Diffuse neonatal haemangiomatosis: Successful management with high dose corticosteroids

We report two cases of diffuse neonatal haemangiomatosis. The multiple cutaneous lesions were associated with massive hepatic involvement and congestive heart failure in one, while in the other laryngeal haemangiomas caused stridor and inspiratory distress. A significant regression in vascular lesions was achieved with high dose corticosteroid therapy.     

Diffuse neonatal haemangiomatosis with intra-uterine haemorrhage and hydrops fetalis: a case reporte

A case of diffuse neonatal haemangiomatosis involving the skin, liver, lungs, adrenals, gums, diaphragm, skull, and testes is reported. Intra-uterine onset of bleeding led to bloody amniotic fluid, severe anaemia, congestive heart failure, and hydrops fetalis. Intractable coagulopathy and renal failure resulted in persistent bleeding, anuria, metabolic acidosis, and hyperkalaemia, leading to a fatal outcome.     

Diffuse neonatal haemangiomatosis

A newborn girl with severe diffuse neonatal haemangiomatosis is described. She was treated with high dose systemic corticosteroids and high dose interferon-alpha-2a, but with fatal outcome. A review of the current literature is presented.     

Selective screening for neonatal galactosemia: an alternative approach

No universal consensus exists for population-based neonatal screening for galactosemia. In our institution, selective screening for classical galactosemia is carried out on infants under 2 wk of age and those with symptoms suggestive of this disorder. Eighteen cases were diagnosed from 25,099 tests done; 17 were symptomatic at the time of diagnosis. CONCLUSION: We suggest that improved clinical vigilance and selective screening would identify most infants with severe galactosemia as early as a population-based program.     

Anaemia, thrombocytopenia and coagulopathy due to occult diffuse infantile haemangiomatosis of spleen and pancreas

Diffuse infantile haemangiomatosis of the spleen is a very rare lesion. Large haemangiomas may cause trapping of platelets and coagulation disorders known as Kasabach-Merrit syndrome. We here report the case of an infant with splenic and pancreatic haemangiomatosis presenting with life-threatening thrombocytopenia, anaemia and intravascular coagulation. Diagnosis was hampered by reactive erythroblastosis and non-conclusive radiological findings. While treatment with corticosteroids was ineffective, administration of antithrombin III improved coagulation parameters. After splenectomy the child recovered promptly and has remained free of disease for 3 years to date. Conclusion Occult visceral haemangiomatosis without visible cutaneous haemangiomas should be included in the differential diagnosis of thrombocytopenia, anaemia and consumption coagulopathy. Antithrombin III treatment may be considered to overcome bleeding problems in patients with Kasabach-Merrit syndrome. Received: 8 July 1998 / Accepted in revised form: 21 September 1998     

Diffuse neonatal haemangiomatosis: new views on diagnostic criteria and prognosis

Diffuse neonatal haemangiomatosis (DNH) is a rare and life-threatening congenital disorder. An extensive retrospective analysis of the literature was performed to evaluate the clinical features, therapies and prognostic factors of DNH. Reports on 68 patients with DNH were obtained. The skin, liver, lungs, brain and intestine were the organs most commonly involved. Congestive heart failure (CHF) was the primary cause of death. The mortality rate was 77.4% in untreated patients and 27% in treated patients. CHF, Kasabach-Merritt syndrome (KMS) and the involvement of five or more organs were important risk factors in DNH. The measurement of cardiac output might give more insight into the potential prognostic value of total blood-volume loss through shunting in the haemangiomas. Reports on 64 patients with neonatal haemangiomatosis limited to only the skin and liver were also obtained. The clinical features and outcome of patients with only cutaneous and hepatic haemangiomas were similar to those of patients with DNH. The inclusion criteria for DNH should be expanded to include similar patients with only cutaneous and hepatic haemangiomas.     

