World Journal Of Pediatrics-articles

Weaning of nasal CPAP in preterm infants: who, when and how? a systematic review of the literature

Shaili Amatya, Deepa Rastogi, Alok Bhutada, Shantanu Rastogi

Author Affiliations: Division of Neonatology, Maimonides Infants & Children's Hospital, 4802 Tenth Ave, K-113, Brooklyn NY 11219, USA (Amatya S, Bhutada A, Rastogi S); Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10467, USA (Rastogi D)

Corresponding Author: Shantanu Rastogi, MD, Maimonides Infant and Children's Hospital, 4802 Tenth Ave, K-113, Brooklyn NY 11219, USA (Tel: 718-283-8853; Email: srastogi@maimonidesmed.org)

doi: 10.1007/s12519-014-0535-4

Background: There is increased use of early nasal continuous positive airway pressure (NCPAP) to manage respiratory distress in preterm infants but optimal methods and factors associated with successful wean are not well defined. A systematic review was performed to define the corrected gestational age (CGA), weight to wean NCPAP and the methods associated with successful weaning of the NCPAP among preterm infants, along with factors affecting it.

Methods: Searches were made of PubMed using the keywords-NCPAP, CPAP, weaning, withdrawal, preterm, and infants from its inception to January 1st, 2014, for studies in all languages but limited to humans. Previous reviews (including cross references) were also searched. We included all randomized and quasi-randomized controlled trials where preterm neonates were randomized to different NCPAP weaning strategies. Details of CGA, weight and methods used for weaning NCPAP were extracted along with factors which affect its withdrawal.

Results: Seven studies met the search criteria. The successful wean was at 32 to 33 weeks CGA and at 1600 g. Three different methods were used for weaning were sudden, gradual pressure wean and gradual graded time off wean. Criteria for readiness, success and failure to wean were defined. Factors affecting successful weaning were intubation, anemia, infection and gastro-esophageal reflux.

Conclusions: The successful wean was at 32 to 33 weeks CGA and 1600 g. Criteria for readiness, success and failure to wean are well defined. Sudden weaning may be associated with a shorter weaning time. Future trials are needed comparing weaning methods using defined criteria for readiness and success of NCPAP wean and stratify the results by gestational age and birth weight.

World J Pediatr 2015;11(1):7-13

Key words: continuous positive airway pressure;

systematic review;

Acute fractures of the pediatric foot and ankle

Mansur Halai, Bilal Jamal, Paul Rea, Mobeen Qureshi, Anand Pillai

Author Affiliations: Department of Trauma and Orthopedics, University Hospitials of South Manchester, Manchester M23 9LT, UK (Halai M, Jamal B, Rea P, Qureshi M, Pillai A)

Corresponding Author: Mansur Halai, MRCS, Department of Trauma and Orthopedics, Southern General Hospital, Glasgow, G51 4TF, UK (Email: mansurhalai@googlemail.com)

doi: 10.1007/s12519-015-0002-x

Background: Injuries around the foot and ankle are challenging. There is a paucity of literature, outside that of specialist orthopedic journals, that focuses on this subject in the pediatric population.

Data sources: In this review, we outline pediatric foot and ankle fractures in an anatomically oriented manner from the current literature. Our aim is to aid the emergency department doctor to manage these challenging injuries more effectively in the acute setting.

Results: These injuries require a detailed history and examination to aid the diagnosis. Often, plain radiographs are sufficient, but more complex injuries require the use of magnetic resonance imaging. Treatment is dependent on the proximity to skeletal maturity and the degree of displacement of fracture. Children have a marked ability to remodel after fractures and therefore mainstay treatment is immobilization by a cast or splint. Operative fixation, although uncommon in this population, may be necessary with adolescents, certain unstable injuries or in cases with displaced articular surface. In the setting of severe foot trauma, skin compromise and compartment syndrome of the foot must be excluded.

Conclusion: The integrity of the physis, articular surface and soft tissues are all equally important in treating these injuries.

