OBJECTIVETo compare the clinical features of children with different clinical forms of congenital hepatic fibrosis (CHF), and provides a description of the characteristics of childhood CHF.

METHODSSixty children with CHF between January 2002 and June 2015 were enrolled, including 26 children with portal hypertensive CHF (PH CHF), 3 children with cholangitic CHF, 30 children with combined portal hypertensive and cholangitic CHF (mixed CHF), and 1 child with latent forms of CHF. The medical data of 26 children with PH CHF and 30 children with mixed CHF, including gender, age, clinical manifestations, physical signs, laboratory tests and imaging characteristics, were retrospectively studied.

RESULTSFever, jaundice and hepatomegaly were more frequently noted in children with mixed CHF than in those with PH CHF (P<0.05). Splenomegaly and liver cirrhosis occurred more often in children with CHF, but there was no significant difference in the incidences of splenomegaly and liver cirrhosis between the children with PH CHF and mixed CHF. The plasma prothrombin activity, white blood cell counts, platelet counts, mean platelet volume, serum levels of alanine transaminase, aspartate transaminase, alkaline phosphatase, γ-glutamyl transferase, leucine aminopeptidase, and total bile acids in children with mixed CHF were higher than in those with PH CHF (P<0.05). The decreased international normalized ratio and lower serum albumin levels were more frequently observed in children with mixed CHF than in those with PH CHF (P<0.05).

CONCLUSIONSPH and mixed CHF are common forms in childhood CHF. The children with the two forms of PH usually manifest portal hypertension such as cirrhosis and hepatosplenomegaly. The liver damage may be common in children with mixed CHF.

Adolescent ; Alkaline Phosphatase ; blood ; Child ; Female ; Genetic Diseases, Inborn ; complications ; diagnosis ; Humans ; Liver Cirrhosis ; complications ; diagnosis ; Male ; Splenomegaly ; etiology

Hemophagocytic lymphohistiocytosis (HLH) was a life-threatening syndrome due to the uncontrolled immune activation of cytotoxic T lymphocytes, natural killer (NK) cells, and macrophages. HLH is characterized by primary and secondary causes, the early diagnosis and treatment of patients are closely related to the prognosis and clinical outcome of patients. The clinical presentation is variable but mostly includes prolonged fever, splenomegaly, coagulopathy, hypertriglyceridemia, and hemophagocytosis, none of them is specific and particular for HLH. Tuberculosis (TB) infection is one of the causes of HLH. HLH caused by TB is very rare clinically, but it has a high mortality. For patients with fever of unknown origin, HLH-related clinical manifestations sometimes present before the final diagnosis of TB, and HLH is associated with the most significant mortality rate. This article is mainly about a 28-year-old patient with HLH who suffered from severe TB infection. The patient attended a hospital with a history of 2 months of prolonged fever, 10 days booger and subcutaneous hemorrhage in lower limbs. Before this, he was in good health and denied any history of tuberculosis exposure. Combined with relevant laboratory test results (such as splenomegaly, hemoglobin, platelet count, and hypertriglyceridemia) and clinical manifestations (e.g. fever), the patient was diagnosed with hemophagocytic lymphohistiocytosis, but the etiology of HLH remained to be determined. To confirm the etiology, the patient was asked about the relevant medical history (intermittent low back pain) and was performed chest CT scan, bone marrow biopsy, and fundus photography. Finally, he was diagnosed with hemophagocytic lymphohistiocytosis caused by hematogenous disseminated pulmonary tuberculosis. In response to this, intravenous methylprednisolone and anti-tuberculosis treatment (isoniazid, pyrazinamide, moxifloxacin, and amikacin) were administered to the patient. After more than a month of treatment, the patient recovered from HLH caused by severe TB infection. Therefore, this case suggests that we should be vigilant to the patient who admitted to the hospital with fever for unknown reasons, to diagnose HLH as early as possible and clarify its cause, then perform interventions and treatment, especially HLH secondary to tuberculosis. Also, cases of atypical TB and severe TB should be carefully monitored to achieve early diagnosis and early intervention.
Male ; Humans ; Adult ; Lymphohistiocytosis, Hemophagocytic/diagnosis* ; Splenomegaly ; Tuberculosis, Pulmonary/diagnosis* ; Bone Marrow/pathology* ; Fever/etiology* ; Hypertriglyceridemia/complications*