Recurrent pneumonia caused by diffuse oesophageal spasm

A 14-month-old severely retarded girl with a history of regurgitation, aspiration, and recurrent pneumonia was found to suffer from diffuse oesophageal spasm. This diagnosis was made by oesophageal cine-radiography. This case suggests that diffuse oesophageal spasm is an oesophageal motility disorder that causes respiratory disease in the retarded child.     

霉酚酸酯与间断性环磷酰胺静脉冲击疗法治疗弥漫增生型狼疮性肾炎的Meta分析

目的 评价霉酚酸酯(MMF)与间断性环磷酰胺(CTX)静脉冲击疗法治疗弥漫增生型狼疮性肾炎(DPLN)的有效性和安全性.方法 检索PubMed、MEDLINE和中国期刊网等数据库,收集MMF与间断性CTX静脉冲击疗法治疗DPLN的随机对照试验14篇.使用RevMan 5.0软件分析评价临床总缓解率、复发率、病死率、疱疹的情况.结果 患者临床总缓解率,MMF较间断性CTX静脉冲击疗法高(P＜0.05).而复发率、病死率、疱疹情况,差异无统计学意义(P＞0.05).结论 MMF治疗DPLN的有效性和安全性较间断性CTX静脉冲击疗法为优.     

28例儿童肺部弥漫性疾病的病因和诊断分析

目的 探讨儿童肺部弥漫性疾病的病因和诊断思路。方法 回顾性分析28例肺部弥漫性疾病患儿的诊断以及确诊过程。结果 确定病因25例,包括支原体肺炎1例、沙眼衣原体肺炎2例、巨细胞病毒肺炎2例、EB病毒肺炎1例、血型播散性肺结核3例、金黄色葡萄球菌败血症性肺炎1例、肺隐球菌病1例、侵袭性肺曲霉菌病2例、广泛支气管扩张合并肺部感染2例、特发性肺含铁血黄素沉着症1例、特发性肺纤维化1例、HIV合并淋巴细胞间质性肺炎1例、鸽粪引起的外源性变应性肺泡炎1例、韦格内肉芽肿1例、郎格罕细胞组织细胞增生症2例、恶性淋巴瘤3例。疑似诊断3例,包括奴卡菌感染1例、少年类风湿性关节炎合并肺纤维化1例、HIV合并卡氏肺囊虫1例。18患儿经X线检查、病史和体格检查以及其他非创伤性检查诊断,8例经皮肤活检或肺活检诊断,2例由尸解确诊。结论 儿童肺部弥漫性疾病的病因包括肺部感染性疾病、特发性疾病和全身疾病的肺部表现。影像学表现、病史和体格检查以及其他非创伤性检查能确定多数患儿的病因,少数病例需经创伤性检查诊断。     

ANCA-associated diffuse alveolar hemorrhage due to benzylthiouracil

Benzylthiouracil has been recently observed to be associated with antineutrophil cytoplasmic antibody-positive vasculitis, resulting in crescentic glomerulonephritis. We report an 8-year-old girl treated with benzylthiouracil for Graves’s disease who developed an ANCA-positive vasculitis with pulmonary hemorrhage. She responded to corticosteroids and discontinuation of benzylthiouracil. This represents the first pediatric case of benzylthiouracil-induced diffuse alveolar hemorrhage.     

Magnetic resonance imaging: an alternative to autopsy in neonatal death?

Magnetic resonance imaging (MRI) represents a non-invasive alternative to full autopsy in neonatal death if parents refuse classical full autopsy. MRI offers high resolution images of the entire neonate without disrupting the integrity of the child. Neonatal malformations or pathologies that are responsible for the death of the neonate can be identified. A major disadvantage of MR-autopsy is the lack of tissue sampling. Chromosomal, histological or microbiological analyses are consequently missing. MR-autopsy has proven to be especially helpful in the evaluation of the central nervous system but is limited in complex cardiac malformations. The limitations and possibilities of MR-autopsy are discussed.     

