Background. Neurofibromatosis type 1 (NF1) is an frequent autosomal dominant i nherited neuroectodermal disorder. The diagnosis is performed using the NIH Cons ensus criteria from 1987. In childhood, the diagnosis oft...Background. Neurofibromatosis type 1 (NF1) is an frequent autosomal dominant i nherited neuroectodermal disorder. The diagnosis is performed using the NIH Cons ensus criteria from 1987. In childhood, the diagnosis often seems to be difficul t because the symptoms are age dependent. Patients and methods. A total of 28 NF 1 children and adolescents aged from 6 months to 17 years were investigated over 7 years. Distinct symptoms were documented for the NIH criteria complimented by further signs such as macrocephaly, short stature, skeletal abnormalities, cere bral MRI changes, and mental development. Results. Café-au-lait spots and ple xiform neurofibroma existed at birth in 68%and 7%of subjects, respectively. In toddler age, macrocephalus (32%) and at school age scoliosis (43%)-were freq uently found. Cutaneous neurofibroma (43%) often developed at the age of 10 yea rs. Cerebral MRI revealed hyperintense structures in 85%of patients. Conclusion . In children and adolescents, NF1-criteria show an age-dependent appearance l eading to further diagnostic characteristics.展开更多
A 7-week-old infant was sent to hospital because of paresis of the facial nerve and the left arm. On examination the girl showed Hufnagel’s palsy and pseudoparalysis of the left arm. Because high inflammation paramet...A 7-week-old infant was sent to hospital because of paresis of the facial nerve and the left arm. On examination the girl showed Hufnagel’s palsy and pseudoparalysis of the left arm. Because high inflammation parameters were suspicious for osteomyelitis,antibiotic therapy was started. X-rays,MRI and scintigraphy of the bones showed no pathological findings. With changing pseudoparalytic symptoms and no signs of involvement of other organs,serologic examination then showed positive results for syphilis. A control X-ray of the extremities 2 weeks later showed periosteal thickening. The infant recovered completely after treatment with penicillin. After an uneventful pregnancy it is difficult to diagnose connatal syphilis if the only symptom is pseudoparalysis and the radiographic findings are normal. In newborns with unusual symptoms,connatal syphilis should be considered in the differential diagnosis.展开更多
The effects of illness and treatment of diabetes mellitus extend beyond medica l outcomes. We therefore evaluated health-related quality of life (HRQOL) in ch ildren (aged 8-12 years) and adolescents (aged 13-16 years...The effects of illness and treatment of diabetes mellitus extend beyond medica l outcomes. We therefore evaluated health-related quality of life (HRQOL) in ch ildren (aged 8-12 years) and adolescents (aged 13-16 years) with type 1 diabet es to compare their results with healthy peers and to identify HRQOL determinant s. A total of 68 children and adolescents from a tertiary care clinic which spec ialises in the management of diabetes, completed the generic KINDL-R questionna ire. This instrument for children and adolescents has six dimensions and an addi tional module assessing condition-related HRQOL. Overall, the HRQOL was not dif ferent between patients with type 1 diabetes and healthy controls. In some areas , children and adolescents with diabetes reported a better HRQOL compared to hea lthy peers: adolescents reported better psychological wellbeing ( P < 0.05) and children higher levels of well-being in the school domain ( P < 0.05). In gener al, children reported a better HRQOL ( P < 0.05) than adolescents with type 1 di abetes confirming age-related differences in HRQOL in the general popu lation. Lower HbA1c ( < 8%) and intensified insulin therapy ( > 3 injections/ day) were associated with a better HRQOL in different domains ( P < 0.05). The s ubscale “chronic illness”showed a better HRQOL ( P < 0.001) in children and ad olescents with diabetes compared to age-matched controls with other chronic con ditions. Conclusion:Children and adolescents from a paediatric department specia lising in diabetes management report good health-related quality of life. Young er age, good metabolic control and intensified insulin therapy are associated wi th a better health-related quality of life. Dimensions of health-related quali ty of life appear to play different roles at different ages, emphasising the imp ortance of the multidimensional health-related quality of life concept and the value of age-appropriate self-reports.展开更多
文摘Background. Neurofibromatosis type 1 (NF1) is an frequent autosomal dominant i nherited neuroectodermal disorder. The diagnosis is performed using the NIH Cons ensus criteria from 1987. In childhood, the diagnosis often seems to be difficul t because the symptoms are age dependent. Patients and methods. A total of 28 NF 1 children and adolescents aged from 6 months to 17 years were investigated over 7 years. Distinct symptoms were documented for the NIH criteria complimented by further signs such as macrocephaly, short stature, skeletal abnormalities, cere bral MRI changes, and mental development. Results. Café-au-lait spots and ple xiform neurofibroma existed at birth in 68%and 7%of subjects, respectively. In toddler age, macrocephalus (32%) and at school age scoliosis (43%)-were freq uently found. Cutaneous neurofibroma (43%) often developed at the age of 10 yea rs. Cerebral MRI revealed hyperintense structures in 85%of patients. Conclusion . In children and adolescents, NF1-criteria show an age-dependent appearance l eading to further diagnostic characteristics.
文摘A 7-week-old infant was sent to hospital because of paresis of the facial nerve and the left arm. On examination the girl showed Hufnagel’s palsy and pseudoparalysis of the left arm. Because high inflammation parameters were suspicious for osteomyelitis,antibiotic therapy was started. X-rays,MRI and scintigraphy of the bones showed no pathological findings. With changing pseudoparalytic symptoms and no signs of involvement of other organs,serologic examination then showed positive results for syphilis. A control X-ray of the extremities 2 weeks later showed periosteal thickening. The infant recovered completely after treatment with penicillin. After an uneventful pregnancy it is difficult to diagnose connatal syphilis if the only symptom is pseudoparalysis and the radiographic findings are normal. In newborns with unusual symptoms,connatal syphilis should be considered in the differential diagnosis.
文摘The effects of illness and treatment of diabetes mellitus extend beyond medica l outcomes. We therefore evaluated health-related quality of life (HRQOL) in ch ildren (aged 8-12 years) and adolescents (aged 13-16 years) with type 1 diabet es to compare their results with healthy peers and to identify HRQOL determinant s. A total of 68 children and adolescents from a tertiary care clinic which spec ialises in the management of diabetes, completed the generic KINDL-R questionna ire. This instrument for children and adolescents has six dimensions and an addi tional module assessing condition-related HRQOL. Overall, the HRQOL was not dif ferent between patients with type 1 diabetes and healthy controls. In some areas , children and adolescents with diabetes reported a better HRQOL compared to hea lthy peers: adolescents reported better psychological wellbeing ( P < 0.05) and children higher levels of well-being in the school domain ( P < 0.05). In gener al, children reported a better HRQOL ( P < 0.05) than adolescents with type 1 di abetes confirming age-related differences in HRQOL in the general popu lation. Lower HbA1c ( < 8%) and intensified insulin therapy ( > 3 injections/ day) were associated with a better HRQOL in different domains ( P < 0.05). The s ubscale “chronic illness”showed a better HRQOL ( P < 0.001) in children and ad olescents with diabetes compared to age-matched controls with other chronic con ditions. Conclusion:Children and adolescents from a paediatric department specia lising in diabetes management report good health-related quality of life. Young er age, good metabolic control and intensified insulin therapy are associated wi th a better health-related quality of life. Dimensions of health-related quali ty of life appear to play different roles at different ages, emphasising the imp ortance of the multidimensional health-related quality of life concept and the value of age-appropriate self-reports.
