Evans’ Syndrome (ES) is defined as the combination of immune thrombocytopenia (ITP) and autoimmune haemol-ytic anemia (AIHA), in the absence of any known underlying etiology. Pathophysiology, epidemiology and outcome...Evans’ Syndrome (ES) is defined as the combination of immune thrombocytopenia (ITP) and autoimmune haemol-ytic anemia (AIHA), in the absence of any known underlying etiology. Pathophysiology, epidemiology and outcome remain unclear. Population. - Thirty-six children (20 male, 16 female), who were diagnosed in the SHIP french centres (Socié té d’hé matologie et d’immunologie pé diatri-que) between 1990 and 2002 with ES, were included in this retrospective study. Results. - Median age at diagnosis was 4 years. In 21 children, ES occurred in the setting of consanguinity, family history of autoimmune/ inflammatory disease, associated autoimmune disorder or immunoregulatory abnormalities (serum imunoglobulins, peripheral blood lymphocytes subsets, low level of the C3- C4 complement components, nuclear antibodies). Several successive treatments were used in this serie (med-ian: 3, range: 0- 10) including corticosteroid therapy (35/36), intravenous immunoglobulins (32/36), immu-nosuppressive agents (14/36), splenectomy (9/36) and anti CD 20 monoclonal antibodies (6/36). Patients with a low level of serum immunoglobulins were more often non-responders to corticosteroid therapy/intravenous immunoglobulins and required more frequently further therapy (P=0.03). Three patients died (intracranial bleeding, N=2, Guillain-Barre syndrome; N=1). Conclusion. - ES was a severe, life-threatening disease, requiring aggressive immunosuppressive therapy in as many as half the patients. Our forthcoming study aims to (i) describe homogeneously-studied and prospectively-analysed cohort of childhood ES, (ii) separate ES from specific immune deficiency (especially fas gene mutations), generalised autoi-mmune/inflammatory disorders and genetic diseases, (iii) identify well-defined ES subsets, (iv) establish prognostic factors and optimal treatment within these subsets.展开更多
Purpose. - To investigate the frequency of post lumbar puncture headaches (PLPH) after diagnostic lumbar puncture (LP) and to search for influence factors. Patients and methods. - Conducted over 6 months into 8 paedia...Purpose. - To investigate the frequency of post lumbar puncture headaches (PLPH) after diagnostic lumbar puncture (LP) and to search for influence factors. Patients and methods. - Conducted over 6 months into 8 paediatric services, the study concerned 2 to 15 years old children. The LP technic (cannula gauge, bevel orientation, child position, reinsertion of the stylet) was standardised. For each child questionnaires were filled with the parents 3 and 8 days after LP for inquiring headaches, postural characteristics, length and clinical consequences. Results. - Among 84 charts, 71 were exploitable. PLPH were observed in 25% of children. The mean duration was 5.9 days, mean bed rest was 1.4 day and mean antalgic treatment 1.7 day. The frequency of PLPH was not significantly influenced by age and sex, neither by the qualification of the physician performing the LP. The frequency was significantly lower when LP execution was easy (19.6 vs. 46.7% ; P < 0.05), and when the child had viral meningitis (8 vs. 34.8% ; P < 0.05). Conclusion. - We have found a more important frequency of PLPH than in previous paediatric studies. Clinical consequences justify other researches to precise influence factors and reduce the frequency of this complication.展开更多
We report on a paediatric observation of Cowden’ s disease in a 6- year- old child. Familial steroid- resistant nephrotic syndrome was associated to papulous and papillomatous lesions of gingiva and oral mucosa, mult...We report on a paediatric observation of Cowden’ s disease in a 6- year- old child. Familial steroid- resistant nephrotic syndrome was associated to papulous and papillomatous lesions of gingiva and oral mucosa, multiple hamartoma of the back and of upper limbs, facial dysmorphism and follicular thyroid cancer. Thyroid cancer evolved favorably after surgical treatment, radioactive iodine and L- thyroxin supplementation. Nephrotic syndrome evolved to chronic renal insufficiency after 11 years. The early diagnosis of Cowden’ s disease, or multiple hamartoma syndrome, allows a careful monitoring of the patients who are facing the risk of cancer transformation, which is the principal complication of the condition.展开更多
