Chinese Medical E-ournals Database

Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition) ›› 2019, Vol. 15 ›› Issue (01): 46 -50. doi: 10.3877/cma.j.issn.1673-5250.2019.01.008

Special Issue:

Original Article

Neonatal tuberous sclerosis complex: a case report and literatures review

Yong Zhang1, Baohuan Cai1,()   

  1. 1. Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan 430030, Hubei Province, China
  • Received:2018-06-06 Revised:2019-01-02 Published:2019-02-01
  • Corresponding author: Baohuan Cai
  • About author:
    Corresponding author: Cai Baohuan, Email:
  • Supported by:
    National Natural Science Foundation of China(81601328)
Objective

To summarize the clinical characteristics of neonatal tuberous sclerosis complex (TSC).

Methods

On December 13, 2017, due to high-risk infants, neonatal tuberous sclerosis complex yet to be investigated, a neonatal TSC was admitted and made a definite diagnosis in Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology was chosen as research subject. Retrospective analysis was made on the clinical case data of the infant and the clinical characteristics were summarized. Setting up the retrieval strategy for TSC literatures review: with the key words of "tuberous sclerosis" "neonatal sclerosis" and "cardiac rhabdomyoma" in Chinese, "tuberous sclerosis" "neonate" and"neonatal cardiac tumor" in English, the literatures on TSC were collected from Wanfang Data Knowledge Service Platform, China National Knowledge Infrastructure database and PubMed literatures database from construction to April 2017, and the clinical characteristics of TSC from these literatures were summarized. This study was in line with World Medical Association Declaration of Helsinki revised in 2013.

Results

①This patient was a girl with age of 30 min after birth when hospitalized, the admission diagnosis was high-risk infant, neonatal tuberous sclerosis complex yet to be investigated. Fetal heart color Doppler echocardiography at 37 gestational age showed "cardiac rhabdomyoma". There were no specific clinical symptoms or signs after birth, and the results of laboratory examination were basically normal. The results of cranial MRI showed "subependymal nodules". The neonatal was diagnosed as TSC by clinical manifestations. After admission, the neonatal was given nutrition and supportive treatments for 5 days, and the pathogenetic condition was stable and she was discharged by her parents′ request. There was no convulsions or skin lesions during the telephone follow-up until 5 months after birth. ②The results of literatures searched about TSC showed that the most common clinical manifestations of neonatal TSC were skin lesions, followed by cardiac and central nervous system lesions, and a few of these infants who underwent genetic examination had TSC2 gene compound heterozygous mutation, also part of TSC patients who accorded with clinical diagnosis of TSC got negative genetic examination results.

Conclusions

Neonatal physicians should strengthen the identification and screening of TSC for those neonates without typical clinical manifestations to avoid missed diagnosis and misdiagnosis.

图1 1例结节性硬化症新生儿生后48 h的头颅MRI影像图[图1A:矢状位短T1高信号,显示额顶叶及室管膜下结节样改变(白色箭头所示);图1B:轴位短T1高信号,显示额顶叶结节样改变(白色箭头所示);图1C:轴位短T1高信号,显示室管膜下结节样改变(白色箭头所示);图1D:轴位短T2低信号,显示室管膜下结节样改变(白色箭头所示)]
[1]
Krueger DA, Northrup H, International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference[J]. Pediatr Neurol, 2013, 49(4): 255-265.
[2]
Au KS, Williams AT, Roach ES, et al. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States[J]. Genet Med, 2007, 9(2): 88-100.
[3]
Lamb RF, Roy C, Diefenbach TJ, et al. The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho[J]. Nature Cell Biology, 2000, 2(5): 281-287.
[4]
Wienecke R, König A, Declue JE. Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity[J]. J Biol Chem, 1995, 270(27): 16409-16414.
[5]
Tee AR, Fingar DC, Manning BD, et al. Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling[J]. Proc Natl Acad Sci USA, 2002, 99(21): 13571-13576.
[6]
Beaumont TL, Limbrick DD, Smyth MD. Advances in the management of subependymal giant cell astrocytoma[J]. Childs Nerv Syst, 2012, 28(7): 963-968.
[7]
Kotulska K, Borkowska J, Roszkowski M, et al. Surgical treatment of subependymal giant cell astrocytoma in tuberous sclerosis complex patients[J]. Pediatr Neurol, 2014, 50(4): 307-312.
[8]
Pajak L, Jin F, Xiao GH, et al. Sustained cardiomyocyte DNA synthesis in whole embryo cultures lacking the TSC2 gene product[J]. Am J Physiol, 1997, 273(3 Pt 2): H1619-H1627.
[9]
Au KS, Rodriguez JA, Finch JL, et al. Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients[J]. Am J Hum Genet, 1998, 62(2): 286-294.
[10]
Niida Y, Lawrence-Smith N, Banwell A, et al. Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis[J]. Hum Mutat, 1999, 14(5): 412-422.
[11]
Hodges AK, Li S, Maynard J, et al. Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin[J]. Hum Mol Genet, 2001, 10(25): 2899-2905.
[12]
Hallett L, Foster T, Liu Z, et al. Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review[J]. Curr Med Res Opin, 2011, 27(8): 1571-1583.
[13]
Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex[J]. N Engl J Med, 2006, 355(13): 1345-1356.
[14]
Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis[J]. Lancet, 2008, 372(9639): 657-668.
[15]
Northrup H, Wheless JW, Bertin TK, et al. Variability of expression in tuberous sclerosis[J]. J Med Genet, 1993, 30(1): 41-43.
[16]
Yates JR, Maclean C, Higgins JN, et al. The tuberous sclerosis 2 000 study: presentation, initial assessments and implications for diagnosis and management[J]. Arch Dis Child, 2011, 96(11): 1020-1025.
[17]
Goh S, Butler W, Thiele EA. Subependymal giant cell tumors in tuberous sclerosis complex[J]. Neurology, 2004, 63(8): 1457-1461.
[18]
宋治海.结节性硬化症1例[J/CD].中华妇幼临床医学杂志(电子版),2014,10(3): 397-398.
[19]
Hinton RB, Prakash A, Romp RL, et al. Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group[J]. J Am Heart Assoc, 2014, 3(6): e001493.
[20]
Roach ES, Dimario FJ, Kandt RS, et al. Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association[J]. J Child Neurol, 1999, 14(6): 401-407.
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