Postoperative fulminant varicella zoster virus hepatitis with fatal outcome: a case report

INTRODUCTION: Fulminant hepatitis due to varicella zoster virus (VZV) infection has a poor prognosis although an effective treatment is available. CASE REPORT: We present a case of fulminant hepatic failure (FHF) as a result of disseminated VZV infection in a long-term alcoholic patient who underwent laryngectomy and radical neck dissection due to squamous cell carcinoma of the larynx. Post-mortem examination revealed the diagnosis of fulminant hepatitis and infection with VZV. Viral inclusion bodies were found in the hypopharyngeal mucosa as well as in the liver tissue. In these tissues VZV was detected by PCR. The clinical presentation is suggestive for a reactivation of VZV without cutaneous signs of herpes zoster during a state of immunosuppression. DISCUSSION: Differential diagnosis comprises hepatitis by other Herpes group viruses and toxic hepatic injury.     

Familial AMP deaminase deficiency with skeletal muscle type I atrophy and fatal cardiomyopathy

Muscular AMP deaminase deficiency was found in two sibs suffering from a skeletal myopathy, characterized by type I fibre atrophy and a dilated cardiomyopathy. The family history suggests an autosomal dominant inheritance of this disorder.     

Late-onset presentation of ornithine transcarbamylase deficiency in a young woman with hyperammonemic coma

Ornithine transcarbamylase deficiency (OTCD) is an X-linked inherited disease and the most common inborn error in urea synthesis in human patients. In adult heterozygous patients, OTCD can be responsible for life-threatening hyperammonemic coma. We report the case of a 32-year-old woman admitted to our hospital with seizures after a recent high protein load. Her parents related a history of recurrent episodes of vomiting, meat refusal, lethargy, and convulsions since childhood, and measurement of plasma ammonemia levels was the key to early diagnosis of OTCD. We report the pathophysiologic characteristics, clinical features, clinical course, and differential diagnosis of OTCD and discuss the therapeutic options, including continuous venovenous hemodiafiltration and pharmacologic therapy for reduction of plasma ammonemia levels. A diagnosis of OTCD should be considered in adult nonhepatic patients with hyperammonemic coma, particularly if they have a history of protein avoidance and neurologic symptoms. Early recognition and appropriate treatment are critical to avoid severe brain damage and death.     

Emphysema of early onset associated with a complete deficiency of alpha-1-antitrypsin (null homozygotes)

We have compared lung function in 3 subjects with no alpha 1-antitrypsin (alpha 1-protease inhibitor) (null homozygotes) with subjects having the typical deficiency, PIZZ. We identified a 31-yr-old woman, presenting with severe obstructive lung disease, who had no detectable plasma alpha 1-antitrypsin, indicating homozygosity for a "null" (or PI*QO) allele of alpha 1-antitrypsin. Two of her sisters have a similar deficiency, one with an onset of symptoms at 17 yr of age. Because of the likelihood that there are a number of different PI*QO alleles, the type in this family has been named null Mattawa (QOmattawa). All 3 homozygotes have shown a marked deterioration of lung function over a 7-yr period of follow-up. In contrast, lung function tests of 6 age-matched nonsmoking subjects with alpha 1-antitrypsin deficiency, PI type ZZ, showed no abnormalities of lung function. The 15 to 20% of the normal plasma concentration of alpha 1-antitrypsin associated with the PI*Z allele appears to provide some protection to the lung in comparison with a complete deficiency state.     

暴发性肝功能衰竭预后高危因素的分析

探讨暴发性肝功能衰竭(FHF)预后不良的高危因素.回顾了53例不同预后的FHF患者的年龄、病原学、并发症和实验室检查指标与预后的关系.年龄小则预后较好.并发症与病情危险相关因素由高到低依次为:肝肾综合征＞出血＞感染＞腹水.血清AST/ALT、TBil/DBil、TBA、Tch水平比较可见:前三项死亡组高于存活组,Tch则为存活组高于死亡组.PTA＜40%、APTT＞45s的患者存活率相对较低.年龄、并发症情况、肝功能和凝血象指标是反映FHF患者预后的重要因素.     

