• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.1
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• pp.31-31
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• 2016

Purpose: To describle clinical features and enzyme activity of Vietnamese patients with Mucolipidosis type II. Methods: Clinical features, laboratory and plasma lysosom enzyme activity by 4 MU-Fluorometric assay was studied from 2014-2015 at the Northern referral center of Pediatrics - National Children's Hospital. Results: 16 cases (7 girls and 9 boys) were diagnosed with I-cell bases on clinical symptoms and enzyme activities studies. Diagnosis age was $5.93{\pm}4.28$ years, onset age was recognised from birth to 4 years (median 1.25) with the feature of joint stiffness and bone deformation. All cases presented with the feature of joint stiffness, chest deformation and kyphoscoliosis; Fifteen cases (93.7%) had coarse facial features. No patients had hepatosplenomegaly on abdominal ultrasound, 5/15 patients had heart valves disease. Enzyme assay showed ${\alpha}$-Hexosaminidase of $1,885.9{\pm}338.7$ (nmol/mg plasma/17 hrs), ${\alpha}$-Iduronate sulfatase of $4,534.8{\pm}1,062.9nmol/mg$ plasma/4 hrs). Conclusion: Mucolipidosis II seriously affected the life of the patients with skeletal deformities, contractures develop in all joints and cardiac involvement.

• Annals of Clinical Neurophysiology
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• v.5 no.2
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• pp.210-213
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• 2003

POEMS syndrome is a multisystem disorder associated with polyneuropathy, organomegaly, endocrinopathy, a monoclonal protein(M-protein), and skin change. Recently we have had the opportunity to attend one patient with clinical features similar to this syndrome. He was a 46-year-old man who had a progressive polyneuropathy, swallowing difficulty, hepatosplenomegaly, hypothyroidism, IgA ${\lambda}type$ monoclonal gammapathy, specific skin change and ascites. His symptoms such as low extrimity pain and weakness, swallowing difficulty were improved by high-dose 7S-IgG. Thus, we report a case with a review of the literature.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.22 no.2
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• pp.201-206
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• 2019

Benign recurrent intrahepatic cholestasis (BRIC), a rare cause of cholestasis, is characterized by recurrent episodes of cholestasis without permanent liver damage. BRIC type 2 (BRIC2) is an autosomal recessive disorder caused by ABCB11 mutations. A 6-year-old girl had recurrent episodes of jaundice. At two months of age, jaundice and hepatosplenomegaly developed. Liver function tests showed cholestatic hepatitis. A liver biopsy revealed diffuse giant cell transformation, bile duct paucity, intracytoplasmic cholestasis, and periportal fibrosis. An ABCB11 gene study revealed novel compound heterozygous mutations, including c.2075+3A>G in IVS17 and p.R1221K. Liver function test results were normal at 12 months of age. At six years of age, steatorrhea, jaundice, and pruritus developed. Liver function tests improved following administration of phenylbutyrate and rifampicin. Her younger brother developed jaundice at two months of age and his genetic tests revealed the same mutations as his sister. This is the first report of BRIC2 confirmed by ABCB11 mutations in Korean siblings.

• Journal of Veterinary Clinics
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• v.40 no.5
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• pp.387-392
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• 2023

A 13-year-old intact male English Springer Spaniel presented with anorexia. Physical examination revealed a palpable abdominal mass without peripheral lymphadenopathy. Ultrasonography revealed hepatosplenomegaly and a markedly enlarged hepatic lymph node. Fine-needle aspiration of the splenic and nodal lesions revealed atypical round cells admixed with numerous histiocytes. The dog was euthanized owing to deteriorating condition despite a month of chemotherapy with lomustine. Histopathology revealed obliteration of the normal architecture of the liver, spleen, kidney, and hepatic and mesenteric lymph nodes by CD3⁺ neoplastic lymphocytes, accompanied by extensive F4/80⁺ histiocytic infiltration. This report describes a rare presentation of T-cell lymphoma with prominent histiocytic infiltration that may initially be misdiagnosed as histiocytic neoplasia in a dog.

• Clinical and Experimental Pediatrics
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• v.45 no.7
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• pp.923-927
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• 2002

Congenital hepatic fibrosis is a relatively rare disease, characterized by bile ductular proliferation and prominent fibrosis in the portal area of liver resulting in portal hypertension. It is frequently associated with other abnormalities such as polycystic kidney, Caroli syndrome, cystic dysplasia of pancreas, intestinal lymphangiectasia, pulmonary emphysema, hemangioma, and cleft palate. We report here a case of congenital hepatic fibrosis associated with renal tubular ectasia in a 3-year-old girl, whose chief complaint was abdominal distension. Her liver function test did not reveal any abnormal findings. Hepatosplenomegaly and multiple dilated bile ducts were seen in the abdominal CT scaning. Esophageal varix was not detected by an endoscopic examination. Microscopically, diffuse portal fibrosis and widening with proliferation of blie ductules in the liver specimen and tubular ectasia in renal cortex were seen.

