1.Three Chinese children with Niemann-Pick disease type C with neonatal cholestasis as initial presentation.
Rui YANG ; Dongqiong TAN ; Yu WANG ; Jun YE ; Lianshu HAN ; Wenjuan QIU ; Xuefan GU ; Huiwen ZHANG
Chinese Journal of Pediatrics 2015;53(1):57-61
<b>OBJECTIVEb>To analyze the clinical characteristics of three Chinese cases of Niemann-Pick disease type C patients with neonatal cholestasis as initial presentation, and enhance awareness of Niemann-Pick disease type C among pediatricians.
<b>METHODb>Three sporadic cases with confirmed Niemann-Pick disease type C initially presented as neonatal cholestasis were retrospectively reviewed in this study. Their peripheral blood specimens were collected after obtaining informed consent. All exons and the intron-exon boundaries of NPC1 gene were examined by bi-directional sequencing.
<b>RESULTb>Three patients, 1 female and 2 males, aged from 2 months to 5 years and 10 months, all first complained of jaundice in the neonatal period. Laboratory tests showed total bilirubin and direct bilirubin significantly increased with predominant increase of direct bilirubin. Total bile acid, aspartate aminotransferase (AST), and alanine aminotransferase (ALT) were also increased, while high-density lipoprotein cholesterol decreased. All patients were also accompanied by hepatosplenomegaly, with two of them having increased bronchovascular markings in chest X-ray. Two heterozygous changes of NPC1 gene, c.2741G>T +c.3020C>G (p. C914F + p. P1007R), c.2177G>C + c.3734_ 3735delCT (p.R726T + p. P1245RfsX12), and c.2054T>C + c.2128C>T(p.I685T + p.Q710X), were identified in patient 1, 2 and 3, respectively.
<b>CONCLUSIONb>We reported three cases suffered from Niemann-Pick disease type C with initial presentation as neonatal cholestasis in the mainland of China. For newborns with prolonged jaundice in the neonatal period, as well as neonatal cholestasis, hepatosplenomegaly, Niemann-Pick type C should be included in consideration of differential diagnosis. Genetic testing can identify causative mutations for diagnosis.
Asian Continental Ancestry Group ; Bile Acids and Salts ; Bilirubin ; Child ; Child, Preschool ; China ; Cholestasis ; etiology ; Exons ; Female ; Humans ; Infant ; Infant, Newborn ; Infant, Newborn, Diseases ; Lipoproteins, HDL ; Male ; Mutation ; Niemann-Pick Disease, Type C ; complications ; diagnosis ; genetics ; pathology ; Niemann-Pick Diseases ; Retrospective Studies ; Splenomegaly
2.A Case of Type A Niemann-Pick Disease.
Eun Young JEON ; Kyung Ah CHOI ; Chul Hoe KOO ; Wha Mo LEE ; Young Suk JEON ; Chang Hun LEE ; Kang Suek SUH ; Sun Kyeung LEE
Journal of the Korean Pediatric Society 1998;41(2):275-280
Niemann-Pick disease is a storage disease characterized by accumulation of sphingomyelin and other lipids, mainly in the reticuloendothelial system. We experienced a case of type A Niemann-Pick disease in a 18-month-old male infant. He showed dyspnea, marked hepatosplenomegaly and developmental retardation. Fundoscopic examination revealed cherry red spots in both macula. Bone marrow aspirates showed characteristic foam cells. Autopsy finding revealed that liver, spleen, lung, lymph node and brain were involved. Reticular infiltration was shown on chest X-ray. We reported a case of type A Niemann-Pick disease with a brief review of the related literature.
Autopsy
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Bone Marrow
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Brain
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Dyspnea
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Foam Cells
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Humans
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Infant
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Liver
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Lung
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Lymph Nodes
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Male
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Mononuclear Phagocyte System
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Niemann-Pick Disease, Type A*
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Niemann-Pick Diseases
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Prunus
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Spleen
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Thorax
3.A Case of Niemann Pick Disease.
Sung Hwan KIM ; Young Joo CHOI ; In Ho KIM ; Sang Woo KIM
Journal of the Korean Pediatric Society 1983;26(10):1039-1043
No abstract available.
Niemann-Pick Diseases*
4.A Case of Niemann-Pick Disease with Sea-Blue histiocytes in the Bone Marrow.
Young Sun KIM ; Soo Heum LIM ; Jeong Kee SEO ; Hyo Seop AHN ; Hyung Ro MOON
Journal of the Korean Pediatric Society 1985;28(12):1238-1244
No abstract available.
Bone Marrow*
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Histiocytes*
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Niemann-Pick Diseases*
6.Stem Cells and Niemann Pick Disease.
International Journal of Stem Cells 2014;7(1):30-32
BACKGROUND AND OBJECTIVES: Niemann Pick A disease causes a progressive accumulation of sphyngomyelin in several organs and the survival of the patients is usually limited to three years. We describe the outcome of a patient suffering from Niemann Pick A disease, who first underwent an haploidentical bone marrow transplantation, and then intrathecal and I.V injections of mesenchymal cells. METHODS AND RESULTS: While the outcome of bone marrow transplantation was a complete failure, one month after the treatment with the mesenchymal cells the patient improved from the psychomotor and the parenchymal storage perspective. When hypersplenism was solved platelets rose quickly from 20,000 to 120,000/microliter. CONCLUSIONS: Therefore cellular therapy should be considered as a possible choice of treatment of NPA disease.
Bone Marrow Transplantation
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Humans
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Hypersplenism
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Niemann-Pick Diseases*
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Stem Cells*
10.Three-year Follow-up of Niemann-Pick Disease with Pulmonary Involvement: A Case Report.
Choong Wook LEE ; Hyun Woo GOO
Journal of the Korean Radiological Society 2005;52(1):37-40
Niemann-Pick disease is a rare inherited metabolic storage disease that causes excessive intracellular storage of sphingomyelin in various organs. We present the pulmonary imaging findings with particular emphasis on the CT findings in a case of Niemann-Pick disease type B with pulmonary involvement. The chest radiograph showed fine reticulonodular opacities in both basal lung fields, and the high-resolution chest CT showed centrilobular nodular opacities and smooth thickening of the interlobar fissure and interlobular septum with a basal lung predominance. Coronal reformatted CT revealed a prominent interlobular septal thickening around the diaphragm. The follow-up high-resolution chest CT showed no significant interval changes over a 3-years period.
Diaphragm
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Follow-Up Studies*
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Lung
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Niemann-Pick Diseases*
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Radiography, Thoracic
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Tomography, X-Ray Computed