese children (46 girls, 35 boys), 6-12 years of age were included. Body mass index (BMI), Mediterranean diet (KIDMED), anxiety (CMAS-R) and depression tests (CDS) were evaluated in at the start and end of the programme. RESULTS: In 72 patients (88.9%) BMI decreased from a mean (standard deviation) 27.8 (3.8) to 26.5 (3.6) kg/m(2) (p < 0.001) and from 3.3 (1,4) to 2.6 (1.2) kg/m(2) (p < 0.001). Diary fruit intake increased from 63.3% to 82.7% of patients (p < 0.001) and greens from 45.6% to 88,2% of patients (p < 0.001). Breakfast intake of industrial cakes decreased from 17.7% to 1.3% of patients (p < 0.001) and the number of patients who skipped breakfast changed from 36.7% to 11.7% (p < 0.001). Anxiety and depression scores fell from 53.46 (27.69) to 47.22 (26.3) (p < 0.03) and from 29.68 to 16.88 (p < 0.001), respectively. The relative risks of suffering a depressive or anxiety disorder dropped from 38.8% to 22.5% (p < 0.001) and from 15% to 8.2% (p = 0.01) of the patients respectively. CONCLUSIONS: Application of the "Niñ@s en movimiento" programme leads to a decrease in BMI and in anxiety and depression scores and an increase in Mediterranean diet score.

[Eating disorders in young adolescents with type 1 diabetes]. / Trastornos de la conducta alimentaria en adolescentes jóvenes con diabetes mellitus tipo 1.

BACKGROUND AND OBJECTIVE: We aimed at determining the prevalence of eating disorders (ED) in young adolescents with type 1 diabetes. SUBJECTS AND METHOD: 60 boys and 38 girls with type 1 diabetes and 321 boys and 254 girls, age-matched non-diabetic controls. The Eating Attitudes Test (EAT-40) and semistructured diagnostic interview on Eating Disorders Examination (EDE) were used. Weight, height, body mass index (BMI), glycated hemoglobin and insulin manipulation for weight loss were evaluated. RESULTS: No anorexia or bulimia were found in diabetic patients and non-diabetic controls. Eating Disorders Not Otherwise Specified (EDNOS) were more prevalent in diabetic patients than in controls, both in boys (1.7% vs 0.9%; odds ratio [OR] = 1.7; CI 95%, 0.2-17.6) and girls (5.3% vs 1.6%; OR = 3.2; CI 95%, 0.6-17.2). Sub-threshold ED were more common in male diabetic patients than in non-diabetic peers (10% vs 4.4%; OR = 2.4; CI 95%, 0.9-6.6), and in female diabetic patients than in non-diabetic peers (10.5% vs 9.9%; OR = 1.1; CI 95%, 0.4-3.2). No statistical differences were found regarding these results. Glycated hemoglobin values were higher in diabetic patients with ED (9.7% [1.52]; 5.6 [2.8], n = 13) than in those without ED (8.4% [1.5]; 5.1 [2.7], n = 85); p = 0.049. Nine diabetic patients (9.1%) manipulated insulin for weight loss. CONCLUSIONS: EDNOS were more prevalent in male and female diabetic patients than in non-diabetic peers. Sub-threshold ED were more prevalent in male diabetic patients than in non-diabetic peers, with no differences between female diabetic patients and their non-diabetic peers.

Macroorchidism and panhypopituitarism: two different forms of presentation of FSH-secreting pituitary adenomas in adolescence.

BACKGROUND: FSH-secreting pituitary adenomas are extremely rare in children and are seldom associated with clinical manifestations of high serum gonadotrophin levels. Thus, most patients have a late presentation, usually as macroadenomas. CASE REPORTS: Two different clinical forms of presentation of FSH-secreting pituitary adenomas are reported: one in a 12-year-old boy with macroorchidism due to a pituitary microadenoma, probably FSH-secreting, and the other in a 15-year-old boy with panhypopituitarism due to an FSH-producing macroadenoma. Both patients presented slightly high or high FSH with low LH and high inhibin B levels. In the first case, the microadenoma was treated medically with cabergoline, which failed to reduce FSH and inhibin B levels. No radiological progression has been observed despite increasing testicular volume. In the second case, surgery was performed on the macroadenoma, leading to a decrease in FSH and inhibin B levels. The patient developed severe hypothalamic obesity and is currently under treatment with somatostatin. CONCLUSIONS: FSH-secreting pituitary tumors have an extremely variable clinical expression. The discrepancy between normal or slightly increased FSH and low LH values, together with high inhibin B levels, strongly suggests FSH hypersecretion which should be studied.

Glucose intolerance and diabetes are observed in the long-term follow-up of nonpancreatectomized patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene.

OBJECTIVE: To report the long-term follow-up of three nonpancreatectomized patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene. RESEARCH DESIGN AND METHODS: Oral glucose tolerance test (OGTT) and venous 24-h glucose-insulin profile were performed yearly from adolescence. RESULTS: Patient 1 (now aged 31 years) developed insulin-dependent diabetes at the age of 25 years. In patient 2 (now aged 17 years), impaired fasting glucose and a diabetic OGTT response with normal A1C values have been observed since the age of 10 years. In patient 3 (now aged 24 years), intolerant OGTT response and hyperglycemic episodes with normal A1C have been observed since the age of 16 years. All patients presented relatively low insulin levels during hyperglycemia, normal BMI, and negative autoantibodies (GAD antibody, insulinoma-associated protein 2, and islet cell antibody). CONCLUSIONS: Development of glucose metabolism impairment ranging from glucose intolerance to insulin-dependent diabetes is observed in the evolution of these patients.