A 2-year-old boy was admitted into the hospital because of cough and fever. Lymph node tuberculosis was noted when he was 2 months old and he was subsequently hospitalized several times because of cough and fever. After hospitalization the laboratory examination showed an increased eosinophia level in blood. The immune function tests shows decreased levels of IgG, IgA, and IgM. The patient had no response to anti-tuberculosis, anti-bacterial, and anti-fungal treatment, resulting in recurrent fever and progressive enlargement of the liver and spleen. Jam-like stools were noted 35 days after admission. B ultrasonography showed suspected intussusception. Laparotomy, reduction of intussusception and ileocecum angioplasty, biopsies of intestinal wall nodules and lymphoglandulae mesentericae, and hepatic biopsy were then performed under general anesthesia. The patient eventually died because of postoperative severe liver damage, disseminated intravascular coagulation and electrolyte disorder. Both the blood culture and hepatic biopsy tests showed Penicillium marneffei infecton. Immunodeficiency gene test was performed on the patient, his bother and their parents. T→G base substitution mutation (IVS1-3 T→G) in the CD40L gene was found in the patient. X-linked hyper-IgM syndrome was thus diagnosed in the patient. His mother was a carrier of the mutated CD40L gene, but his father was normal in the gene test. Hemizygous mutation in the CD40L gene was found in both the patient and his bother.
CD40 Ligand ; genetics ; Child, Preschool ; Eosinophilia ; etiology ; Fever ; etiology ; Hepatomegaly ; etiology ; Humans ; Hyper-IgM Immunodeficiency Syndrome ; diagnosis ; genetics ; Male ; Mutation ; Recurrence ; Splenomegaly ; etiology

We recently encountered a case of hereditary spherocytosis coexisting with Gilbert's syndrome. Patient was initially diagnosed with Gilbert's syndrome and observed, but other findings suggestive of concurrent hemolysis, such as splenomegaly and gallstones were noted during the follow-up period. Therefore, further evaluations, including a peripheral blood smear, osmotic fragility test, autohemolysis test, and red blood cell membrane protein test were performed, and coexisting hereditary spherocytosis was diagnosed. Genotyping of the conjugation enzyme uridine diphosphate-glucuronosyltransferase was used to confirm Gilbert's syndrome. Because of the high prevalence rates and similar symptoms of these 2 diseases, hereditary spherocytosis can be masked in patients with Gilbert's syndrome. In review of a case and other article, the possibility of the coexistence of these 2 diseases should be considered, especially in patients with unconjugated hyperbilirubinemia who also have splenomegaly and gallstones.
Adult ; Erythrocytes/physiology ; Gallstones/etiology ; Genotype ; Gilbert Disease/complications/*diagnosis/genetics ; Glucuronosyltransferase/genetics ; Hemolysis ; Humans ; Hyperbilirubinemia/etiology ; Male ; Polymorphism, Single Nucleotide ; Spherocytosis, Hereditary/complications/*diagnosis/genetics ; Splenomegaly/etiology

Essential thrombocythemia (ET) is a chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. After many years, a few patients with ET may develop bone marrow (BM) fibrosis and rarely develop osteosclerosis. A 60-yr-old female was admitted due to severe left upper quadrant abdominal discomfort. She had been diagnosed as ET 19 yrs ago. On liver computed tomography severe splenomegaly was shown. Laboratory tests revealed WBC 24.3x10(9)/L, hemoglobin 13.4 g/dL, platelets 432x10(9)/L, lactate dehydrogenase 4,065 IU/L (reference range; 240-480). Blood smear demonstrated leukoerythroblastosis, teardrop cells, and giant and hypogranular platelets. BM study revealed inadequate aspirate due to dry tap. BM biopsy showed clusters of dysplastic megakaryocytes, grade 3 fibrosis, and severe osteosclerosis. Major/minor BCR-ABL1 rearrangement and JAK2 V617F mutation were not detected. Cytogenetic studies revealed normal karyotype. According to the 2008 WHO diagnostic criteria, the patient was diagnosed as having post-essential thrombocythemia myelofibrosis with severe osteosclerosis.
Bone Marrow/pathology ; Female ; Humans ; Megakaryocytes/pathology ; Middle Aged ; Osteosclerosis/complications/*diagnosis ; Primary Myelofibrosis/complications/*diagnosis ; Splenomegaly/etiology ; Thrombocythemia, Essential/complications/*diagnosis ; Tomography, X-Ray Computed

Aloe is one of the leading products used in phytomedicine. Several cases of aloe-induced toxic hepatitis have been reported in recent years. However, its toxicology has not yet been systematically described in the literature. A 21-year-old female patient was admitted to our hospital with acute hepatitis after taking an aloe vera preparation for four weeks. Her history, clinical manifestation, laboratory findings, and histological findings all led to the diagnosis of aloe vera-induced toxic hepatitis. We report herein on a case of acute toxic hepatitis induced by aloe vera.
Adult ; Aged ; Alanine Transaminase/blood ; Alkaline Phosphatase/blood ; Aloe/*chemistry/metabolism ; Drug-Induced Liver Injury/*diagnosis/etiology/pathology ; Female ; Humans ; Liver/pathology ; Male ; Middle Aged ; Plant Extracts/*adverse effects/*chemistry ; Splenomegaly/diagnosis ; Tomography, X-Ray Computed ; Young Adult

