Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year-old Japanese boy

We investigated the clinical and biochemical characteristics of a 6-year-old Japanese boy with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. He had hypoketotic hypoglycaemia, exercise- and fasting-induced lethargy, hepatomegaly and cardiomegaly. Significant laboratory findings included elevated plasma levels of creatine phosphokinase and acyl-carnitine and a fatty liver at biopsy suggesting a diagnosis of VLCAD deficiency. Conclusion The diagnosis of very long-chain acyl-CoA dehydrogenase deficiency was supported by the results of acyl-CoA dehydrogenase activity for C₈ and C₁₆ fatty acids in skin fibroblasts from the patient. Treatment with medium chain triglycerides and l-carnitine in the diet improved his hepatomegaly and cardiomegaly. Received: 17 April 2000 / Accepted: 5 July 2000     

Œdème insulinique au cours d’une glycogénose hépatique

Introduction

Hepatic glycogenosis is a rare syndrome, which includes poorly controlled diabetes mellitus, hepatomegaly, delayed puberty, and growth delay. Insulin edema is sometimes associated.

母鼠人巨细胞病毒感染致胎鼠脑、肺和肝脏的损害

目的 探讨母鼠人巨细胞病毒(HCMV)感染对胎鼠脑、肺和肝脏的损害情况.方法 将30只10周龄健康昆明鼠按雌雄比1:1配对,分为感染组(20只)和对照组(10只),均雌雄各半.感染组雌鼠妊娠前3 d腹腔内接种1×106半数组织培养感染量病毒悬液0.5 ml,对照组雌鼠分别接种等量的人胚成纤维细胞培养上清液.然后交配受孕并于孕19 d剖宫取出胎鼠.感染组共获胎鼠15只;对照组获得健康胎鼠36只,随机抽取15只纳入本研究.检测胎鼠脑、肺、肝脏组织HC-MV DNA和病理改变并进行病毒分离.两组间计数资料比较用χ2检验.结果 感染组胎鼠病毒分离阳性率分别为:脑73.3%(11/15)、肝脏53.3%(8/15)、肺脏60.0%(9/15);对照组3种组织病毒分离阳性率均为0(P<0.05).感染组胎鼠HCMV DNA阳性率分别为:脑93.3%(14/15)、肝脏93.3%(14/15)、肺脏86.7%(13/15);对照组HCMV DNA阳性率均为0(P<0.05).病理检测结果显示感染组胎鼠的脑、肺、肝脏组织结构损伤严重,可见病毒颗粒.结论 母鼠HCMV感染可以发生垂直传播,导致子鼠脑、肺、肝脏等易感器官损伤.     

Ultrasonic determination of hepatomegaly

Retrospective evaluation of abdominal ultrasound examinations were made in 36 patients who came to autopsy within 1 month after the ultrasound study. Without knowledge of clinical or autopsy data, two observers made independent determinations of the midhepatic line measurement of the liver on the ultrasound study using supine and left lateral decubitus longitudinal scans. Autopsy determination of hepatomegaly was made using hepatic weight, patient's total body weight, and patient age correlated with pertinent clinical history. Results of the autopsy/ultrasound correlation demonstrated that those livers measuring 13.0 cm or less in the midhepatic line (both supine and left lateral decubitus positions) were normal in 93% of the cases. Similarly, it was demonstrated that when the liver measured 15.5 cm or greater, it was enlarged in 75% of the cases. Used together, these two criteria result in an 87% accuracy rate in determining the presence or absence of hepatomegaly. Approximately 25% of the cases in our study fell into the borderline category of 13.0–15.5 cm.     

Long-term liver disease in methylmalonic and propionic acidemias

Background and objectives

Patients affected with methylmalonic acidemia (MMA) and propionic acidemia (PA) exhibit diverse long-term complications and poor outcome. Liver disease is not a reported complication. The aim of this study was to characterize and extensively evaluate long-term liver involvement in MMA and PA patients.

