Systemic amyloidosis results from the deposition of insoluble, fibrous amyloid proteins. It occurs mainly in the extracellular spaces of multiple organs and tissues including the kidney, heart, and liver. Although amyloid deposition in the liver is common in patients with systemic amyloidosis, clinically apparent liver disease is relatively rare. Indeed, most patients with systemic amyloidosis manifest only minimal to moderate hepatomegaly and trivial abnormalities in liver function tests. Recently, we experienced two cases of patients who presented with abnormalities in liver function tests and hepatomegaly as manifestations of systemic amyloidosis. We report these cases with a review of the relevant literatures.
Adult ; Amyloidosis/complications/*pathology ; Female ; Hepatomegaly/complications/*diagnosis/pathology ; Humans ; *Liver Function Tests ; Male ; Middle Aged

We herein report the case of a 14-year-old girl with Epstein-Barr virus (EBV) infectious mononucleosis who developed prolonged hepatitis and jaundice. At presentation, she had tender hepatomegaly with a markedly deranged liver function test. Abdominal ultrasonography showed hepatomegaly and a thickened gallbladder wall. During the subsequent 11 weeks, her transaminases showed two further peaks, which corresponded with clinical deterioration. Her highest alanine transaminase level was 1,795 µ/L and total bilirubin level was 154 µmol/L. She recovered fully with conservative management. EBV-related liver involvement is typically mild and self-limiting. We believe that tender hepatomegaly and gallbladder thickening may be important predictors of significant liver involvement. Although multiple transaminase peaks may occur, we do not consider this an indication for antiviral or immunosuppressive therapy. In the absence of strong evidence supporting the use of any specific therapy, we recommend a conservative approach for an immunocompetent patient.
Adolescent ; Alanine Transaminase ; blood ; Antiviral Agents ; therapeutic use ; Bilirubin ; blood ; China ; Epstein-Barr Virus Infections ; complications ; Female ; Gallbladder ; pathology ; Hepatitis ; complications ; Hepatomegaly ; complications ; Humans ; Immunosuppressive Agents ; therapeutic use ; Jaundice ; complications ; Liver ; diagnostic imaging ; Treatment Outcome ; Ultrasonography ; gamma-Glutamyltransferase ; blood

Objective: To analyze the clinical features,treatment and prognosis of drug induced hypersensitivity syndrome related hemophagocytic lymphohistiocytosis (DIHS-HLH). Methods: This was a retrospective case study. Clinical characteristics, laboratory results, treatment and prognosis of 9 patients diagnosed with DIHS-HLH in Beijing Children's hospital between January 2020 and December 2022 were summarized. Kaplan-Meier survival analysis was used to calculate the overall survival rate. Results: Among all 9 cases, there were 6 males and 3 females, with the age ranged from 0.8 to 3.1 years. All patients had fever, rash, hepatomegaly and multiple lymph node enlargement. Other manifestations included splenomegaly (4 cases), pulmonary imaging abnormalities (6 cases), central nervous system symptoms (3 cases), and watery diarrhea (3 cases). Most patients showed high levels of soluble-CD25 (8 cases), hepatic dysfunction (7 cases) and hyperferritinemia (7 cases). Other laboratory abnormalities included hemophagocytosis in bone marrow (5 cases), hypofibrinogenemia (3 cases) and hypertriglyceridemia (2 cases). Ascending levels of interleukin (IL) 5, IL-8 and interferon-γ (IFN-γ) were detected in more than 6 patients. All patients received high dose intravenous immunoglobulin, corticosteroid and ruxolitinib, among which 4 patients were also treated with high dose methylprednisolone, 2 patients with etoposide and 2 patients with cyclosporin A. After following up for 0.2-38.6 months, 7 patients survived, and the 1-year overall survival rate was (78±14)%. Two patients who had no response to high dose immunoglobulin, methylprednisolone 2 mg/(kg·d) and ruxolitinib died. Watery diarrhea, increased levels of IL-5 and IL-8 and decreased IgM were more frequently in patients who did not survive. Conclusions: For children with fever, rash and a suspicious medication history, when complicated with hepatomegaly, impaired liver function and high levels of IL-5 and IL-8, DIHS-HLH should be considered. Once diagnosed with DIHS-HLH, suspicious drugs should be stopped immediately, and high dose intravenous immunoglobulin, corticosteroid and ruxolitinib could be used to control disease.
Child ; Male ; Female ; Humans ; Infant ; Child, Preschool ; Lymphohistiocytosis, Hemophagocytic/complications* ; Retrospective Studies ; Interleukin-5 ; Hepatomegaly/complications* ; Immunoglobulins, Intravenous/adverse effects* ; Interleukin-8 ; Methylprednisolone ; Adrenal Cortex Hormones ; Diarrhea/complications* ; Exanthema/complications*

