1.A case of interstitial lung and liver disease caused by MARS1 gene mutation.
Wen-Jing PENG ; Yan ZHU ; Lai-Shuan WANG ; Wei LU ; Lin YANG ; Li ZHU
Chinese Journal of Contemporary Pediatrics 2023;25(11):1186-1190
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
2.Two Cases of Systemic Amyloidosis Presenting with Abnormalities in Liver Function Tests.
Jin Hyung PARK ; Chang Kun PARK ; Young Mi YUN ; Dong Woo HYUN ; Eun Soo KIM ; Soo Young PARK ; Chang Min JO ; Won Young TAK ; Young Oh KWEON ; Sung Kook KIM ; Yong Whan CHOI
The Korean Journal of Gastroenterology 2003;42(4):341-346
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
3.Histiocytic medullary reticulosis radiologic diagnosis of splenic infarction: a case report.
Seong Oh YANG ; Dong Soo LEE ; Kyung Soo LEE ; Myung Joon KIM ; Hyung Sik CHOI ; Yong Hwan JUN ; Yong Koo PARK
Journal of Korean Medical Science 1988;3(1):31-34
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
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Hemoperitoneum/etiology
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Hepatomegaly/etiology/pathology
;
Histiocytic Sarcoma/*complications
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Humans
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Male
;
Splenic Infarction/*etiology/radiography/radionuclide imaging
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Splenic Rupture/etiology
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Splenomegaly/etiology/pathology
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Tomography, X-Ray Computed
4.CT manifestations of liver involvement in children with Langerhans cell histiocytosis.
Hui LIU ; Xue-Ying LONG ; Wen-Zheng LI ; Xiao-Yi WANG ; Jue CAO ; Zhi-Jun LIU
Chinese Journal of Contemporary Pediatrics 2013;15(2):121-124
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
5.Radiographic features of plasma cell leukemia in the maxilla: A case report.
Phillip WONG ; Deeba KASHTWARI ; Madhu K NAIR
Imaging Science in Dentistry 2016;46(4):273-278
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
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Anemia
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Bone Marrow
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Female
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Hepatomegaly
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Humans
;
Hypercalcemia
;
Leukemia, Plasma Cell*
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Male
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Maxilla*
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Multiple Myeloma
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Pathology
;
Plasma Cells*
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Plasma*
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Renal Insufficiency
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Skeleton
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Splenomegaly
;
Thrombocytopenia
6.Systemic Lupus Erythematosus: Abdominal Radiologic Findings.
Jae Cheon OH ; On Koo CHO ; Yong Joo LEE ; Jae Ik BAE ; Yong Soo KIM ; Hyun Chul RHIM ; Byung Hee KO
Journal of the Korean Radiological Society 1999;40(6):1173-1179
Systemic lupus erythematosus(SLE) is a systemic disease of unknown etiology. Its main pathology is vasculitis and serositis, due to deposition of the immune complex or antibodies. Most findings are nonspecific ; abdominal manifestations include enteritis, hepatomegaly, pancreatic enlargement, serositis, lymphadenopathy, splenomegaly,nephritis, interstitial cystitis, and thrombophlebitis. We described radiologic findings of various organinvolvement of SLE; digestive system, serosa, reticuloendothelial system, urinary system, and venous system.Diagnosis of SLE was done according to the criteria of American Rheumatism Association. Understanding of thevariable imaging findings in SLE may be helpful for the early detection of abdominal involvement andcomplications.
Antibodies
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Antigen-Antibody Complex
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Cystitis, Interstitial
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Digestive System
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Enteritis
;
Hepatomegaly
;
Lupus Erythematosus, Systemic*
;
Lymphatic Diseases
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Mononuclear Phagocyte System
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Pathology
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Rheumatic Diseases
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Serositis
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Serous Membrane
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Thrombophlebitis
;
Vasculitis
7.A Case of Neonatal Adrenoleukodystrophy Presented with Neonatal Seizure.
Jungi CHOI ; Su Jeong YOU ; Tae Sung KO ; Ellen Ai Rhan KIM ; Ki Soo KIM ; Soo Young PI ; Han Wook YOO
Journal of the Korean Child Neurology Society 2005;13(1):99-103
Neonatal adrenoleukodystrophy(NALD) is an inherited autosomal recessive disease characterized by very early onset of neurologic deterioration, extreme hypotonia, poor sucking reflex, failure to thrive, poor or absent grasp and Moro reflexes, diminished deep tendon reflexes, neonatal seizure refractory to antiepileptic drugs, progressive hepatomegaly, and mild or absent craniofacial dysmorphism. In the peroxisomal biogenesis disorders, whose basic defect are the incapabilities to import one or more proteins into the organelle, include Zellweger syndrome(ZS), NALD, and infantile Refsum disease(IRD). These are now thought to represent a continuous spectrum of disease severity, ZS the most severe, IRD the least severe, and NALD intermediate. Furthermore, their biochemistry and microscopic pathology are nearly identical. The biochemical abnormalities of NALD are the elevated levels of very long chain fatty acid(VLCFA), phytanic acid, pristanic acid, pipecolic acid in plasma, cultured skin fibroblasts, and reduced plasmalogen contents in erythrocytes. There are no effective treatments until now. We experienced an one day old neonate with hypotonia and seizure, who was diagnosed as NALD by elevated plasma VLCFA. So we report the case with a brief review of literature.
Anticonvulsants
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Biochemistry
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Organelle Biogenesis
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Erythrocytes
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Failure to Thrive
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Fibroblasts
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Hand Strength
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Hepatomegaly
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Humans
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Infant, Newborn
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Muscle Hypotonia
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Organelles
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Pathology
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Peroxisomal Disorders*
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Phytanic Acid
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Plasma
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Reflex
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Reflex, Stretch
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Seizures*
;
Skin
8.Clinical analysis of 185 patients with polycythemia vera.
Jie BAI ; Zonghong SHAO ; Liping JING ; Hong LIU ; Jun SHI ; Mingfeng ZHAO ; Rong FU ; Guangsheng HE ; Juan SUN ; Hairong JIA ; Linsheng QIAN ; Tianying YANG ; Chongli YANG
Chinese Journal of Hematology 2002;23(11):578-580
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
9.Congenital Monoblastic Leukemia with 9;11 Translocation in Monozygotic Twins: A Case Report.
So Yeon PARK ; Ja June JANG ; Chul Woo KIM ; Han Ik CHO ; Je G CHI
Journal of Korean Medical Science 2001;16(3):366-370
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
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*Chromosomes, Human, Pair 9
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*Diseases in Twins/genetics
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Fatal Outcome
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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
10.A case report of systematic amyloid with hepatic function abnormal.
Li-Ling CAO ; Bin ZHAO ; Wei LAI ; Zhi-Gang LUO ; Xue-Ping CHEN
Chinese Journal of Hepatology 2010;18(1):71-71
Amyloid
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metabolism
;
Amyloidosis
;
complications
;
diagnosis
;
pathology
;
Biopsy, Fine-Needle
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Congo Red
;
Female
;
Hepatomegaly
;
etiology
;
Humans
;
Liver
;
metabolism
;
pathology
;
Liver Diseases
;
diagnosis
;
etiology
;
pathology
;
Liver Function Tests
;
Middle Aged
;
Tomography, X-Ray Computed