Peliosis hepatis presenting with massive hepatomegaly in a patient with idiopathic thrombocytopenic purpura

Peliosis hepatis is a rare condition that can cause hepatic hemorrhage, rupture, and ultimately liver failure. Several authors have reported that peliosis hepatis develops in association with chronic wasting disease or prolonged use of anabolic steroids or oral contraceptives. In this report we describe a case in which discontinuation of steroid therapy improved the condition of a patient with peliosis hepatis. Our patient was a 64-year-old woman with a history of long-term steroid treatment for idiopathic thrombocytopenic purpura . Her symptoms included abdominal pain and weight loss; the only finding of a physical examination was hepatomegaly. We performed computed tomography (CT) and magnetic resonance imaging (MRI) of the liver and a liver biopsy. Based on these findings plus clinical observations, she was diagnosed with peliosis hepatis and her steroid treatment was terminated. The patient recovered completely 3 months after steroid discontinuation, and remained stable over the following 6 months.     

Pompe's disease in childhood: A metabolic myopathy

Background: Myopathy of metabolic origin in childhood occurs due to a variety of conditions. Pompe's Disease also known as Glycogen storage disease Type II, is a rare storage disorder with clinical presentation akin to spinal muscular atrophy.     

Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology

A study of 11 autopsied cases of the cerebro-hepato-renal syndrome of Zellweger (ZS) is reported. All cases had severe, peristent congenital hypotonia, hepatic lobular disarray, renal cortical cysts and pulmonary hypoplasia. Many had cardiovascular malformations, hepatomegaly, cerebral cortical gyral maldevelopment and pancreatic islet hyperplasia. Additional, less frequent findings are delineated. Results of iron content studies of hepatic and renal tissues are related to age of survival and possible development of fibrosis.Supported in part by American Cancer Society Junior Faculty Clinical Fellowship 237A and USPH/NIH Grants GM 20130, GM 15422 and 5 K04 HD 18982. Submitted in part as Paper No. 1881 from the University of Wisconsin Genetics Laboratory.     

Determination of a hepatic volumetric index by ultrasonic scanning

Summary A prospective study was carried out to calculate, by a fast and simple ultrasonic method, the size of the liver. Seventy-five normal subjects, 38 men and 37 women, average age 51±17 years (range 19–85) were studied. The three main diameters of the liver, breadth, thickness, and height, were obtained using a compound scan technique; each diameter was measured at its largest dimension. These measurements were multiplied together and the product arbitrarily divided by 27, which is the cube of the three diameters. This yielded the hepatic volumetric index (HVI), which was between 95 and 140 in 95% of normal subjects below 65 years of age and ranged from 80 to 135 in those above 65 years. These last data proved to be in accordance with the well-known involution of liver size in the elderly and with our retrospective study on 207 normal subjects. Then, using the criteria previously proposed by us, the population studied in the prospective study was divided into three groups of morphotypes: endomorphs, ectomorphs, and mesomorphs. The ectomorphs had an HVI slightly lower than that of the endomorphs. This HVI determination, based on standardized measurements and on a statistically controlled method, allows us to separate normal from pathological livers in 10 min and plays an important part in day-to-day clinical practice.     

Unexplained anaemia and failure to thrive as initial symptoms of infantile choriocarcinoma: a review

Infantile choriocarcinoma is a highly malignant germ cell tumour sub-entity thought to originate from the placenta. The aim of this review is to alert clinicians to clinical symptoms and course of neonatal/infantile choriocarcinoma in order to improve the prognosis of affected children by early diagnosis and appropriate treatment. The clinical details of all 30 cases according to a Medline literature search including two cases documented in the MAKEI germ cell tumour study are analysed. Children suffering from infantile choriocarcinoma become symptomatic at a median age of 1 month (range 0 days–5 months). Typical early symptoms with decreasing incidence are anaemia, failure to thrive, hepatomegaly, haemoptysis or respiratory failure, there may be signs of precocious puberty. The tumour affected more than one organ in most cases; organs involved were liver (23/30 cases, 77%), lung (20/30, 67%), brain (8/30, 27%), or skin (3/30, 10%). The natural disease course is rapidly fatal. Without appropriate anti-neoplastic treatment, infantile death occurs on average within 3 weeks from first presentation with a high rate of post-mortem diagnoses (9/28, 32% of live born infants). In recent years, five reported patients (5/30, 18%) achieved a sustained remission after multi-agent cisplatinum-based chemotherapy and delayed (4/5) or primary tumour resection (1/5). -Human chorionic gonadotropin was universally elevated in 19/19 tested infants. Maternal choriocarcinoma was reported in 17 of the 30 cases. Conclusion: the differential diagnosis of infantile anaemia, failure to thrive and liver enlargement should include infantile choriocarcinoma and prompt measurement of -human chorionic gonadotropin.Abbreviation HCG human chorionic gonadotropin     

Glycogen storage diseases

Summary The pathways of glycogen synthesis and degradation have been reviewed in relation to the glycogen storage diseases. Six types of glycogen storage diseases have been classified on the basis of the enzymatic defect which is present. The clinical features, physical findings and laboratory abnormalities present in each type have been discussed and related to the consequences of the enzymatic defect. The mode of inheritance of the various types of glycogen storage disease has been outlined.

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Zusammenfassung Es wurden die Wege der Synthese und Degradation des Glykogens in Bezug auf die Glykogenosen eroertert. Auf der Grundlage des bestehenden Enzymdefektes wurden 6 Glykogenose-Typen klassifiziert. Die klinischen Eigenschaften, die physischen Befunde sowie die Abnormitaeten der Labordaten wurden diskutiert und mit den Konsequenzen des Enzymdefektes in Verbindung gesetzt. Schliesslich wurde der Hereditaets-Mechanismus der verschiedenen Glykogenose-Typen umrissen.