BACKGROUND: This study was aimed at analyzing the preoperative conditions post-operative results indication and methods of surgical closure of patent ducturs arteriosus in prematures low birth weight infants and neonates. PATIENTS AND METHODS: We retro-spectively studied two groups of patients (prematures group and neonates group) who underwent surgical closure of the patent ductus arteriosus between March 1995 and June 1998. RESULTS: The premature group consisted of 9 patients(3 males and 6 females) Their mean gestational period was 30.7 weeks(ranging from 26 weeks to 33 weeks) mean age 27.8 days(11 days to 55 days) and mean body weight 1.56 kg. Prominent preoperative symptoms were dependency on mechanical ventilation generalized edema and hepatomegaly. We performed PDA ligation via thoracotomy in all premature patients. The neonate group consisted of 16 patients and their mean body weight was 3.75 kg. Major symptoms of this group was tachypnea and intercostal retraction resistant to medical treatment. We performed video-assisted PDA clipping to them all. There were no postoperative complications or operation-related mortality in both groups. Comparing the ratio of size of PDA(mm)/body weight(kg) the ratio of premature group (ligation through thoracotomy) was higher than that of neonate group ( video-assisted clipping) that is 3,89:1.21(p=0.03) CONCLUSION: We conclude that the surgical closure of PDA can be a safe method of treatment for prematures low birth weight infants and neonates with compromised general conditions. Choice of surgical technique depends on the surgeon's preference but there was a tendency to choose the ligation method through thoracotomy for patients with small body weight and large PDA.
Body Weight ; Ductus Arteriosus, Patent ; Edema ; Hepatomegaly ; Humans ; Infant ; Infant, Low Birth Weight ; Infant, Newborn ; Infant, Premature ; Ligation* ; Male ; Mortality ; Postoperative Complications ; Respiration, Artificial ; Tachypnea ; Thoracotomy

A case of histiocytic medullary reticulosis with splenic infaraction from a 23-year-old male is presented. Radiologic findings on selective spleen scintigraphy and abdominal CT are described. Selective spleen scintigraphy showed huge, multilobulated spleen with numerous photon-deficient areas in it and peripherally. Abdominal CT showed large peripheral band-like low density and infiltrative lesion in spleen with accompanying intraabdominal lymphadenopathy. Histoligical features were consistent with HMR in spleen and liver specimens.
Adult ; Hemoperitoneum/etiology ; Hepatomegaly/etiology/pathology ; Histiocytic Sarcoma/*complications ; Humans ; Male ; Splenic Infarction/*etiology/radiography/radionuclide imaging ; Splenic Rupture/etiology ; Splenomegaly/etiology/pathology ; Tomography, X-Ray Computed

OBJECTIVETo investigate the computed tomography (CT) manifestations of liver involvement in children with Langerhans cell histiocytosis (LCH).

METHODSRetrospective analysis was performed on 9 LCH children with liver involvement confirmed by clinical, laboratory and pathological examinations to investigate the CT manifestations of this condition. These children, including 6 males and 3 females, had undergone both plain CT scan and dual-phase (the arterial and portal venous phases) contrast-enhanced CT scan.

RESULTSThe main CT manifestations included hepatomegaly (8 cases); periportal dendritic hypodense lesions or "periportal halo sign" (7 cases) which were mildly or moderately enhanced in the arterial phase; intrahepatic bile duct dilatation (5 cases); lymphadenopathy in the hepatic hilar or retroperitoneal region (4 cases); and diffuse small hypodense nodules (3 cases), which showed annular enhancement on the contrast-enhanced CT scan.

CONCLUSIONSCT findings may be helpful in the early diagnosis and treatment of LCH in children.

Child ; Child, Preschool ; Female ; Hepatomegaly ; diagnostic imaging ; Histiocytosis, Langerhans-Cell ; complications ; diagnostic imaging ; Humans ; Infant ; Liver ; diagnostic imaging ; pathology ; Male ; Retrospective Studies ; Tomography, X-Ray Computed ; methods

OBJECTIVETo understand the clinical feature and natural course of polycythemia vera (PV).

METHODSThe clinical symptoms, signs, laboratory examination and prognosis of 185 patients with PV were analysed.

