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1.
Thirteen children with intrinsic spinal cord tumours were seen between 1984 and 1995. In only one was this the presumptive diagnosis at referral, despite a high incidence of characteristic features. Eight had presented to their local paediatrician, four to local orthopaedic teams, and one to a general surgeon. Eleven had back pain. Eleven had either spinal curvature or change in gait. The interval between onset of symptoms and diagnosis ranged from one week to six years, with a mean of 17.5 months. In nine children symptoms had been present for four or more months. In nine, unrewarding investigations had been carried out. This paper highlights typical presenting features of these tumours and how earlier diagnosis can be achieved.  相似文献   

2.
This study was undertaken to investigate the evolution of clinical features between onset of symptoms and diagnosis in children with brain tumours and to identify ways of shortening the time to diagnosis. One hundred and thirty-nine children with a brain tumour were recruited from four UK paediatric neuro-oncology centres. Children had a median of one symptom or sign at symptom onset and six by diagnosis. The symptoms and/or signs experienced at symptom onset and at diagnosis were as follows: headache in 55 and 81 children, nausea and vomiting in 39 and 88 children, motor system abnormalities in 31 and 93 children, cranial nerve palsies in 24 and 75 children, visual system abnormalities in 23 and 96 children, endocrine or growth abnormalities in 10 and 35 children and behavioural change in 4 and 55 children. The median time between symptom onset and diagnosis (symptom interval) was 3.3 months. A longer symptom interval was associated with head tilt, cranial nerve palsies, endocrine and growth abnormalities and reduced visual acuity. More than half of children with brain tumours developed problems with vision and more than a third developed motor problems, cranial nerve palsies, behavioural change, or nausea and vomiting between symptom onset and diagnosis.  相似文献   

3.
目的 探讨儿童持续性部分性癫癎(EPC)患者的病因学及临床特点,促进对EPC的认识。方法 回顾性分析6例有EPC发作的儿童癫癎患者的临床特点及诊疗过程,并比较不同病因所致患者的临床及实验室特点和预后差异。结果 6例患儿中男1例、女5例,起病年龄在1岁7个月至9岁,2例诊断为Rasmussen脑炎(RE),1例为局灶性皮层发育不良(FCD),1例为POLG基因突变所致Alpers综合征,1例为Angelman综合征(AS),1例为结核性脑膜炎,后两例患者EPC发作分别有癫癎持续状态所致急性脑病和颅脑手术的诱因,余4例患儿EPC发作为自然病程进展。所有患者具有除EPC以外的局灶性癫癎发作,症状学包括自动症、双侧非对称性强直、偏转、复杂运动、植物神经症状等,部分伴有意识障碍。EPC持续时间为数天或数月。所有患儿头颅磁共振(MRI)均有异常发现,包括局部异常信号、皮层肿胀、弥漫或一侧脑萎缩、局部皮层增厚、层状坏死等。3例患者行头颅PET/CT扫描并发现局部高代谢或高代谢与低代谢并存。所有患儿脑电图(EEG)均有异常,异常电活动分布分别为脑区性、半球性或弥漫性,EPC发作时EEG改变部分可识别、部分不易辨认。所有患者EPC发作对于抗癫癎药物治疗均不敏感,AS患儿的EPC相对自限;FCD患儿行癫癎病灶切除术,术后发作控制,未遗留神经功能障碍;1例诊断为RE的患儿,行功能性大脑半球切除术,术后无发作,遗留明显功能障碍。Alpers综合征患者预后最差。结论 EPC是特殊癫癎发作类型,儿童患者的病因以免疫炎症及代谢性病因为主,治疗方案的选择、疗效及预后取决于病因。  相似文献   

