[Bone mineral density in patients with cystic fibrosis by dual-energy X-ray absorptiometry]. / Etude de la minéralisation osseuse de patients mucoviscidosiques par absorptiométrie biphotonique à rayons X.

BACKGROUND: The aim of this study was to assess the bone mineral density of cystic fibrosis patients. PATIENTS AND METHODS: We have retrospectively studied 45 patients with cystic fibrosis, 22 females and 23 males, aged between six and 27 years (mean 13 +/- 5.5 years). Nutritional status, Shwachman score, pulmonary function, serum calcium and 25-hydroxyvitamin D levels and lumbar bone mineral density by dual energy X-ray absorptiometry were assessed. RESULTS: The average height of the patients was 97 +/- 4% (range: 86-106) and body mass index 93 +/- 10% (range 77-114) of the normal values of age. The average Shwachman score was 80 +/- 11/100 (range: 47-96). The forced expiratory volume in 1s was 80 +/- 29% (21-128) and the vital capacity 85 +/- 21% (range: 40-122) of the predicted values. The serum levels of calcium and 25-hydroxyvitamin D were lower than normal values in six cases and one case respectively. Thirty-eight patients had a mean lumbar spine bone mineral Z-score which was -1.35 +/- 1.2 DS and 84.7 +/- 13.5% of the normal values. It was correlated with the height, the body mass index, the Shwachman score, the FEV 1 and the vital capacity. CONCLUSION: Decreased bone density is frequent among cystic fibrosis subjects. It shows a lack of control of the illness. It remains unknown with usual investigation; the dual X-ray absorptiometry should, each time it is possible, take part of investigations in those patients.

[Effect of oral biphosphonates in patients with cystic fibrosis and low bone mineral density]. / Efficacité des biphosphonates oraux sur la déminéralisation osseuse des patients atteints de mucoviscidose.

UNLABELLED: Disturbances in bone mineralization are frequent in cystic fibrosis but few studies have focused on the use of biphosphonates in this indication, and none on the use of oral etidronate. We report our experience using this latter treatment. METHODS: The study was retrospective and included five children and three adults with cystic fibrosis (six males and two females) aged seven to 30 years with Z-scores for lumbar bone density lower than -2 SD after one year of calcium (1 g/day) and vitamin D (900 UI/day and 300,000 UI/6 months) supplementation. All were treated during one year with etidronate: four courses of 15 days (one course per trimester) with doses ranging from 4 to 8 mg/kg per day. Calcium and vitamin D supplementation was continued between the etidronate treatment course. Total body and lumbar bone mineral density (BMD) were measured three times: at the beginning and the end of the year of calcium and vitamin D supplementation and at the end of the year of supplementation plus the four courses of etidronate treatment. RESULTS: The increase in BMD in absolute value (g/cm2) and in Z-score was significantly higher (P <0.05) after the year of combined supplementation and etidronate treatment (total body g/cm2: 3+/-1%, Z-score: 2+/-1% and lumbar spine g/cm2: 6+/-5%, Z-score: 3+/-4%) than after supplementation alone (total body g/cm2: -1+/-3%, Z-score: -4+/-3% and lumbar spine g/cm2: -1+/-3%, Z-score: -4+/-4%). Supplementation alone improved the total BMD in only one patient and the lumbar BMD in three, whereas after etidronate treatment the total and lumbar BMD were improved in the eight patients. None of the patients presented with side effects that could be attributed to the treatment. CONCLUSION: Oral etidronate treatment is well-tolerated and capable of improving bone mineralization in patients with cystic fibrosis. Further work will be necessary to determine the optimal dosage and the optimal frequency for the treatment series.

[Mitochondrial cytopathy: an unusual infantile cause of total villous atrophy]. / Cytopathie mitochondriale: une cause inhabituelle d'atrophie villositaire totale chez le nourrisson.

Villous atrophy in an infant immediately suggests food intolerance. We report a case with an unusual cause. This female infant was first examined at 5 months for anorexia and failure to thrive. Intestinal biopsy showed total villous atrophy. A diet excluding gluten and cow milk proteins failed to improve her condition and the infant was hospitalized at 7 months for further investigations. The infant was hypotonic with a head lag. No other clinical sign was noted. Serum transaminases were increased 5- to 10-fold and CSF proteins concentration was increased. Metabolic investigations revealed hyperlactacidaemia and an increased lactate/pyruvate ratio during fasting and feeding, suggesting a mitochondrial cytopathy. Respiratory chain enzymatic activity measurements confirmed the diagnosis and showed severely decreased activities of complexes I, III and IV in both the liver and muscle. Molecular analysis demonstrated depletion of mitochondrial DNA in the liver (75%) and in muscle (97%). The infant was discharged under continuous enteral nutrition. Improvement was of short duration and the infant died at 1 year of age of massive hepatic failure. This is the first report of a mitochondrial DNA depletion with total villous atrophy and malabsorption as early clinical onset. A mitochondrial cytopathy should be considered in such conditions when food exclusion diets fail.

[Effectiveness and dangers of interferon-alpha in the treatment of severe hemangiomas in infants]. / Efficacité et danger de l'interféron alpha dans le traitement des hémangiomes graves du nourrisson.

UNLABELLED: Alarming hemangiomas, due to their site or repercussions, require pharmacological treatment. Corticosteroid therapy is indicated by first intention. In the event of failure, interferon alpha is proposed. CASE REPORTS: Case 1. A five-week-old infant was admitted to hospital for an extensive hemangioma of the left side of the face and neck with necrosis of the upper lip and ear. Prednisolone (2 mg/kg/day) by intravenous route brought about no improvement. Interferon alpha 2a (3 MU/m2/day of Referon by subcutaneous injection) enabled regression of lesions from the sixth month of treatment. After 11 months of treatment, the hemangioma had all but disappeared and interferon therapy was stopped. Repair surgery was planned at 24 months of age. Case 2. A one-month-old infant suffered from a hemangioma of the right side of the face with orbital invasion and risk of amblyopia. Prednisone (2 mg/kg/day) by oral route was ineffective. Interferon alpha 2a enabled regression of the hemangioma and the eye opened from the third month of treatment. Interferon therapy was stopped after 14 months. Initial repair surgery intervention was possible at two years of age. Spastic paraplegia was diagnosed at 18 months of age. The brain and medullar magnetic resonance imaging was normal. No etiology could explain the neurological attack. The possible toxic effect of interferon alpha is discussed. CONCLUSION: Interferon alpha is an effective treatment for hemangiomas. It significantly reduces spontaneous regression time. The uncertainty of long-term effects in infants with hemangiomas incites its indication to be limited to alarming corticosteroid-resistant forms and necessitates prolonged neurological surveillance.