RESULTSThere are 122 males and 63 females. The mean age was (52.7 +/- 14.1) years. The mean hemoglobin level was (208.3 +/- 21.2) g/L. Pancytosis was displayed in 74 (40%) cases, excess of red blood cells in 33 (17.8%), excess of red blood cells and granulocytes in 67 (36.2%) and excess of red blood cell and platelets in 11 (5.9%). Splenomegaly was found in 123 (66.5%) patients and hepatomegaly in 30 (16.2%). Quantitative assess of serum Epo was done in 25 patients. The level was low in 16 (64.2%) and normal in 9 (36.0%). Hematopoietic progenitor culture yields was elevated in 11 patients, endogenous erythroid colonies (EEC) formation was found in 10 cases (90.9%). Eighty two patients (44.3%) had 101 attacks of vascular thrombotic incidents, 7 patients developed myelofibrosis (MF). Secondary cancer occurred in 1 patient. Two patients died of thrombosis.

CONCLUSIONPV is an elderly adult myeloproliferative disease with a high frequency of thrombosis. EEC can be found out in PV patients. The serum Epo level is not increased in PV patients. The main sequelae of PV is MF.

Adult ; Aged ; Erythrocyte Count ; Female ; Hemoglobins ; metabolism ; Hepatomegaly ; etiology ; Humans ; Leukocyte Count ; Male ; Middle Aged ; Polycythemia Vera ; blood ; complications ; pathology ; Primary Myelofibrosis ; etiology ; Splenomegaly ; etiology ; Thrombosis ; etiology

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.
Adrenal Cortex Hormones/therapeutic use ; Female ; Hepatomegaly/complications/*diagnosis/pathology ; Humans ; Liver/pathology ; Magnetic Resonance Imaging ; Middle Aged ; Peliosis Hepatis/complications/*diagnosis/pathology ; Purpura, Thrombocytopenic, Idiopathic/complications/*diagnosis/drug therapy ; Tomography, X-Ray Computed ; Treatment Outcome

Glycogenic hepatopathy (GH) is an uncommon cause of serum transaminase elevation in type I diabetes mellitus (DM). The clinical signs and symptoms of GH are nonspecific, and include abdominal discomfort, mild hepatomegaly, and transaminase elevation. In this report we describe three cases of patients presenting serum transaminase elevation and hepatomegaly with a history of poorly controlled type I DM. All of the cases showed sudden elevation of transaminase to more than 30 times the upper normal range (like in acute hepatitis) followed by sustained fluctuation (like in relapsing hepatitis). However, the patients did not show any symptom or sign of acute hepatitis. We therefore performed a liver biopsy to confirm the cause of liver enzyme elevation, which revealed GH. Clinicians should be aware of GH so as to prevent diagnostic delay and misdiagnosis, and have sufficient insight into GH; this will be aided by the present report of three cases along with a literature review.
Acute Disease ; Adult ; Alanine Transaminase/blood ; Aspartate Aminotransferases/blood ; Delayed Diagnosis ; Diabetes Mellitus, Type 1/complications/*pathology ; Diagnostic Errors ; Female ; Glycogen Storage Disease/complications/*diagnosis/ultrasonography ; Hepatitis/diagnosis ; Hepatomegaly/complications/*diagnosis/ultrasonography ; Humans ; Liver/pathology ; Recurrence ; Young Adult

We report an autopsy case of congenital monoblastic leukemia that developed in monozygotic twins. The twin presented with progressive hepatosplenomegaly at 4 weeks after birth. One twin died of massive bleeding and hypovolemic shock before the treatment started. At autopsy, the liver was diffusely enlarged and showed a diffuse whitish discoloration except for the subcapsular and perivenular areas. Microscopic examination disclosed infiltration of histiocyte-like atypical cells along the sinusoids and portal areas of the liver. Spleen, lymph nodes and choroid plexus were also infiltrated by the tumor cells. However, bone marrow involvement of the tumor was minimal although multifocal. On immunohistochemical staining, these atypical cells were reactive for CD68 (PGM-1) and lysozyme, suggesting that the tumor cells might have been derived from mono- histiocyte. Cytogenetic study revealed 9;11 translocation, which is frequently associated with acute monoblastic leukemia. To the best of our knowledge, this is the first report of congenital monoblastic leukemia of monozygotic twins in Korea.
*Chromosomes, Human, Pair 11 ; *Chromosomes, Human, Pair 9 ; *Diseases in Twins/genetics ; Fatal Outcome ; Female ; Hepatomegaly/complications/genetics/pathology ; Human ; Infant, Newborn ; Leukemia, Monocytic, Acute/complications/*congenital/genetics/pathology ; Liver/pathology ; Splenomegaly/complications/genetics/pathology ; *Translocation (Genetics) ; *Twins, Monozygotic/genetics