4.
In right congenital diaphragmatic hernia (RCDH), several clinical diagnostic pitfalls are possible and should be known to those caring for infants and children with this disorder. The records of the 18 patients at Hotel Dieu de France Hospital with a history of CDH between 1990 and 1999 were collected; those of the ten who had a RCDH were reviewed retrospectively. The mean age at diagnosis was 6 months; the male-to-female ratio was 2:3. The delay between the first symptom and the diagnosis ranged between 0 and 10.5 months (mean 4.5 months). An acute presentation was observed in four cases, consisting of respiratory distress in three; the 4th presented with gastric volvulus and intestinal obstruction. The presenting symptoms were mild in four cases; recurrent respiratory infections in three and failure to thrive in one. The diagnosis was incidental in two cases during the evaluation of respiratory symptoms attributed to an atrial septal defect. The radiologic findings provided by a chest radiograph (CxR) were sufficient to make an accurate diagnosis in eight cases and peritoneography was useful in one. In six cases, the presenting CxR had been misinterpreted as normal or acute lobar pneumonia. Pathologic findings at surgery consisted of lateral and posterior right diaphragmatic defects in nine cases; the defect was lateral and anterior in one. A hernia sac was found in seven cases; malrotation was present in three. Surgical correction was done by an abdominal approach in nine cases and a thoracic approach in one. The diaphragmatic defect was repaired by transverse closure in six cases, diaphragm plication in three and prosthetic closure in one. The postoperative outcome was uneventful in eight cases. Two patients died. Thus, RCDH seems to cause less severe symptoms than left-sided LCDH. It usually manifests beyond the neonatal period as respiratory or gastrointestinal symptoms. The diagnosis should be made easily by a CxR. The presence of a hernia sac correlated with a mild presentation. An abdominal surgical approach is preferred.  相似文献   

5.
Between 1979 and 1994, 21 children (nine females, 12 males) with intracranial tumours diagnosed before the age of 2 years (range 2-23 months) were treated at the University Hospital of Wales. The commonest presenting symptoms were vomiting (n = 9) and unsteadiness (n = 8); the commonest presenting sign was enlarged occipitofrontal circumference (> 97th centile in 16 and > 90th centile in a further two). In five cases with signs of raised intracranial pressure, meningitis was the clinical diagnosis, and a lumbar puncture was performed. For cases with long delays in diagnosis, multiple other disorders had been considered and the significance of head enlargement had not been recognised. In very early childhood, intracranial tumours are uncommon and can mimic other disorders, especially meningitis. Early neuroimaging is advised when a child presents with recent onset of neurological symptoms and a disproportionately large head.  相似文献   

6.
Between 1979 and 1994, 21 children (nine females, 12 males) with intracranial tumours diagnosed before the age of 2 years (range 2-23 months) were treated at the University Hospital of Wales. The commonest presenting symptoms were vomiting (n = 9) and unsteadiness (n = 8); the commonest presenting sign was enlarged occipitofrontal circumference (> 97th centile in 16 and > 90th centile in a further two). In five cases with signs of raised intracranial pressure, meningitis was the clinical diagnosis, and a lumbar puncture was performed. For cases with long delays in diagnosis, multiple other disorders had been considered and the significance of head enlargement had not been recognised. In very early childhood, intracranial tumours are uncommon and can mimic other disorders, especially meningitis. Early neuroimaging is advised when a child presents with recent onset of neurological symptoms and a disproportionately large head.  相似文献   

7.
The case histories of 125 children with hypertension and no apparent primary CNS disease were analyzed for neurological symptoms or complications. Eleven children had neurological symptoms of high blood pressure. In only one of these patients was the diagnosis of arterial hypertension made before the observation of the neurological findings. The symptoms were severe headache in eight children, convulsions and coma in four, hemiplegia in two, and impaired vision and apraxia in one child. Symptomatology was rapidly reversed by antihypertensive treatment in four children, while six had long-term stigmata and one child died in hypertensive crisis. Because elevated arterial pressure can cause severe neurological disease, routine blood pressure measurement in children--especially those with neurological symptomatology--is stressed.  相似文献   