There is only a few data on sudden unexpected death (SUD) in the pediatric population, as well as the role of sport. Materials and methods. - Between 1980 and 2003, 2220 autopsies were performed at the Lyon’s forensi...There is only a few data on sudden unexpected death (SUD) in the pediatric population, as well as the role of sport. Materials and methods. - Between 1980 and 2003, 2220 autopsies were performed at the Lyon’s forensic institute for SUD (all ages) as defined by world health organization. Results. - Fifty-seven cases of SUD of cardiac origin concerned 6 to 18- year-old children. Hypertrophic cardiomyopathy and arhythmogenic right ventricular cardiomyopathy remained the main causes of SUD. Mitral valve prolapse were frequently observed and for the most part of the cases associated with other diseases. Twenty-four were observed during physical activity. Conclusion. - Our study confirms the low incidence of SUD and its male predominance in the pediatric population (47 males, 10 females). It seems that physical activity is not the decisive factor for SUD. The authors emphasized the necessity to get a rapid access to cardiac resuscitation devices, as well as the formation of collaborators. Some preventive measures could be done.展开更多
Hereditary angioneurotic edema is a dominant autosomal disease (incidence 1/150,000), whose diagnosis is crucial as this condition can lead to fatal asphyxia within minutes. We report the case of a three-year-old girl...Hereditary angioneurotic edema is a dominant autosomal disease (incidence 1/150,000), whose diagnosis is crucial as this condition can lead to fatal asphyxia within minutes. We report the case of a three-year-old girl, misdiagnosed as allergic asthma. Recognition of the syndrome led to adapted care restoring normal family and school life. Pathogenic cascades involved and therapeutic principles of this disease are reviewed.展开更多
We report a case of a spontaneous hemothorax in a 15- year-old girl because of costal exostosis. This possibly may have been provoked by a nontraumatic rupture of markedly dilated pleural vessels because of long-stand...We report a case of a spontaneous hemothorax in a 15- year-old girl because of costal exostosis. This possibly may have been provoked by a nontraumatic rupture of markedly dilated pleural vessels because of long-standing friction between the exostosis and the pleura. The authors conclude that exostosis of the rib is a rare cause of hemothorax in children and should be considered among possible etiologies in diagnosis.展开更多
An ileal perforation occurred shortly after birth in 4 very premature newborns. Diagnosis was made on an abdominal distension with a pneumoperitoneum on X-ray. There were no biological, radiological nor histological s...An ileal perforation occurred shortly after birth in 4 very premature newborns. Diagnosis was made on an abdominal distension with a pneumoperitoneum on X-ray. There were no biological, radiological nor histological signs of necrotizing enterocolitis. There were no digestive short- or long-term complications. According to the few authors who described this syndrome, there are some risk factors, but they were not clearly involved in our cases. Ileal perforation in the absence of signs of necrotizing enterocolitis is rarely reported but should be well known because of its good prognosis.展开更多
文摘Evans’ Syndrome (ES) is defined as the combination of immune thrombocytopenia (ITP) and autoimmune haemol-ytic anemia (AIHA), in the absence of any known underlying etiology. Pathophysiology, epidemiology and outcome remain unclear. Population. - Thirty-six children (20 male, 16 female), who were diagnosed in the SHIP french centres (Socié té d’hé matologie et d’immunologie pé diatri-que) between 1990 and 2002 with ES, were included in this retrospective study. Results. - Median age at diagnosis was 4 years. In 21 children, ES occurred in the setting of consanguinity, family history of autoimmune/ inflammatory disease, associated autoimmune disorder or immunoregulatory abnormalities (serum imunoglobulins, peripheral blood lymphocytes subsets, low level of the C3- C4 complement components, nuclear antibodies). Several successive treatments were used in this serie (med-ian: 3, range: 0- 10) including corticosteroid therapy (35/36), intravenous immunoglobulins (32/36), immu-nosuppressive agents (14/36), splenectomy (9/36) and anti CD 20 monoclonal antibodies (6/36). Patients with a low level of serum immunoglobulins were more often non-responders to corticosteroid therapy/intravenous immunoglobulins and required more frequently further therapy (P=0.03). Three patients died (intracranial bleeding, N=2, Guillain-Barre syndrome; N=1). Conclusion. - ES was a severe, life-threatening disease, requiring aggressive immunosuppressive therapy in as many as half the patients. Our forthcoming study aims to (i) describe homogeneously-studied and prospectively-analysed cohort of childhood ES, (ii) separate ES from specific immune deficiency (especially fas gene mutations), generalised autoi-mmune/inflammatory disorders and genetic diseases, (iii) identify well-defined ES subsets, (iv) establish prognostic factors and optimal treatment within these subsets.