World J Pediatr 2015;11(1):14-20

Key words: ankle;

Pathogenesis of childhood idiopathic nephrotic syndrome: a paradigm shift from T-cells to podocytes

Kazunari Kaneko, Shoji Tsuji, Takahisa Kimata, Tetsuya Kitao, Sohsaku Yamanouchi, Shogo Kato

Author Affiliations: Department of Pediatrics, Kansai Medical University, 2-5-1 Shin-machi, Hirakata, Osaka 573-1010, Japan (Kaneko K, Tsuji S, Kimata T, Kitao T, Yamanouchi S, Kato S)

Corresponding Author: Kazunari Kaneko, MD, Professor and Chair, Department of Pediatrics, Kansai Medical University, 2-5-1 Shin-machi, Hirakata, Osaka 573-1010, Japan (Tel: +81-72-804-0101 ext. 2560; Fax: +81-72-804-2758; Email: kanekok@hirakata.kmu.ac.jp)

doi: 10.1007/s12519-015-0003-9

Background: Nephrotic syndrome is the most common cause of kidney disease in children, but its pathogenesis remains unclear. This article reviews the novel aspects of the mechanisms underlying massive proteinuria in minimal-change disease, which is the most common form of childhood nephrotic syndrome.

Data sources: This article integrates the findings of a PubMed database search for English language articles published in the past 40 years (from September 1974 to February 2014) using the key words "pathogenesis", "minimal change nephrotic syndrome" or "idiopathic nephrotic syndrome".

Results: Unknown humoral factors associated with T-cell dysfunction have been thought to play an important role in the pathogenesis of minimal-change disease. However, recent findings are changing this paradigm, i.e., visceral glomerular epithelial cells (podocytes) may be involved via expression of molecules such as CD80 and angiopoietin-like 4.

Conclusions: Recent evidence suggests that minimal-change disease results from interactions between humoral factors and dysfunctional podocytes. In addition to immunosuppressant drugs that target lymphocytes, a biological agent such as an antibody against the abnormal molecule(s) expressed by podocytes may provide novel drug treatment for minimal-change disease.

World J Pediatr 2015;11(1):21-28

Key words: angiopoietin-like 4;

minimal change nephrotic syndrome;

Henoch-Schönlein purpura nephritis in children: incidence, pathogenesis and management

Jun-Yi Chen, Jian-Hua Mao

Author Affiliations: Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China (Chen JY, Mao JH)

Corresponding Author: Jian-Hua Mao, PhD, Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China (Tel: 86-571-87061007; Fax: 86-571-87033296; Email: maojh88@126.com)

doi: 10.1007/s12519-014-0534-5

Background: Henoch-Schönlein purpura (HSP) is one of the most common vasculitides in children. It is manifested by skin purpura, arthritis, abdominal pain, renal involvement, etc. Typically, HSP is considered to be self-limiting, although renal involvement (HSP purpura nephritis, HSPN) is the principal cause of morbidity from this disease. For this reason, it is important to clarify the mechanism of onset and clinical manifestations of HSPN and to ascertain the most appropriate treatment for HSPN. In this article, we review the updated pathophysiology and treatment strategies for HSPN.

Data sources: We searched databases including PubMed, Elsevier and Wanfang for the following key words: Henoch-Schönlein purpura, nephritis, mechanism and treatment, and we selected those publications written in English that we judged to be relevant to the topic of this review.

Results: Based on the data present in the literature, we reviewed the following topics: 1) the possible pathogenesis of HSPN: several studies suggest that immunoglobulin A immune complexes deposit in the mesangium and induce renal injury; 2) multiple-drug treatment for HSPN: although there have been few evidence-based treatment strategies for HSPN, several studies have suggested that immunosuppressive drugs and multiple drug combination therapy were effective in ameliorating proteinuria and histological severity.

Conclusions: HSPN is a severe disease of childhood. To better understand this disease, detailed investigations into the pathogenesis of HSPN and prospective randomized controlled treatment studies on children with severe HSPN are needed.

World J Pediatr 2015;11(1):29-34

Key words: Henoch-Schönlein purpura;

immunosuppressive drug;

Update on the management of ovarian torsion in children and adolescents

Abdul Ghani Nur Azurah, Zakaria Wan Zainol, Ani Amelia Zainuddin, Pei Shan Lim, Aqmar Suraya Sulaiman, Beng Kwang Ng

Kuala Lumpur, Malaysia

Author Affiliations: Department of Obstetrics and Gynaecology, UKM Medical Centre, Kuala Lumpur, Malaysia (Nur Azurah AG, Wan Zainol Z, Zainuddin AA, Lim PS, Sulaiman AS, Ng BK)

Corresponding Author: Abdul Ghani Nur Azurah, MBBS, MOG (UKM), MD, Department of Obstetrics and Gynaecology, UKM Medical Centre, Kuala Lumpur, Malaysia (Email: nurazurahag@gmail.com; azurah@ppukm.ukm.edu.my)

doi: 10.1007/s12519-014-0536-3

Background: Ovarian torsion is commonly seen in young girls. Unfortunately it is often misdiagnosed because of its non-specific symptoms and lack of diagnostic modalities. This article focuses on the diagnostic challenge and also the changes in the management of ovarian torsion.