磁共振弥散张量成像在早产儿脑白质发育及脑损伤中的应用

脑白质损伤及发育异常是导致早产儿在儿童期及青春期出现神经发育障碍的主要原因.弥散张量成像利用水分子弥散技术,可以研究早产儿脑白质成熟发育的特征,并进一步揭示早产儿脑损伤的类型及发病机制.     

A rare association between group A Streptococcus purpura fulminans and diffuse alveolar hemorrhage in a young girl: A case report

We report the case of a 7-year-old girl with septic shock and coagulopathy associated with purpura fulminans (PF) and diffuse alveolar hemorrhage (DAH) due to group A Streptococcus (GAS) infection identified with 16S ribosomal RNA analysis performed on the skin biopsy. GAS infection with PF associated with DAH is rare in healthy young children but pediatricians should be aware of this condition because of the poor prognosis. The initial treatment for circulatory failure and severe disseminated intravascular coagulation as well as the prompt initiation of antibiotic treatment may be crucial for the outcomes of S. pyogenes PF.     

Two infants with life-threatening diffuse neonatal hemangiomatosis treated with cyclophosphamide

Diffuse neonatal hemangiomatosis (DNH) is a rare, frequently fatal disorder characterized by multiple cutaneous and visceral hemangiomas. Complications include high-output cardiac failure, hemorrhage, hepatic failure, and consumption coagulopathy. We present two cases of neonates with DNH. We prescribed cyclophosphamide after failure of corticosteroids. Cyclophosphamide induced a fast regression of the lesions with no side effects in both infants. We were able to stop treatment after 3-4 courses of cyclophosphamide in both infants because of the excellent response. Cyclophosphamide seems to be a safe and effective treatment in patients suffering from life-threatening DNH unresponsive to corticosteroids.     

儿童弥漫性轴索损伤的临床特征及治疗(附26例报告)

目的探讨儿童弥漫性轴索损伤(Diffuse axonal injury,DAI)的发病机制、临床特征及治疗方法。方法回顾性分析本院于2008年7月至2014年1月收治的26例儿童弥漫性轴索损伤病例的临床诊疗经过,并随访其预后。结果 26例中,死亡3例,植物生存1例,5例出现不同程度后遗症,基本痊愈17例。结论儿童弥漫性轴索损伤受伤原因与成人不同,以高坠伤多见,病死率及致残率较成人低,早期诊断、积极治疗预后良好。     

长春地辛和长春新碱治疗儿童急性淋巴细胞白血病比较

目的回顾性分析比较长春碱类抗肿瘤药物长春地辛(VDS)与长春新碱(VCR)治疗儿童初发急性淋巴细胞白血病(ALL)的疗效、不良反应及成本效益。方法 105名初诊ALL患儿加入CCLG-2008化疗方案组(VDS组48人、VCR组57人),于诱导期及强化期接受VDS 3 mg/m~2或VCR 1.5 mg/m~2,每周1次的治疗。结果 VDS与VCR两组完全缓解率分别为91.7%和94.7%(P=0.53),5年总生存率(OS)分别为91.7%±3.9%和87.7%46.9(P=0.603),无事件生存率(EFS)79.2%±4.0%和78.9%±3.4%(P=0.799),两组差异均无显著性。持续缓解期间治疗相关死亡率(TRM)VDS组较VCR组低(2.2%vs 14.2%,P=0.04)。共199人次在治疗中出现不良反应,其中VDS组113人次、VCR组86人次。VDS组外周神经毒性、贫血及血小板减少发生率均低于VCR组,且Ⅲ级及以上贫血、血小板减少发生率较VCR组均更低(P值均0.05)。另外,VCR组中2名患儿出现严重感觉异常及运动障碍,换用VDS后症状消失。VDS组平均住院费用亦低于VCR组(25,996元/人vs 34,244元/人,P=0.002)。结论 VDS与VCR治疗儿童ALL的近期和远期疗效相当,但VDS较VCR不良反应发生率低,持续缓解期TRM低,且能减少住院成本,值得临床推广研究。