8.
BACKGROUND: Essential thrombocythemia (ET) rarely occurs in the pediatric population and little is known about the clinical course and the molecular characteristics. PROCEDURE: In this retrospective multi-institutional study we examine the clinical, hematological, and molecular features of 12 children aged 5-16 years with thrombocytosis and a suspected diagnosis of ET. RESULTS: Median follow-up was 59 months (range 10-72). Seven patients presented with clinical symptoms potentially related to thrombocytosis. The remaining five patients were diagnosed incidentally. Median platelet count at diagnosis was 1,325 x 10(9)/L (range 600-3,050). In 11 out of 12 cases bone marrow morphology was consistent with ET, the remaining patient had chronic idiopathic myelofibrosis. Cytogenetic analyses were normal in all studied cases and only one out of nine analyzed cases harbored a JAK(V617F) allele. Within 6 months after initial presentation one patient who was initially asymptomatic developed thrombosis and another patient had mild bleeding. Eight patients were treated with acetylsalicylic acid, one patient received hydroxyurea, and two patients received anagrelide. At last follow-up, all patients were alive and none had developed leukemia. Five patients experienced hematological remission. Two children had not received any therapy. During the course of their disease, nine patients developed symptoms possibly attributable to an elevated platelet count. CONCLUSIONS: In JAK2 mutation negative cases, long-term follow-up is helpful to distinguish between primary and secondary thrombocytosis. Secondary cases are not associated with organomegaly but may present with unspecific symptoms. Indications for treatment in children remain unclear.  相似文献   

9.
Opsoclonus-myoclonus syndrome (OMS) in children is a rare neurological condition with opsoclonus, myoclonus, ataxia and irritability in the first 2 years of life. It can be idiopathic, parainfectious, or paraneoplastic with tumours of the neural crest. Few studies of long-term follow-up after OMS have been published. We investigated the motor, cognitive and behavioural outcome of ten patients (eight girls and two boys) seen between 1987 and 2002. We reviewed the records and reassessed the patients. A ganglioneuroma was found in one patient and a neuroblastoma in another. Tumour resection did not influence the OMS. The age at diagnosis was 10–24 months and the follow-up period 1–17 years (average 6.5 years). The interval between the first signs and symptoms and starting treatment was 2–12 weeks: treatment consisted of different immunosupressants. Remission was achieved within 5 months in seven, and relapses were present in seven of ten. At follow-up, only one child had mild ataxia. IQ testing was performed in nine with scores below 75 in four and above 85 in four. Attention deficit and visuomotor difficulties led to school problems with special needs, also in those three children with normal IQs. Only two children were attending regular schools. Behavioural problems were reported in seven, and speech difficulties were present in five. In conclusion, the long-term outcome in our patients with OMS was dominated by cognitive and behavioural problems and not by ataxia. Compared with previous reports, our patients were treated earlier. Larger studies and uniform treatment protocols are needed to demonstrate whether early and prolonged immunosupressant therapy has a favourable influence on outcome.  相似文献   

10.
OBJECTIVE: To determine the epidemiology of Munchausen syndrome by proxy (MSBP) in New Zealand and describe the effects of this condition on children and their paediatricians. METHODOLOGY: A mail-out survey was sent to all paediatricians in New Zealand in 1999. Paediatricians were asked to identify all cases of MSBP, non-accidental poisoning or non-accidental suffocation diagnosed or suspected in children less than 16 years of age that had been seen in the past 12 months. Those paediatricians who identified a case were then interviewed by telephone to ensure that identified cases were new cases and that they were unique. RESULTS: Responses were obtained from 148 (95%) of 156 practising paediatricians in New Zealand. Eighteen unique cases of MSBP were identified where the diagnosis had been made in the preceding 12 months. The incidence rate for MSBP in children aged less than 16 years was 2.0/100 000 children. Eleven (61%) of the 18 cases were referred to child protection agencies or the police. The mean time taken to diagnosis from initial presentation was 7 months in the cases referred to child protection agencies and 23 months in cases not referred. The median age at diagnosis was 2.7 years. The mother was the suspected perpetrator in all cases. Most children (72%) presented with multiple symptoms. Over half (55%) had an underlying chronic illness. The morbidity for the child in the majority of cases was not severe, and in nine (50%) cases it was noted that following diagnosis there was improvement or resolution of symptoms. Ten (56%) of the 18 paediatricians involved with cases reported experiencing considerable stress. CONCLUSIONS: The annual incidence in New Zealand of MSBP in children under 16 years is higher than that reported from other countries. Chronic illness is often associated with this condition. The morbidity for the majority of children was not severe and often improved with diagnosis. Paediatricians reported stress and difficulty in association with caring for children with this syndrome of child abuse.  相似文献   

