Pearson Syndrome in the Neonatal Period Two Case Reports and Review of the Literature

被引：43

作者：

Manea, Elena Maria

Leverger, Guy ^{[1
]}

Bellmann, Francoise

Stanescu, Popp Alina ^{[3
,4
]}

Mircea, Adam

Lebre, Anne-Sophie ^{[2
]}

Roetig, Agnes ^{[2
]}

Munnich, Arnold ^{[2
]}

机构：

[1] Univ Paris 06, Hop Armand Trousseau, AP HP, UMRS 938,Dept Pediat Hematol Oncol, Paris 6, France

[2] Hop Necker Enfants Malad, AP HP, Dept Med Genet, Paris, France

[3] Alfred Rusescu Inst, Dept Pediat, Bucharest, Romania

[4] Alfred Rusescu Inst, Dept Pediat, Paris, France

来源：

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2009年 / 31卷 / 12期

关键词：

Pearson syndrome; neonatal; MARROW-PANCREAS-SYNDROME; MITOCHONDRIAL-DNA DELETION; REFRACTORY SIDEROBLASTIC ANEMIA; IN-SITU HYBRIDIZATION; MTDNA DELETION; 3-METHYLGLUTACONIC ACIDURIA; ORGANIC ACIDURIA; PRECURSORS; PATIENT; VACUOLIZATION;

D O I：

10.1097/MPH.0b013e3181bbc4ef

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Pearson syndrome is a multiorgan mitochondrial cytopathy that results from defective oxidative phosphorylation owing to mitochondrial DNA deletions. Prognosis is severe and death occurs in infancy or early childhood. This article describes 2 cases with a severe neonatal onset of the disease. A review of the literature reveals the atypical presentation of the disease in the neonatal period, which is often overlooked and underdiagnosed.

引用

收藏

页码：947 / 951

页数：5

相关论文

共 56 条

[1] REFRACTORY-ANEMIA AND MITOCHONDRIAL CYTOPATHY IN CHILDHOOD [J].

BADERMEUNIER, B ;

ROTIG, A ;

MIELOT, F ;

LAVERGNE, JM ;

CROISILLE, L ;

RUSTIN, P ;

LANDRIEU, P ;

DOMMERGUES, JP ;

MUNNICH, A ;

TCHERNIA, G .

BRITISH JOURNAL OF HAEMATOLOGY, 1994, 87 (02) :381-385

[2] MITOCHONDRIAL-DNA DELETION IN AN 8-YEAR-OLD BOY WITH PEARSON SYNDROME [J].

BAERLOCHER, KE ;

FELDGES, A ;

WEISSERT, M ;

SIMONSZ, HJ ;

ROTIG, A .

JOURNAL OF INHERITED METABOLIC DISEASE, 1992, 15 (03) :327-330

[3] IDENTICAL MITOCHONDRIAL-DNA DELETION IN MOTHER WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA AND SON WITH PEARSON MARROW-PANCREAS SYNDROME [J].

BERNES, SM ;

BACINO, C ;

PREZANT, TR ;

PEARSON, MA ;

WOOD, TS ;

FOURNIER, P ;

FISCHELGHODSIAN, N .

JOURNAL OF PEDIATRICS, 1993, 123 (04) :598-602

[4] PANCYTOPENIA AND VACUOLATION OF MARROW PRECURSORS ASSOCIATED WITH NECROTIZING ENCEPHALOPATHY [J].

BLATT, J ;

KATERJI, A ;

BARMADA, M ;

WENGER, SL ;

PENCHANSKY, L .

BRITISH JOURNAL OF HAEMATOLOGY, 1994, 86 (01) :207-209

[5] WIDESPREAD MULTITISSUE DELETIONS OF THE MITOCHONDRIAL GENOME IN THE PEARSON MARROW-PANCREAS SYNDROME [J].

CORMIER, V ;

ROTIG, A ;

QUARTINO, AR ;

FORNI, GL ;

CERONE, R ;

MAIER, M ;

SAUDUBRAY, JM ;

MUNNICH, A .

JOURNAL OF PEDIATRICS, 1990, 117 (04) :599-602

[6] Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome [J].

Cursiefen, C ;

Küchle, M ;

Scheurlen, W ;

Naumann, GOH .

AMERICAN JOURNAL OF OPHTHALMOLOGY, 1998, 125 (02) :260-261

[7]

DEMEOCQ F, 1983, ARCH FR PEDIATR, V40, P631

[8] MYOPATHOLOGY AND A MITOCHONDRIAL-DNA DELETION IN THE PEARSON MARROW AND PANCREAS SYNDROME [J].

DEVRIES, DD ;

BUZING, CJM ;

RUITENBEEK, W ;

VANDERWOUW, MPME ;

SPERL, W ;

SENGERS, RCA ;

TRIJBELS, JMF ;

VANOOST, BA .

NEUROMUSCULAR DISORDERS, 1992, 2 (03) :185-195

[9] DETECTION OF EXTREMELY LOW-LEVELS OF WILD-TYPE MITOCHONDRIAL-DNA IN THE LIVER OF A PATIENT WITH PEARSON SYNDROME BY A SENSITIVE PCR ASSAY [J].

DEVRIES, DD ;

RUITENBEEK, W ;

VANOOST, BA .

JOURNAL OF INHERITED METABOLIC DISEASE, 1992, 15 (03) :307-310

[10] Allogeneic bone marrow transplantation for Pearson's syndrome [J].

Faraci, M. ;

Cuzzubbo, D. ;

Micalizzi, C. ;

Lanino, E. ;

Morreale, G. ;

Dallorso, S. ;

Castagnola, E. ;

Schiaffino, M. C. ;

Bruno, C. ;

Rossi, A. ;

Dini, G. ;

Cappelli, B. .

BONE MARROW TRANSPLANTATION, 2007, 39 (09) :563-565

← 1 2 3 4 5 6 →