Band-Like Intracranial Calcification With Simplified Gyration and Polymicrogyria: A Distinct "Pseudo-TORCH" Phenotype

被引：34

作者：

Briggs, T. A. ^{[9
]}

Wolf, N. I. ^{[2
]}

D'Arrigo, S. ^{[3
]}

Ebinger, F. ^{[2
]}

Harting, I. ^{[4
]}

Dobyns, W. B. ^{[5
,6
,7
]}

Livingston, J. H. ^{[8
]}

Rice, G. I. ^{[1
]}

Crooks, D. ^{[10
]}

Rowland-Hill, C. A. ^{[11
]}

Squier, W. ^{[12
]}

Stoodley, N. ^{[13
]}

Pilz, D. T. ^{[14
]}

Crow, Y. J. ^{[1
,15
]}

机构：

[1] St James Univ Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England

[2] Univ Childrens Hosp, Heidelberg, Germany

[3] Fdn IRCCS, Ist Neurol C Besta, Dev Neurol Dept, Milan, Italy

[4] Univ Heidelberg Hosp, Dept Neuroradiol, Heidelberg, Germany

[5] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA

[6] Univ Chicago, Dept Neurol, Chicago, IL 60637 USA

[7] Univ Chicago, Dept Pediat, Chicago, IL 60637 USA

[8] Leeds Gen Infirm, Dept Pediat Neurol, Leeds, W Yorkshire, England

[9] St James Univ Hosp, Dept Clin Genet, Leeds LS9 7TF, W Yorkshire, England

[10] Hull Royal Infirm, Dept Neuropathol, Kingston Upon Hull HU3 2JZ, N Humberside, England

[11] Hull Royal Infirm, Dept Neuroradiol, Kingston Upon Hull HU3 2JZ, N Humberside, England

[12] John Radcliffe Hosp, Dept Neuropathol, Oxford OX3 9DU, England

[13] Frenchay Hosp, Dept Neuroradiol, Bristol BS16 1LE, Avon, England

[14] Univ Wales Hosp, Dept Med Genet, Cardiff CF4 4XW, S Glam, Wales

[15] St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, England

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2008年 / 146A卷 / 24期

关键词：

pseudo-torch; intracranial calcification; polymicrogyria; cytomegalovirus;

D O I：

10.1002/ajmg.a.32614

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The combination of intracranial calcification and polymicrogyria is usually seen in the context of intrauterine infection, most frequently due to cytomegalovirus. Rare familial occurrences have been reported. We describe five patients-two male-female sibling pairs, one pair born to consanguineous parents, and an Unrelated female-with a distinct pattern of band-like intracranial calcification associated with simplified gyration and polymicrogyria. Clinical features include severe post-natal microcephaly, Seizures and profound developmental arrest. Testing for infectious agents was negative. We consider that these children have the same recognizable "pseudo-TORCH" phenotype inherited as an autosomal recessive trait. (C) 2008 Wiley-Liss, Inc.

引用

页码：3173 / 3180

页数：8

共 12 条

[1] Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria
Jenkinson, E. M.
Livingston, J. H.
O'Driscoll, M. C.
Desguerre, I.
Nabbout, R.
Boddaert, N.
Soares, G.
Goncalves da Rocha, M.
D'Arrigo, S.
Rice, G. I.
Crow, Y. J.
CLINICAL GENETICS, 2018, 93 (02) : 228 - 234
[2] Fetal Intracranial Calcification: Pseudo-TORCH Phenotype and Discussion of Related Phenotypes
Kulkarni, Akhil Muralidhar
Baskar, Shankar
Kulkarni, Muralidhar Laxmanrao
Kulkarni, Abhishek Jayateerth
Mahuli, Amit Vasanth
Vittalrao, Suhasini
Kulkarni, Preethi Muralidar
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (04) : 930 - 937
[3] Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria
O'Driscoll, Mary C.
Daly, Sarah B.
Urquhart, Jill E.
Black, Graeme C. M.
Pilz, Daniela T.
Brockmann, Knut
McEntagart, Meriel
Abdel-Salam, Ghada
Zaki, Maha
Wolf, Nicole I.
Ladda, Roger L.
Sell, Susan
D'Arrigo, Stefano
Squier, Waney
Dobyns, William B.
Liyingston, John H.
Crow, Yanick J.
AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 87 (03) : 354 - 364
[4] Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations
Abdel-Hamid, Mohamed S.
Abdel-Salam, Ghada M. H.
Issa, Mahmoud Y.
Emam, Bayoumi A.
Zaki, Maha S.
JOURNAL OF HUMAN GENETICS, 2017, 62 (05) : 553 - 559
[5] Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations
Mohamed S Abdel-Hamid
Ghada M H Abdel-Salam
Mahmoud Y Issa
Bayoumi A Emam
Maha S Zaki
Journal of Human Genetics, 2017, 62 : 553 - 559
[6] A commentary on band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations
Borges-Medeiros, Rayssa
Mendes de Oliveira, Joao Ricardo
JOURNAL OF HUMAN GENETICS, 2018, 63 (02) : 255 - 256
[7] A commentary on band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations
Rayssa Borges-Medeiros
João Ricardo Mendes de Oliveira
Journal of Human Genetics, 2018, 63 : 255 - 256
[8] Microcephaly, Malformation of Brain Development and Intracranial Calcification in Sibs: Pseudo-TORCH or a New Syndrome
Abdel-Salam, Ghada M. H.
Zaki, Maha S.
Saleem, Sahar N.
Gaber, Khaled R.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (22) : 2929 - 2936
[9] Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature
Aggarwal, Shagun
Bahal, Ashish
Dalal, Ashwin
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2016, 59 (01) : 5 - 10
[10] Pseudo-Torch syndrome:: the autosomal recessive syndrome of microcephaly, intracranial calcification and dysmorphism, resembling intrauterine infection..: An additional observation
Elçioglu, N
Alper, G
Yilmaz, Y
JOURNAL OF MEDICAL GENETICS, 2000, 37 : S56 - S56

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