11.
We analyzed the clinical and bacteriologic features of 12 episodes of spontaneous bacterial peritonitis (SBP) in 11 children (four boys, median age 5.5 years) with chronic liver disease. All patients had cirrhosis and ascites; four had hypersplenism, and one was asplenic. Symptoms included increasing abdominal distention, pyrexia, abdominal pain, gastrointestinal disturbance, and encephalopathy. Nine had rebound tenderness on abdominal palpation, and 12 had reduced bowel sounds. The most frequent organisms isolated from culture of ascitic fluid were Streptococcus pneumoniae (nine). Klebsiella (two), and Haemophilus influenzae (one); blood cultures grew identical organisms in nine. Seven patients died despite intensive antibiotic therapy. In the 3 months prior to onset of SBP, defective yeast opsonization and reduced serum concentration of C4 were found in all nine children tested; eight had reduced concentration of C3. Functional deficiency of all complement components was present in four tested within 1 to 5 months of the onset. In contrast, only eight of 59 cirrhotic children without SBP had low C3, and eight had defective yeast opsonization, although 35 had low C4 values. Four of the patients with SBP and low C3 and C4 concentrations had normal concentrations at the time of diagnosis of liver disease 2 to 5 years previously. Opsonization of type III pneumococci was reduced in sera from three patients who subsequently developed pneumococcal peritonitis. The incidence of SBP in children with chronic liver disease is similar to that in adults, as are the clinical features. Our observations suggest that complement deficiency induced by chronic liver disease may be important in the pathogenesis of SBP.  相似文献   

12.
Retrospective analysis was performed to assess the natural history in relation to clinical and haemodynamic features in 37 patients in whom hypertrophic cardiomyopathy had been diagnosed in childhood. At diagnosis they were aged 1 to 14 years (mean 9 years). Eighteen presented with chest pain and either dyspnoea or symptoms of impaired consciousness or both; 19 were asymptomatic and were referred for evaluation of abnormalities detected during physical examination. During a mean follow up of nine years, 18 patients died, a cumulative annual medical mortality of 4.8%. Five patients experienced severe dyspnoea or chest pain: two of these had progressive dyspnoea and died in cardiac failure, and three died after myectomy. The 19 survivors were compared with the 11 sudden deaths. Eleven of the survivors and five of the sudden deaths were asymptomatic. Of 18 clinical, electrocardiographic, and haemodynamic features only syncope and electrocardiographic evidence of right ventricular hypertrophy were associated with sudden death. In children with hypertrophic cardiomyopathy sudden death was common and was not well predicted by clinical, electrocardiographic, or haemodynamic findings. Hypertrophic cardiomyopathy indicates a poor prognosis even if symptoms are absent or mild.  相似文献   

13.
OBJECTIVE: To determine the presenting features of brain tumours in children. DESIGN: Retrospective case note review. SETTING: Paediatric and neurosurgical services at the Wessex Neurology Centre and Southampton General Hospital, UK. Patients: 200 patients presenting with a CNS tumour between 1988 and 2001. RESULTS: The commonest first presenting symptoms were headache (41%), vomiting (12%), unsteadiness (11%), visual difficulties (10%), educational or behavioural problems (10%), and seizures (9%). The commonest symptoms occurring at any time were headache (56%), vomiting (51%), educational or behavioural problems (44%), unsteadiness (40%), and visual difficulties (38%). Neurological signs were present at diagnosis in 88%: 38% had papilloedema, 49% cranial nerve abnormalities, 48% cerebellar signs, 27% long tract signs, 11% somatosensory abnormalities, and 12% a reduced level of consciousness. The median symptom interval was 2.5 months (range 1 day to 120 months). A short symptom interval was significantly associated with high grade tumours and patient age of 3 years or younger. CONCLUSIONS: The well known predominance of headache in children with CNS tumours is confirmed. Visual, behavioural, and educational symptoms were also prominent. With the exception of seizures, every initial symptom was accompanied by other symptoms or signs by the time of diagnosis. Questions about visual symptoms and educational or behavioural difficulties, as well as the more widely recognised symptoms of raised intracranial pressure and motor dysfunction, are important in the diagnosis of brain tumours, as are vision assessment and the appropriate plotting of growth and head size.  相似文献   

14.