• Journal of the korean academy of Pediatric Dentistry
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• v.27 no.1
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• pp.70-76
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• 2000

Congenital biliary atresia with progressive sclerosis of the intra- and extra-hepatic duct system occurs in 1 : 10,000 live births, and has a poor prognosis with an expected survival of less than 5 years. Etiology of biliary atresia is unclear, however, it is believed a genetic or developmental cause. The clinical characteristics include pronounced jaundice, hepatosplenomegaly, pruritus, steatorrhea, xanthomas, growth retardation, portal hypertension, bleedings, ascites and respiratory infections. Oral manifestations have seldom been reported in patients with biliary atresia, but there may be enamel hypoplasia, delayed tooth eruption, and green teeth. Early diagnosis and surgical intervention have decreased morbidity. returned growth and development to normal and improved the prognosis for survival. Authors report the clinical and radiologic characteristics, proper managements about two cases with biliary atresia.

• Clinical and Experimental Pediatrics
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• v.48 no.1
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• pp.104-107
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• 2005

Choledochal cyst is considered to be congenital anomalies of the biliary tract, characterized by varying degrees of cystic dilatation at various segments of the biliary tract. A 20-month-old girl was admitted to Eul-Ji general hospital because of abdominal distension. Physical examination revealed marked splenomegaly and hepatomegaly with nodular surface and hard consistency. Laboratory examination showed elevated transaminase level, alkaline phosphatase level and gamma glutamyltranspeptidase level without evidence of cholestasis. Diagnostic imaging study revealed choledochal cyst with Todani classification type 1. Cholecystectomy and Roux-en-Y choledochojejunostomy was performed, and wedge liver biopsy showed diffuse periportal fibrosis with cirrhotic change and ductular proliferation in the portal area. After operation, hepatosplenomegaly and abnormal laboratory examinations improved rapidly, and in 9 months, the liver and spleen became not palpable. We experienced a case of choledochal cyst complicated by liver cirrhosis on pathology in a 20 month-old girl, and removal of choledochal cyst improved clinical manifestations rapidly.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.7 no.1
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• pp.92-97
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• 2004

Posttranplantations lymphoproliferative disease (PTLD) is a common and life-threatening complication for soid organ transplantation associated with the use of chronic immunosuppression and Epstein-Barr virus. There is no standardized treatment algorithm, but numerous management strategies are vaiable. Partial splenic embolization (PSE) had been demonstrated to be an effetive alternatie to splenectomy for patients hypersplenism and portal hypertension. PSE has the advantages of non-invasive intervention and resolution of the complications of hypersplenism. We report the effect of the PSE in a 6-year old male liver transplantation recepient with PTLD who has undergone persistent hypersplenism post-transplant. We reduced immunosuppression agent, started antiviral agent. We started with interferon and IV globulin one month after admission. Hepatosplenomegaly and cervical lymphadenopathy were improved. But fever was not subside. We selectively embolized the lower pole of the spleen to achieve a 50~60% reduction in flow as determined by angiography. After embolization, fever subside and peripheral blood findings were improved. Follow up abdominal CT revealed reduced volume of spleen due to ischemic change and there was no multiple enlarged mesenteric lymphnode compared to preembolization state. We thick that PSE is a safe an effetive treatment modality of PTLD with persistent hypersplenism in patients twho failed to medical treatment.

• Pediatric Infection and Vaccine
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• v.17 no.2
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• pp.177-181
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• 2010

Few cases of macrophage activation syndrome (MAS) or reactive hemophagocytic lymphohistiocytosis (HLH) during the acute febrile phase of Kawasaki disease (KD) have been reported. We report on a case of a 19 month-old girl with MAS or reactive HLH during the course of KD. Despite immunoglobulin and steroid therapy, she showed persistent fever with hepatosplenomegaly and evidence of hemophagocytosis in the bone marrow. A high index of suspicion for clinical features associated with MAS is necessary for KD patients in order to provide appropriate treatment.

• Journal of Yeungnam Medical Science
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• v.32 no.2
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• pp.122-126
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• 2015

Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS) syndrome is a monoclonal plasma cell disorder. Patients with POEMS syndrome also have various clinical manifestations including generalized edema, pleural effusion, ascites, papilledema, and sclerotic bone lesions. These manifestations can lead to a misdiagnosis or delayed diagnosis. We recently experienced a 51-year-old male patient with POEMS syndrome whose sclerotic bone lesion was misdiagnosed as malignant bone metastasis of papillary thyroid carcinoma. We reassessed the patient and found polyneuropathy, hepatosplenomegaly, hypothyroidism, partial hypopituitarism, immunoglobulin G lambda-type monoclonal gammopathy, hypertrichosis, ascites, and multiple sclerotic bone lesions, all of which led us to a diagnosis of POEMS syndrome. Treatment with thalidomide and dexamethasone resulted in clinical and radiological improvement. The patient has remained in remission after peripheral blood stem cell transplantation.