Previous studies reported that oxaliplatin is associated with sinusoidal obstruction syndrome. However few reports on oxaliplatin induced liver fibrosis are found in the literature. Furthermore pathogenesis of liver fibrosis is not well known. We report a case of 45-yr-old Korean man in whom liver fibrosis with splenomegaly developed after 12 cycles of oxaliplatin based adjuvant chemotherapy for colon cancer (T4N2M0). Thorough history taking and serological examination revealed no evidence of chronic liver disease. Restaging CT scans demonstrated a good response to chemotherapy. Five month after chemotherapy, he underwent right hepatectomy due to isolated metastatic lesion. The liver parenchyma showed diffuse sinusoidal dilatation and centrilobular vein fibrosis with necrosis without steatosis. We could conclude that splenomegaly was due to perisinusoidal liver fibrosis and liver cell necrosis induced portal hypertension by oxaliplatin. In addition, to investigate the pathogenesis of liver fibrosis, immunohistochemical stains such as CD31 and alpha-smooth muscle actin (alpha-SMA) were conducted with control group. The immunohistochemical stains for CD31 and alpha-SMA were positive along the sinusoidal space in the patient, while negative in the control group. Chemotherapy with oxaliplatin induces liver fibrosis which should be kept in mind as a serious complication.
Actins/metabolism ; Antigens, CD31/metabolism ; Antineoplastic Combined Chemotherapy Protocols/*therapeutic use ; Camptothecin/*analogs & derivatives/therapeutic use ; Chemotherapy, Adjuvant ; Colonic Neoplasms/*drug therapy ; Fluorouracil/therapeutic use ; Humans ; Hypertension, Portal/etiology ; Immunohistochemistry ; Leucovorin/therapeutic use ; Liver Cirrhosis/*diagnosis/etiology/pathology ; Liver Neoplasms/secondary/surgery ; Male ; Middle Aged ; Organoplatinum Compounds/*administration & dosage/adverse effects/therapeutic use ; Splenomegaly/*diagnosis/etiology ; Thrombocytopenia/etiology ; Tomography, X-Ray Computed

OBJECTIVETo explore the clinical characteristics of Wolman disease and diagnostic methods using enzymatic and molecular analysis.

METHODLysosomal acid lipase activity was measured using 4-methylumbelliferyl oleate in the leukocytes of an infant suspected of Wolman disease and LIPA gene mutational analysis was performed by PCR and direct sequencing in the proband and his parents. After the diagnosis was confirmed, the clinical, biochemical, radiological and histopathological findings in this case of Wolman disease were retrospectively reviewed.

RESULTThe sixteen-day-old boy was failing to thrive with progressive vomiting, abdominal distention and hepatosplenomegaly. Abdominal X-ray revealed adrenal calcifications which were confirmed on abdominal CT scan. Xanthomatosis were observed on enlarged liver, spleen and lymph nodes during abdominal surgery. Liver and lymph node biopsy showed foamy histiocytes. The lysosomal acid lipase activity in leukocytes was 3.5 nmol/(mg·h) [control 35.5 - 105.8 nmol/(mg·h)]. Serum chitotriosidase activity was 315.8 nmol/(ml·h) [control 0 - 53 nmol/(ml·h)]. The patient was homozygote for a novel insert mutation allele c.318 ins T, p. Phe106fsX4 in exon 4 on LIPA gene. His both parents were carriers of the mutation.

CONCLUSIONThe clinical features of Wolman disease include early onset of vomiting, abdominal distention, growth failure, hepatosplenomegaly and bilateral adrenal calcification after birth. A plain abdominal X-ray film should be taken to check for the typical pattern of adrenal calcification in suspected cases of Wolman disease. The enzymatic and molecular analyses of lysosomal acid lipase can confirm the diagnosis of Wolman disease.

Adrenal Gland Diseases ; etiology ; pathology ; Exons ; Humans ; Infant, Newborn ; Leukocytes ; enzymology ; Lipase ; blood ; genetics ; Liver ; pathology ; Lysosomes ; enzymology ; genetics ; Male ; Mutation ; Polymerase Chain Reaction ; Splenomegaly ; pathology ; Sterol Esterase ; genetics ; Tomography, X-Ray Computed ; Wolman Disease ; diagnosis ; enzymology ; genetics ; pathology