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Resumen Se reseñaron las vías de la síntesis y degradación del glucógeno en relación con las glicogenolisis. Han sido clasificadas seis tipos de glicogenosis en relación al defecto enzimático presente. Han sido discutidas y puestas en relación con las consecuencias del defecto enzimático, las características clínicas, los hallazgos físicos y las anormalidades de los datos de laboratorio. Ha sido subrayado el mecanismo de la herencia en los varios tipos de glicogenosis.

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Resume Les voies de la synthèse et de la dégradation du glycogène en relation avec les glycogénoses ont été passées en revue. Six types de glycogénose ont été classés sur la base du défaut enzymatique présent. Les caractéristiques cliniques, les observations physiques et les anomalies des données de laboratoire ont été discutées et mises en relation avec les conséquences du défaut enzymatique. On a tracé le mécanisme de l'hérédité des différents types de glycogénose.

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Riassunto Sono state passate in rassegna le vie della sintesi e della degradazione del glicogeno in relazione con le glicogenosi. Sei tipi di glicogenosi sono stati classificati sulla base del difetto enzimatico presente. Sono stati discussi e messi in relazione con le conseguenze del difetto enzimatico le caratteristiche cliniche, i reperti fisici e le anormalità dei dati di laboratorio. E' stato delineato il meccanismo dell'eredità dei vari tipi di glicogenosi.

     

The Clinical Spectrum of Hepatic Manifestations in Chronic Lymphocytic Leukemia

Chronic lymphocytic leukemia (CLL) is the most common leukemia in the Western world, characterized by the presence of long-lived circulating leukemic cells in the peripheral blood that may infiltrate all organs, particularly those of the reticulo-endothelial system. Liver enlargement and elevation of liver enzymes related to specific involvement by the underlying disease are well-recognized features in these patients. In CLL, the differential diagnosis of liver disorders is broad and includes liver infiltration by leukemic cells, immunologic manifestations associated with CLL, primary and secondary hepatic malignancies, drug-induced hepatotoxicity, infections, and Richter transformation. The above conditions can cause serious and even fatal complications such as acute liver failure. The aim of this study was to summarize all available published literature on hepatic manifestations encountered in CLL. This review contains sections on liver enlargement because of leukemic infiltration, autoimmune-induced hepatic dysfunction, acute liver failure, drug-induced liver toxicity, and associated malignancies. A high index of clinical suspicion and appropriate diagnostic evaluation, including liver biopsy in special circumstances, are important for both accurate diagnosis and deciding on the most appropriate treatment to prevent the development of fatal complications of acute liver failure.     

药物性胆管消失综合征2例

临床约10%的急性肝炎由药物性肝损伤(DILI)所引起。而药物或其代谢产物以胆管上皮为损伤靶点可诱发胆管消失综合征(VBDS)。VBDS在临床诊疗中时常被忽视或与其他胆管性疾病相混淆。因此,需要临床医生予以重视并加以鉴别。现报告2例VBDS典型病例。     

Case of autoimmune hepatitis with markedly enlarged hepatoduodenal ligament lymph nodes

Autoimmune hepatitis(AIH) is a necroinflammatory liver disease of unknown etiology.The disease is characterized histologically by interface hepatitis,biochemically by increased aspartate aminotransferase and alanine aminotransferase levels,and serologically by increased autoantibodies and immunoglobulin G levels.Here we discuss AIH in a previously healthy 37-year-old male with highly elevated serum levels of soluble interleukin-2 receptor and markedly enlarged hepatoduodenal ligament lymph nodes(HLLNs,diameter,50 mm).Based on these observations,the differential diagnoses were AIH,lymphoma,or Castleman’s disease.Liver biopsy revealed the features of interface hepatitis without bridging fibrosis along with plasma cell infiltration which is the typical characteristics of acute AIH.Lymph node biopsy revealed lymphoid follicles with inflammatory lymphocytic infiltration;immunohistochemical examination excluded the presence of lymphoma cells.Thereafter,he was administered corticosteroid therapy:after 2 mo,the enlarged liver reached an almost normal size and the enlarged HLLNs reduced in size.We could not find AIH cases with such enlarged lymph nodes(diameter,50 mm) in our literature review.Hence,we speculate that markedly enlarged lymph nodes observed in our patient may be caused by a highly activated,humoral immune response in AIH.     

Multiple voxel 1H MR spectroscopy of phosphorylase-b kinase deficient patients (GSD IXa) showing an accumulation of fat in the liver that resolves with aging

BACKGROUND/AIMS: Phosphorylase-b deficient patients suffer from glycogen storage disease (GSD IXa) leading to liver enlargement which usually resolves during puberty and adolescence. This pathology has not yet been documented by (1)H MR spectroscopy (MRS) investigation. METHODS: MRS of eight GSD IXa patients was performed in this study to assess whether or not liver fat content is elevated in GSD IXa and decreases with aging. An improvement in our MRS method compared with previous liver fat MRS studies is that we measured a plane of liver voxels at once rather than a single MRS voxel, yielding a reliable determination of liver fat content. RESULTS: Fat contents of 3.4-10% were observed in young GSD IXa patients, as compared with 0.5-0.9% in controls, these dropped to control levels in patients past age 40 (r = -0.82; P < 0.01). CONCLUSIONS: Liver fat content is increased in glycogen storage disease (GSD IXa) and normalizes with ageing. Assessing liver fat levels in this population is a novel and interesting concept. This could potentially enhance the understanding of liver function in that 20% of the population who has increased liver fat.