文摘Purpose. - To investigate the frequency of post lumbar puncture headaches (PLPH) after diagnostic lumbar puncture (LP) and to search for influence factors. Patients and methods. - Conducted over 6 months into 8 paediatric services, the study concerned 2 to 15 years old children. The LP technic (cannula gauge, bevel orientation, child position, reinsertion of the stylet) was standardised. For each child questionnaires were filled with the parents 3 and 8 days after LP for inquiring headaches, postural characteristics, length and clinical consequences. Results. - Among 84 charts, 71 were exploitable. PLPH were observed in 25% of children. The mean duration was 5.9 days, mean bed rest was 1.4 day and mean antalgic treatment 1.7 day. The frequency of PLPH was not significantly influenced by age and sex, neither by the qualification of the physician performing the LP. The frequency was significantly lower when LP execution was easy (19.6 vs. 46.7% ; P < 0.05), and when the child had viral meningitis (8 vs. 34.8% ; P < 0.05). Conclusion. - We have found a more important frequency of PLPH than in previous paediatric studies. Clinical consequences justify other researches to precise influence factors and reduce the frequency of this complication.
文摘We report on a paediatric observation of Cowden’ s disease in a 6- year- old child. Familial steroid- resistant nephrotic syndrome was associated to papulous and papillomatous lesions of gingiva and oral mucosa, multiple hamartoma of the back and of upper limbs, facial dysmorphism and follicular thyroid cancer. Thyroid cancer evolved favorably after surgical treatment, radioactive iodine and L- thyroxin supplementation. Nephrotic syndrome evolved to chronic renal insufficiency after 11 years. The early diagnosis of Cowden’ s disease, or multiple hamartoma syndrome, allows a careful monitoring of the patients who are facing the risk of cancer transformation, which is the principal complication of the condition.
文摘There is only a few data on sudden unexpected death (SUD) in the pediatric population, as well as the role of sport. Materials and methods. - Between 1980 and 2003, 2220 autopsies were performed at the Lyon’s forensic institute for SUD (all ages) as defined by world health organization. Results. - Fifty-seven cases of SUD of cardiac origin concerned 6 to 18- year-old children. Hypertrophic cardiomyopathy and arhythmogenic right ventricular cardiomyopathy remained the main causes of SUD. Mitral valve prolapse were frequently observed and for the most part of the cases associated with other diseases. Twenty-four were observed during physical activity. Conclusion. - Our study confirms the low incidence of SUD and its male predominance in the pediatric population (47 males, 10 females). It seems that physical activity is not the decisive factor for SUD. The authors emphasized the necessity to get a rapid access to cardiac resuscitation devices, as well as the formation of collaborators. Some preventive measures could be done.
文摘Hereditary angioneurotic edema is a dominant autosomal disease (incidence 1/150,000), whose diagnosis is crucial as this condition can lead to fatal asphyxia within minutes. We report the case of a three-year-old girl, misdiagnosed as allergic asthma. Recognition of the syndrome led to adapted care restoring normal family and school life. Pathogenic cascades involved and therapeutic principles of this disease are reviewed.
文摘We report a case of a spontaneous hemothorax in a 15- year-old girl because of costal exostosis. This possibly may have been provoked by a nontraumatic rupture of markedly dilated pleural vessels because of long-standing friction between the exostosis and the pleura. The authors conclude that exostosis of the rib is a rare cause of hemothorax in children and should be considered among possible etiologies in diagnosis.
文摘An ileal perforation occurred shortly after birth in 4 very premature newborns. Diagnosis was made on an abdominal distension with a pneumoperitoneum on X-ray. There were no biological, radiological nor histological signs of necrotizing enterocolitis. There were no digestive short- or long-term complications. According to the few authors who described this syndrome, there are some risk factors, but they were not clearly involved in our cases. Ileal perforation in the absence of signs of necrotizing enterocolitis is rarely reported but should be well known because of its good prognosis.