伴有血栓性血小板减少性紫癜特征的感染性弥散性血管内凝血

目的:诊断一种伴有血栓性血小板减少性紫癜(TTP)特征的感染性弥散性血管内凝血(DIC),确定其临床与实验室检查的特点。方法:观察患者的临床经过,常规方法做血液生化与凝血检测以及血液细菌培养,用残余胶原结合实验测定血浆ADAMTS13活性及其抑制物。结果:患者有严重感染/败血症,临床呈暴发性经过,且有多器官功能衰竭。实验室检测显示消耗性凝血障碍,ADAMTS13活性明显降低,并存在ADAMTS13抑制物。结论:感染性DIC伴有TTP特征可能是一种新的综合征,临床呈暴发性经过,多器官功能衰竭是其死亡的主要原因。     

Alpha 1-antitrypsin deficiency (Siiyama) with pulmonary emphysema]

A 44-year-old man was admitted to the hospital with dyspnea on exertion. Chest radiographs and pulmonary function tests showed evidence of pulmonary emphysema. Serum alpha 1-antitrypsin (alpha 1-AT) could not be detected by nephelometry, immuno-electrophoresis, or iso-electric focusing. However, allele-specific PCR revealed a genotype homozygotic for an alpha 1-AT deficient variant of the Siiyama allele. An elder sister of the proband was also a homozygous carrier of the Siiyama allele. The amino acid sequence for normal alpha 1-AT variants had been substituted by Arg101-Val213-Glu376 in the proband, demonstrating that the alpha 1-antitrypsin-deficient Siiyama variant in this pedigree was derived from M 1 (Val213).     

Pulmonary thromboembolism associated with familial protein C deficiency type I]

A 66-year-old man was admitted to our hospital because of progressive dyspnea on effort. Arterial blood gas analysis showed severe hypoxemia, and a chest radiograph revealed reticular shadows in both lower lungs and an increase of the cardiothoracic ratio. Echocardiography demonstrated mild indentation of the interventricular septum toward the left ventricle, moderate pericardial effusion and pulmonary hypertension. From these data, we diagnosed pulmonary thromboembolism and started anticoagulation therapy. After the addition of the administration of warfarin and oxygen therapy, his symptoms disappeared. However, we could not obtain more supporting evidence of thromboembolization by methods of ventilation-perfusion scanning, digital subtraction angiography of the pulmonary artery, or venography. Blood coagulation analysis demonstrated that the patient's plasma protein C antigen levels and its activity were depleted. The patient's son had a history of thrombophlebitis and pulmonary embolization, and his data of protein C antigen levels was also decreased. Therefore, this patient was found to have a character of familial protein C deficiency type I. We could not get the conclusive proof of pulmonary thromboembolism, but we considered that the presence of familial protein C deficiency may cause exacerbation of pulmonary hypertension.     

缺碘性轻度低智—碘缺乏病中的一个类型

对碘缺乏病（ＩＤＤ）地区的非地方性克汀病儿童，进行Ｘ线骨龄判断，血清Ｔ３、Ｔ４、ＴＳＨ测定、智力测验、听力测定、脑电图及脑诱发电位检查。结果显示：１．病区碘盐防治后出生儿童的亚临床甲状腺功能低下和神经系统轻度功能损害的百分比都高于非病区对照组儿童；２．在病区轻度低智儿童２４人中检出地方性亚临床克汀病（亚克汀）１８人（７５％），另６名轻度低智儿童（２５％）可能归属为缺碘性轻度低智。     

Late-onset Pneumocystis jirovecii pneumonia (PJP) in patients with ANCA-associated vasculitis

Clinical Rheumatology - Immunosuppression in anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is complicated by increasing risk of infections including opportunistic...     

Congenital dyserythropoietic anaemia type II associated with a new type of G6PD deficiency (G6PD Gabrovizza)

A 6-year-old boy with chronic haemolytic anaemia was found to have glucose 6-phosphate dehydrogenase (G6PD) deficiency and the morphological, ultrastructural and serological features of congenital dyserythropoietic anaemia (CDA) type II. The patient's mother was heterozygous for G6PD deficiency. G6PD from the patient's red cells, upon partial purification and full characterization, was found to be a new variant designated G6PD Gabrovizza. We conclude that two distinct genetic abnormalities coexisted in this patient. We suggest that CDA type II may become clinically more expressed when another abnormality of the erythrocytes coexists.     

Recurrent pulmonary infarction associated with familial protein S deficiency type III]

A 38-year-old woman was admitted to our hospital because of recurrent chest pain and fever. Chest X-ray films and computed tomograms showed subpleural consolidation containing small cavity-like opacities. Open lung biopsy revealed non-infectious abscess and vessels with organizing thrombus. The patient was given a diagnosis of pulmonary infarction due to the existence of deep venous thrombosis. Coagulation studies demonstrated that she had decreased plasma protein S activity, whereas her free and total protein S antigen levels were normal. Because her mother and maternal uncle and aunt also demonstrated decreased protein S activity with normal plasma protein S antigen levels, the patient was considered to be affected by familial protein S deficiency type III.