Aims

This study analysed the clinical features of a cohort of children with intracranial germ cell tumours (IC-GCTs). We retrospectively reviewed timelag between symptoms onset, clinic-radiological findings, diagnosis and outcomes.

Methods

Symptoms at diagnosis were divided into four groups: (1) raised intracranial pressure (RICP); (2) visual impairment; (3) endocrinopathies; (4) other. Total diagnostic interval (TDI), defined as the interval between symptom onset (including retrospective recall of symptoms) and definitive diagnosis of IC-GCT, was calculated and compared to survival rates.

Results

Our cohort included 55 children with median follow-up of 78.9 months (0.5–249.9). The majority (63.6%) had germinomas and 10.9% were metastatic at diagnosis. IC-GCTs were suprasellar (41.8%), pineal (36.4%), bifocal (12.7%) or in atypical sites (9.1%). The most common presenting symptoms were related to RICP (43.6%); however, by the time of tumour diagnosis, 50.9% of patients had developed endocrine dysfunctions. All pineal GCTs manifested with RICP or visual impairment. All suprasellar GCTs presented with endocrinopathies. TDI ranged between 0.25 and 58.5 months (median 4 months). Pineal GCTs had the shortest TDI (median TDI 1 month versus 24 months in suprasellar GCTs, p < .001). TDI > 6 months was observed in 47.3% of patients and was significantly associated with endocrine presenting symptoms. No statistically significant difference was found in progression-free survival and overall survival between patients with TDI > 6 months and with TDI ≤ 6 months.

Conclusion

Approximately half of the IC-GCT patients in this cohort had TDI > 6 months. These presented mostly with endocrine deficits. TDI > 6 months was not associated with increased relapse or mortality rates.  相似文献   

15.
During a 40-month period, in 24 of 643 (4%) newly diagnosed patients with systemic cancer younger than 18 years of age (range: 3 months to 17 years) spinal cord disease developed. Patients with spinal cord disease included 21 children with metastatic spinal cord compression, two with treatment-related transverse myelopathies, and one with an anterior spinal artery stroke. Spinal cord disease occurred in 13 of 102 children (12%) with sarcomas, six of 82 (7%) with neuroblastomas, and four of 94 (4%) with lymphomas. Spinal cord compression occurred as the presenting sign of malignancy in six children (four with sarcomas and two with lymphomas). In the remaining 15 patients, cord compression occurred a median of 13 months after initial diagnosis, and in four patients it occurred at the time of first relapse. Symptoms of metastatic cord compression included back pain in 17 patients (80%), weakness in 14 (67%), sphincter dysfunction in 12 (57%), and sensory abnormalities in three (14%). Findings on plain radiographs of the spine were abnormal in only seven of 20 patients with cord compression, and myelography was needed to differentiate compression from other causes of spinal cord disease. Treatment included high-dose corticosteroids followed by operation (seven patients) or radiotherapy (14 patients). After treatment, nine of 15 nonambulatory patients became ambulatory, and five of 10 incontinent patients regained sphincter control. None of the patients with nonmetastatic spinal cord disease had a satisfactory outcome.(ABSTRACT TRUNCATED AT 250 WORDS)  相似文献   

16.
Forty-one children with transient synovitis of the hip and 10 children with Legg-Calve-Perthes disease were followed. All 41 cases of transient synovitis had a benign outcome. In this series, nine of the 10 children with Legg-Calve-Perthes disease were diagnosed upon their first roentgenographic examination. One child whose first diagnosis was transient synovitis remained symptomatic for 4 months, when he developed roentgenologic changes consistent with Perthes disease. The literature is reviewed and 455 cases of transient synovitis analyzed. Only one patient with transient synovitis developed Legg-Calve-Perthes disease after having been asymptomatic for a period of 3 months. In 17 other cases, symptoms persisted until Legg-Calve-Perthes was diagnosed. It is suggested that transient synovitis is a benign disease and that only children with protracted symptoms are at risk to develop Perthes disease.  相似文献   