OBJECTIVE: We wanted to evaluate the short-term effects of balloon-occluded retrograde transvenous obliteration (BRTO) for treating gastric variceal bleeding, in terms of the portal hypertensive changes, by comparing CT scans. MATERIALS AND METHODS: We enrolled 27 patients who underwent BRTO for gastric variceal bleeding and they had CT scans performed just before and after BRTO. The pre- and post-procedural CT scans were retrospectively compared by two radiologists working in consensus to evaluate the short-term effects of BRTO on the subsequent portal hypertensive changes, including ascites, splenomegaly, portosystemic collaterals (other than gastrorenal shunt), the gall bladder (GB) edema and the intestinal wall edema. Statistical differences were analyzed using the Wilcoxon signed rank test and the paired t-test. RESULTS: Following BRTO, ascites developed or was aggravated in 22 (82%) of 27 patients and it was improved in two patients; the median spleen volumes increased from 438.2 cm3 to 580.8 cm3, and based on a 15% volume change cut-off value, splenic enlargement occurred in 15 (56%) of the 27 patients. The development of new collaterals or worsening of existing collaterals was not observed in any patient. GB wall edema developed or was aggravated in four of 23 patients and this disappeared or improved in five; intestinal wall edema developed or was aggravated in nine of 27 patients, and this disappeared or improved in five. Statistically, we found significant differences for ascites and the splenic volumes before and after BRTO (p = 0.001 and p < 0.001, respectively) CONCLUSION: Some portal hypertensive changes, including ascites and splenomegaly, can be aggravated shortly after BRTO.
Adult ; Aged ; Aged, 80 and over ; Ascites/diagnosis/etiology ; Balloon Occlusion/adverse effects/*methods ; Cholecystography ; Contrast Media/administration & dosage ; Edema/diagnosis/etiology ; Esophageal and Gastric Varices/complications/*therapy ; Female ; Follow-Up Studies ; Gastrointestinal Hemorrhage/etiology/*therapy ; Humans ; Hypertension, Portal/*diagnosis/etiology ; Intestines/radiography ; Iohexol/analogs & derivatives/diagnostic use ; Liver Cirrhosis/complications ; Male ; Middle Aged ; Observer Variation ; Organ Size ; Retrospective Studies ; Spleen/radiography ; Splenomegaly/diagnosis/etiology ; Time Factors ; Tomography, X-Ray Computed/*methods ; Treatment Outcome

To compare clinical features, diagnosis and therapeutic effect between pulmonary histoplasmosis and progressive disseminated histoplasmosis.
 Methods: A retrospective analysis for 12 cases of hospitalized patients with histoplasmosis, who was admitted in Xiangya Hospital, Central South University during the time from February 2009 to October 2015, was carried out. Four cases of pulmonary histoplasmosis and 8 cases of progressive disseminated histoplasmosis were included. The differences of clinical features, imaging tests, means for diagnosis and prognosis were analyzed between the two types of histoplasmosis.
 Results: The clinical manifestations of pulmonary histoplasmosis were mild, such as dry cough. However, the main clinical symptoms of progressive disseminated histoplasmosis were severe, including recurrence of high fever, superficial lymph node enlargement over the whole body, hepatosplenomegaly, accompanied by cough, abdominal pain, joint pain, skin changes, etc.Laboratory examination showed pancytopenia, abnormal liver function and abnormal coagulation function. One pulmonary case received the operation of left lower lung lobectomy, 3 cases of pulmonary histoplasmosis and 6 cases of progressive disseminated histoplasmosis patients were given deoxycholate amphotericin B, itraconazole, voriconazole or fluconazole for antifungal therapy. One disseminated case discharged from the hospital without treatment after diagnosis of histoplasmosis, and 1 disseminated case combined with severe pneumonia and active tuberculosis died ultimately.
 Conclusion: As a rare fungal infection, histoplasmosis is easily to be misdiagnosed. The diagnostic criteria depends on etiology through bone marrow smear and tissues biopsy. Liposomeal amphotericin B, deoxycholate amphotericin B and itraconazole are recommended to treat infection for histoplasma capsulatum.
Abdominal Pain ; etiology ; Amphotericin B ; therapeutic use ; Antifungal Agents ; therapeutic use ; Biopsy ; Cough ; epidemiology ; Death ; Deoxycholic Acid ; therapeutic use ; Diagnostic Errors ; Drug Combinations ; Fever ; etiology ; Hepatomegaly ; etiology ; Histoplasma ; Histoplasmosis ; complications ; diagnosis ; mortality ; therapy ; Humans ; Invasive Fungal Infections ; complications ; diagnosis ; therapy ; Itraconazole ; therapeutic use ; Lung ; microbiology ; surgery ; Lung Diseases, Fungal ; diagnosis ; surgery ; therapy ; Pneumonia ; complications ; mortality ; Recurrence ; Retrospective Studies ; Splenomegaly ; etiology ; Treatment Outcome ; Tuberculosis ; complications ; mortality