Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome

被引:4
作者
Bayat, Allan [1 ]
Kirchhoff, Maria [2 ]
Madsen, Camilla Gobel [3 ]
Kreiborg, Sven [4 ,5 ]
机构
[1] Univ Hosp Hvidovre, Dept Pediat, Hvidovre, Denmark
[2] Copenhagen Univ Hosp, Dept Clin Genet, Rigshosp, Copenhagen, Denmark
[3] Univ Copenhagen, Hvidovre Hosp, Ctr Funct & Diagnost Imaging & Res, Dept Radiol, Copenhagen, Denmark
[4] Univ Copenhagen, Fac Hlth & Med Sci, Sch Dent, Dept Pediat Dent & Clin Genet, Copenhagen, Denmark
[5] Univ Copenhagen, Copenhagen Univ Hosp, Sch Dent, Craniofacial Image Res Lab 3D,Rigshosp, Copenhagen, Denmark
关键词
Craniofacial abnormality; Craniosynostosis; 9p deletion syndrome; Neonatal hyperinsulinemic hypoglycemia; Ventriculomegaly; Thalamic infarction; Germinal matrix haemorrhage; CANDIDATE REGION; FEATURES; STROKE; DELINEATION; DIAGNOSIS; PHENOTYPE; INFANTS;
D O I
10.1016/j.ejmg.2018.03.009
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report the clinical and neuroradiological findings in a young boy harboring the 9p deletion syndrome including the novel findings of thalamic infarction and germinal matrix haemorrhage and neonatal hyperinsulinemic hypoglycemia. Both the hypoglycemic events and the ventriculomegaly found in this patient have previously only been reported in two patients, while the thalamic infarction and germinal matrix haemorrhage are novel features.
引用
收藏
页码:473 / 477
页数:5
相关论文
共 23 条
[1]   Familial balanced translocation leading to an offspring with phenotypic manifestations of 9p syndrome [J].
Abreu, L. S. ;
Brassesco, M. S. ;
Moreira, M. L. C. ;
Pina-Neto, J. M. .
GENETICS AND MOLECULAR RESEARCH, 2014, 13 (02) :4302-4310
[2]  
ALFI O, 1973, ANN GENET-PARIS, V16, P17
[3]   Prevalence and Predictors of Perinatal Hemorrhagic Stroke: Results From the Kaiser Pediatric Stroke Study [J].
Armstrong-Wells, Jennifer ;
Johnston, S. Claiborne ;
Wu, Yvonne W. ;
Sidney, Stephen ;
Fullerton, Heather J. .
PEDIATRICS, 2009, 123 (03) :823-828
[4]   Maternal and infant characteristics associated with perinatal arterial stroke in the preterm infant [J].
Benders, Manon J. N. L. ;
Groenendaal, Floris ;
Uiterwaal, Cuno S. P. M. ;
Nikkels, Peter G. J. ;
Bruinse, Hein W. ;
Nievelstein, Rutger A. J. ;
de Vries, Linda S. .
STROKE, 2007, 38 (06) :1759-1765
[5]   NONKETOTIC HYPERGLYCINEMIA IN A PATIENT WITH THE 9P- SYNDROME [J].
BURTON, BK ;
PETTENATI, MJ ;
BLOCK, SM ;
BENSEN, J ;
ROACH, ES .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 32 (04) :504-505
[6]   Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome [J].
Christ, LA ;
Crowe, CA ;
Micale, MA ;
Conroy, JM ;
Schwartz, S .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (05) :1387-1395
[7]   Further refinement of the candidate region for monosomy 9p syndrome [J].
Faas, Brigitte H. W. ;
de Leeuw, Nicole ;
Mieloo, Hanneke ;
Bruinenberg, Jos ;
de Vries, Bert B. A. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (19) :2353-2356
[8]   DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources [J].
Firth, Helen V. ;
Richards, Shola M. ;
Bevan, A. Paul ;
Clayton, Stephen ;
Corpas, Manuel ;
Rajan, Diana ;
Van Vooren, Steven ;
Moreau, Yves ;
Pettett, Roger M. ;
Carter, Nigel P. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (04) :524-533
[9]   Risk factors for perinatal arterial ischaemic stroke in full-term infants: a case-control study [J].
Harteman, Johanna C. ;
Groenendaal, Floris ;
Kwee, Anneke ;
Welsing, Paco M. J. ;
Benders, Manon J. N. L. ;
de Vries, Linda S. .
ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION, 2012, 97 (06) :F411-F416
[10]  
Hauge XY, 2008, GENET MED, V10, P599, DOI 10.1097GIM.0b013e31817e2bde