酒中毒致精神障碍患者的肝脏超声检查分析

对50例长期饮酒后所致精神障碍患者的B超监测,了解其肝脏超声检查、诊断情况及经住院戒断治疗后的变化。结果,长期饮用高度白酒后形成慢性酒精中毒的患者,肝脏增大者占54％,而且其肝实质有不同程度的脂肪性变声象图。结论,病人经过住院戒酒治疗后,原异常超声声象图有改善,肿大的肝脏可逐渐恢复正常。     

Regression of hepatosplenomegaly in Kenyan school-aged children after praziquantel treatment and three years of greatly reduced exposure to Schistosoma mansoni

Evaluating regression of morbidity associated with parasitic infections is an important component of community-based control programmes. We performed an intervention against Schistosoma mansoni infection, focusing on hepatosplenomegaly in the absence of periportal fibrosis, in a cohort of 67 Kenyan children aged 7-18 years from Makueni District, selected on the basis of hepatosplenomegaly detected by ultrasonography. Clinical and ultrasound examinations were conducted annually for three years after treatment, and the source of infection (a river) was regularly treated with molluscicide, thereby severely reducing exposure to schistosomiasis. Malaria transmission was uninterrupted. The prevalence of hard spleens, and the magnitude of clinically assessed splenomegaly along the mid-axillary and mid-clavicular lines decreased monotonically over time, independently of age, whereas clinically measured hepatomegaly along the mid-sternal line and the prevalence of firm livers decreased in an age-specific manner, being more pronounced amongst children aged 14 years or older at enrolment. Ultrasound data were less informative, and did not concur with clinical observations. These results demonstrate that praziquantel treatment reduces hepatosplenomegaly in the absence of exposure to S. mansoni, even with continuing exposure to malaria. The lack of complete resolution of hepatosplenomegaly in most children suggests, among other things, a residual organomegaly attributable to malaria.     

Abdominal expansion using a polytetrafluoroethylene prosthesis in the treatment of Pepper syndrome

The authors report three cases of stage IV-S neuroblastoma in infants aged 4, 6, and 8 weeks, who despite chemo- and radiotherapy required surgical intervention to urgently relieve major thoracoabdominal compression secondary to massive hepatomegaly. The results were successful, with abdominal expansion being achieved by the introduction of a polytetrafluoroethylene prosthesis, which was removed during the 2nd, 3rd and 7th postoperative month, respectively, after tumor regression. Two children were in complete remission 32 and 38 months later, the 3rd died after 16 months of tumor progression. Accepted: 23 February 1999     

Hepatic Involvement in Dengue Fever in Children

Objective

Hepatic dysfunction is common in dengue infection and the degree of liver dysfunction in children varies from mild injury with elevation of transaminases to severe injury with jaundice. This study was undertaken to assess the spectrum of hepatic involvement in dengue infection.

Methods

110 children with serologically positive dengue fever aged between 2 months - 14 years were studied for their hepatic functions both clinically and biochemically after excluding malaria, enteric fever, Hepatitis A and Hepatitis B with relevant investigations.

Findings

All cases were grouped into DF (Dengue fever), DHF (Dengue hemorrhagic fever) and DSS (Dengue shock syndrome) according to WHO criteria. The spectrum of hepatic manifestations included hepatomegaly (79%), hepatic tenderness (56%), jaundice (4.5%), raised levels of aspartate transaminase (AST)(93%), alanine transaminase (ALT)(78%), alkaline phosphatase (AP) (57%), prolonged prothrombin time (PT) (20%), reduced levels of serum albumin (66%) and abnormal abdomen ultrasound (65%).

Conclusion

Hepatic dysfunction was observed more in DHF and DSS group compared to DF group. About 17.27% of children had >10 fold increase in the liver enzymes. There was no correlation between the degree of hepatic enlargement or hepatic tenderness with the abnormalities of liver functions. Any child with fever, jaundice and tender hepatomegaly in geographical areas where dengue is endemic, the diagnosis of dengue infection should be strongly considered.