17.
The relationship between the results of nine laboratory tests and inflammatory activity in the colon assessed macroscopically (macro) and histologically (hist) has been studied in 60 children and adolescents, 36 with ulcerative colitis (UC), and 24 with Crohn's colitis (CC). The mean duration of disease was 38 months. Eleven patients were newly diagnosed and not treated. Special attention was paid to severe and extensive colitis (SEC), in other words, moderate or severe inflammation in at least six of eight colon segments. A significant correlation was found between some laboratory parameters and the inflammatory activity of colonic mucosa. In UC, the following abnormal laboratory test results only occurred in SEC/macro: thrombocytosis, low serum albumin, and high serum orosomucoid. The combination of low serum iron and low or normal total iron binding capacity (TIBC) occurred in seven cases, six of whom had SEC/macro. Eleven of the 17 patients with SEC/macro had at least one of these four test results. SEC/hist was indicated only by thrombocytosis and high orosomucoid. In CC, a combination of low serum iron and low TIBC only occurred in SEC/macro. Thirteen of 36 patients with UC (36%) and four of 24 with CC (17%) had no abnormal test results.  相似文献   

18.
Case records of the 157 children with soft tissue sarcoma in the Manchester Children's Tumour Registry diagnosed between 1954 and 1983 were reviewed for reference to diagnostic features of neurofibromatosis (NF). Interviews were carried out with 124 families of these children. Four children in the series were identified as having NF. All four were boys, very young at diagnosis, and had rhabdomyosarcomas of the bladder or prostate. In addition, there were indications that a further nine children may have been affected. It is suggested that NF may be more common in children with soft tissue sarcoma than previously thought and that clinicians should be alert for signs and symptoms of NF in such children and their families. Affected children may be at increased risk of developing further malignancies.  相似文献   

19.
Hysterical conversion reactions mimicking neurological disease   总被引:1,自引:0,他引:1  
Seven children with illnesses diagnosed as hysterical conversion reactions (HCRs) were treated at our institution over a period of nine months. They all had neurological symptoms that included one or more of the following: paralysis, headache, seizures, and episodic blindness. All patients but one were misdiagnosed as having an organic disease prior to our final diagnosis. Five children were treated with medications for presumed organic illnesses. In all of these children a diagnosis of HCR was made on the basis of their history and neurological examination findings. They all recovered or began recovery within a few days of having HCR diagnosed, and none of them had had a relapse three to 11 months after the diagnosis of HCR was made. We believe, and there is ample evidence in the literature, that a positive diagnosis of HCR in childhood can be made when neurological manifestations cannot be explained on an anatomic and physiological basis. Although absence of an obvious organic cause is a helpful clue, exhaustive exclusion of all possible organic causes is not necessary for the diagnosis of HCR.  相似文献   

20.
AIM: To determine whether the amount of alphabeta-positive intraepithelial lymphocytes (IELs) is connected to allergy test positivity in children with gastrointestinal symptoms and whether elevated serum gliadin antibodies have any role in the diagnosis. METHODS: Twenty-seven children suffering from gastrointestinal-symptoms in whom intestinal biopsies had previously been obtained via endoscopy or with capsule biopsy to exclude coeliac disease were included into the study. The other inclusion criteria were increased amounts of CD3 and alphabeta-positive IELs with normal amounts of gammadelta-positive IELs in duodenal or jejunal biopsy specimens. At the control visit, the children underwent a physical examination and parents filled in a questionnaire concerning gastrointestinal- and atopic symptoms. Skin prick- and patch tests were done and serum gliadin, endomysium, transglutaminase antibodies and specific IgEs were measured. RESULTS: Only nine children (33%) had at least one positive result in the allergy tests, the rest remaining test negative. In children with digestive symptoms, IgG-class gliadin antibody titres were higher than those of the non-symptomatic children. A significant correlation was found between IgG-class gliadin antibodies and total amount of alphabeta-positive IELs (p = 0.017). CONCLUSION: No positive skin test or specific IgE positivity for cereals in children with high intestinal T-cell densities was observed. The correlation between IgG-class gliadin antibodies and the total amount of alphabeta-TCR positive-cells is likely to be a reflection of local immune response of the gut.  相似文献   

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