Osteogenesis imperfecta (OI) is a genetic disease characterized by excessive bone fragility with fractures consecutive to minor trauma. Considering lack of standardization of therapy with pamidronate in children, it was our aim to present our experience over a period of 10 years regarding evolution and treatment in patients diagnosed with osteoporosis and OI. Nine patients diagnosed with OI were admitted to the First Pediatric Clinic, Timisoara. They were investigated (clinical, biomarkers of bone metabolism and imaging studies), and a quality-of-life questionnaire was used to evaluate the impact of OI. Treatment was performed with pamidronate 1 mg/kg/cycle, every 3 months. The patients were evaluated every 3 months. The most frequent was type III (three patients), and two patients were diagnosed with type II, while the other patients were diagnosed with other forms such as types IV, V, VI and VIII. The clinical expression was polymorphic, and the number of fractures was variable. Bone pain ameliorated just after the first cycle of pamidronate, while the activity and mobility increased quickly. Osteodensitometry in children over 12 years showed a decreased bone mineral density (BMD) with a significant improvement after treatment. The values of the bone alkaline phosphatase and osteocalcin changed after the antiresorptive treatment, and the quality of life of the children and their family improved. Treatment with pamidronate is beneficial for the patient, family and society, increases mobility and bone density, improves quality of life and reduces family dependence in children with OI.
Introducere. Apneea în somn (SA) la copil este subdiagnosticată. Compromiterea dezvoltării somatice şi alterarea calităţii vieţii sunt frecvent prezente. Apneea centrală în somn (CSA) poate reprezenta cauza episoadelor convulsive morfeice sau poate fi consecinţa acestora. Polisomnografi a reprezintă gold-standardul evaluării obiective a SA. Material şi metodă. Prezentăm un băiat în vârstă de 7 ani internat în septembrie 2013 pentru episoade de sufocare survenite în timpul somnului. Evaluarea s-a realizat prin anamneză, examen clinic, investigaţii paraclinice (funcţionale, imagistice, biologice) şi consulturi interdisciplinare. Rezultate. Repetate infecţii de căi respiratorii şi istoric de aproximativ 20 de zile al episoadelor de sufocare s-au stabilit anamnestic. Au fost diagnosticate următoarele: hipotrofie ponderală; rinită cronică; hipertrofie amigdaliană; disfuncţie ventilatorie obstructivă; apnee în somn formă mixtă predominant centrală; status atopic; sindrom convulsiv. Explorările imagistice au relevat aspecte normale. Tratamentul complex igieno-dietetic şi medicamentos a condus la dispariţia tulburărilor respiratorii în somn, cu normalizarea parametrilor spirometrici şi a statusului nutriţional. Concluzii. Studiul poligrafic al somnului a identificat apneea în somn, precizând predominanţa componentei centrale şi facilitând diagnosticul etiologic. Managementul interdisciplinar a condus la evoluţia favorabilă a cazului.
Introduction. Sleep apnea (SA) in children is underdiagnosed. Compromising somatic development and altered quality of life are frequently present. Central sleep apnea (CSA) may be the cause of convulsive episodes in sleep or could be their result. Polysomnography is the gold-standard of SA objective assessment. Material and methods. We present a 7-year-old boy hospitalized in September 2013 for choking episodes occurred during sleep. The assessment was made by history, clinical examination, laboratory investigations (functional, imaging, biological) and interdisciplinary checkups. Results. Repeated respiratory tract infection and a history of about 20 days of episodes of choking were established by anamnesis. Were diagnosed: underweight status; chronic rhinitis; tonsillar hypertrophy; obstructive ventilatory dysfunction; mixed sleep apnea with predominant central component; atopic status; convulsions. Imaging explorations revealed normal aspects. Complex hygienic-dietary and medical treatment has led to the disappearance of respiratory disorders during sleep, with normalization of spirometric parameters and nutritional status. Conclusions. Polygraphic sleep study identified sleep apnea, indicating the predominance of the central component and facilitating etiologic diagnosis. Interdisciplinary management led to favorable evolution of the case.
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