The patient is a female infant, 4 months and 9 days old, who was admitted to the hospital due to recurrent fever, cough, and hepatomegaly for over a month. The patient was a healthy full-term infant with a normal birth history. At 2 months and 22 days after birth, she developed recurrent fever, cough, and respiratory distress. Chest imaging revealed diffuse bilateral lung lesions, and fiberoptic bronchoscopy showed interstitial changes in both lungs. These suggested the presence of interstitial lung disease. The patient also presented with hepatomegaly, anemia, hyperlipidemia, hypothyroidism, and malnutrition. Genetic testing indicated compound heterozygous variations in the MARS1 gene. This mutation can cause interstitial lung and liver disease, which is a severe rare disorder that typically manifests in infancy or early childhood. It is inherited in an autosomal recessive manner and characterized by early-onset respiratory insufficiency and liver disease in infants or young children. Since its first reported case in 2013, as of June 2023, only 38 related cases have been reported worldwide. This article reports the multidisciplinary diagnosis and treatment of interstitial lung and liver disease in an infant caused by MARS1 gene mutation.
Female ; Humans ; Infant ; Cough ; Hepatomegaly/pathology* ; Liver Diseases ; Lung/pathology* ; Lung Diseases, Interstitial/pathology* ; Mutation

Plasma cell leukemia (PCL) is an aggressive form of multiple myeloma where there is hematogenous spread of abnormal plasma cells into the periphery. This is opposed to multiple myeloma, where the abnormal plasma cells stay in the bone marrow. PCL is more common in males than females, and is also more common in African-Americans than Caucasians. Signs and symptoms of PCL include, but are not limited to, renal insufficiency, hypercalcemia, anemia, lytic bone lesions, thrombocytopenia, hepatomegaly, and splenomegaly. Here, we discussed a case of a 71-year-old Caucasian female recently diagnosed with primary PCL with radiographic features of this disease throughout the body, with an emphasis on the maxillofacial skeleton and relevance from a dental standpoint.
Aged ; Anemia ; Bone Marrow ; Female ; Hepatomegaly ; Humans ; Hypercalcemia ; Leukemia, Plasma Cell* ; Male ; Maxilla* ; Multiple Myeloma ; Pathology ; Plasma Cells* ; Plasma* ; Renal Insufficiency ; Skeleton ; Splenomegaly ; Thrombocytopenia

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

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 describe the CT and MRI features of hepatic sinusoidal obstruction syndrome (HSOS) caused by herbal medicine Gynura segetum. MATERIALS AND METHODS: The CT and MRI features of 16 consecutive Gynura segetum induced HSOS cases (12 men, 4 women) were analyzed. Eight patients had CT; three patients had MRI, and the remaining five patients had both CT and MRI examinations. Based on their clinical presentations and outcomes, the patients were classified into three categories: mild, moderate, and severe. The severity of the disease was also evaluated radiologically based on the abnormal hepatic patchy enhancement in post-contrast CT or MRI images. RESULTS: Ascites, patchy liver enhancement, and main right hepatic vein narrowing or occlusion were present in all 16 cases. Hepatomegaly and gallbladder wall thickening were present in 14 cases (87.5%, 14/16). Periportal high intensity on T2-weighted images was present in 6 cases (75%, 6/8). Normal liver parenchymal enhancement surrounding the main hepatic vein forming a clover-like sign was observed in 4 cases (25%, 4/16). The extent of patchy liver enhancement was statistically associated with clinical severity classification (kappa = 0.565). CONCLUSION: Ascites, patchy liver enhancement, and the main hepatic veins narrowing were the most frequent signs of herbal medicine induced HSOS. The grade of abnormal patchy liver enhancement was associated with the clinical severity.
Adult ; Aged ; Ascites/diagnosis ; Asteraceae/chemistry ; Cholecystography ; Female ; Gallbladder/pathology ; Hepatic Veins/pathology/radiography ; Hepatic Veno-Occlusive Disease/chemically induced/*diagnosis ; Hepatomegaly/diagnosis ; Humans ; *Magnetic Resonance Imaging ; Male ; Middle Aged ; Phytotherapy/*adverse effects ; Pyrrolizidine Alkaloids/adverse effects ; Severity of Illness Index ; *Tomography, X-Ray Computed ; Young Adult

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

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

Amyloid ; metabolism ; Amyloidosis ; complications ; diagnosis ; pathology ; Biopsy, Fine-Needle ; Congo Red ; Female ; Hepatomegaly ; etiology ; Humans ; Liver ; metabolism ; pathology ; Liver Diseases ; diagnosis ; etiology ; pathology ; Liver Function Tests ; Middle Aged ; Tomography, X-Ray Computed

This report deals with the acute onset of an abortion outbreak and high sow mortality in one pig herd consisted of 1,200 pigs and 120 sows on Jeju Island, Korea. Affected pregnant sows showed clinical signs, including high fever, gradual anorexia, vomiting, depression, recumbency, prostration, abortion, and a few deaths. Four dead sows, five aborted fetuses from the same litter, and 17 sera collected from sows infected or normal were submitted to the Pathology Division of the National Veterinary Research and Quarantine Service for diagnostic investigation. Grossly, hepatomegaly and splenomegaly were observed in sows. Multiple necrotic foci were scattered in the lungs, liver, spleen, and lymph nodes. Microscopically, multifocal necrotizing lesions and protozoan tachyzoites were present in the lesions. Tachyzoites of Toxoplasma (T.) gondii were detected immunohistochemically. Latex agglutination showed that the sera of 7 of 17 (41.2%) sows were positive for antibody to T. gondii. The disease outbreak in this herd was diagnosed as epizootic toxoplasmosis. To our knowledge, this is the first report of porcine toxoplasmosis with a high abortion rate and sow mortality in Korea.
Aborted Fetus ; Abortion, Veterinary/blood/epidemiology/*parasitology/pathology ; Animals ; Antibodies, Protozoan/blood ; Disease Outbreaks/*veterinary ; Female ; Hepatomegaly/parasitology/veterinary ; Immunohistochemistry/veterinary ; Korea/epidemiology ; Latex Fixation Tests/veterinary ; Pregnancy ; Splenomegaly/parasitology/veterinary ; Swine ; Swine Diseases/blood/epidemiology/*parasitology/pathology ; Toxoplasma/*isolation & purification ; Toxoplasmosis, Animal/blood/epidemiology/parasitology/*pathology

Hepatitis A is generally known as a mild, self-limiting disease of the liver, but in rare instances it can progress to fulminant hepatitis, which may require liver transplantation for recovery. Such cases are known to be related to old age and underlying liver disease. We report four cases of hepatitis A in which patients presented with fulminant hepatitis and acute renal failure and underwent liver transplantation. The following common features were observed in our cases: (1) occurrence in relatively old age (> or =39 years old), (2) association with acute renal failure, (3) presence of hepatomegaly, and (4) microscopic features of submassive hepatic necrosis.
Adult ; Age Factors ; Female ; Hepatitis/complications/*diagnosis/therapy ; Hepatitis A/complications/*diagnosis ; Hepatomegaly/diagnosis/etiology ; Humans ; Kidney Failure, Acute/complications/*diagnosis ; Liver/pathology ; Liver Cirrhosis/diagnosis/etiology ; *Liver Transplantation ; Male ; Tomography, X-Ray Computed