Data sources: We reviewed original reports on the management of ovarian torsion in young girls published from 1984 till 2014. A literature search was conducted by electronic scanning of five electronic database: MEDLINE, EMBASE, SCI, SSCI and CINAHL. In addition, relevant papers and review articles were hand-searched. The search was limited to English language and human studies. The search was conducted by combining the textwords "ovarian torsion", "adnexal torsion", "adolescents" and "oophoropexy".

Results: There are no specific symptoms that can be identified as a pathognomonic feature of ovarian torsion. Ultrasound is a useful diagnostic tool, but it is not always reliable in absence of an enlarged ovary. Laparoscopic detorsion is recognized as the mainstay of treatment regardless the condition of the ovaries. Reports have shown favorable ovarian function after detorsion. The role of oopheropexy remains controversial.

Conclusions: Clinicians should be aware of ovarian torsion in girls presenting with abdominal pain. A timely management in this young population can help preserve their ovaries and fertility.

World J Pediatr 2015;11(1):35-40

Key words: adolescents;

Incidence and determinants of sudden infant death syndrome: a population-based study on 37 million births

Ghaidaa F Hakeem, Lisa Oddy, Christina A Holcroft, Haim A Abenhaim

Author Affiliations: Department of Obstetrics and Gynecology, Jewish General Hospital, McGill University (Hakeem GF, Abenhaim HA); Center for Clinical Epidemiology and Community Studies, Jewish General Hospital, Montréal, Québec, Canada (Oddy L, Holcroft CA, Abenhaim HA)

Corresponding Author: Haim A Abenhaim, MD, MPH, FRCSC, Department of Obstetrics and Gynecology, Jewish General Hospital, McGill University, 5790 Cote-Des-Neiges, Pav. H 325, Montréal, Québec, H3S 1Y9, Canada (Email: haim.abenhaim@gmail.com)

doi: 10.1007/s12519-014-0530-9

Background: The objective of our study is to measure the incidence of sudden infant death syndrome (SIDS), estimate the birth to death interval, and identify associated maternal and infant risk factors.

Methods: We carried out a population-based cohort study on 37 418 280 births using data from the Centers for Disease Control and Prevention's "Linked Birth-Infant Death" and "Fetal Death" data files from 1995 to 2004. Descriptive statistics and cox-proportional hazard models were used to estimate the adjusted effect of maternal and newborn characteristics on the risk of SIDS.

Results: There were 24 101 cases of SIDS identified for an overall 10-year incidence of 6.4 cases per 10 000 births. Over the study period, the incidence decreased from 8.1 to 5.6 per 10 000 and appeared to be most common among infants aged 2-4 months. Risk factors included maternal age <20 years, black, non-Hispanic race, smoking, increasing parity, inadequate prenatal care, prematurity and growth restriction.

Conclusions: While the incidence of SIDS in the US has declined, it currently remains the leading cause of post-neonatal mortality, highlighting an important public health priority. Educational campaigns should be targeted towards mothers at increased risk in order to raise their awareness of modifiable risk factors for SIDS such as maternal smoking and inadequate prenatal care.

World J Pediatr 2015;11(1):41-47

Key words: incidence;

sudden infant death syndrome

Diagnosis of pervasive developmental disorders: when and how? An area-based study about health care providers

Silvia Manea, Laura Visonà Dalla Pozza, Monica Mazzucato, Oliviana Gelasio, Paola Facchin

Veneto Region, Italy

Author Affiliations: Veneto Region Child & Mother Health Observatory, Epidemiology and Community Medicine Unit, Department of Pediatrics, Padua University (Manea S, Visonà Dalla Pozza L, Mazzucato M, Gelasio O, Facchin P)

Corresponding Author: Silvia Manea, MD, PhD, Veneto Region Child & Mother Health Observatory, Epidemiology and Community Medicine Unit, Department of Pediatrics, Padua University, Via Pietro Donà 11, 35129, Padua, Italy (Tel: +39 049 8215700; Fax: +39 049 8215701; Email: manea@pediatria.unipd.it)

doi: 10.1007/s12519-014-0533-6

Background: Pervasive developmental disorders (PDDs) can be very difficult to diagnose in children and to communicate such a diagnosis to their parents. Families of children with PDD learn of their child's diagnosis long after the first symptoms are noted in the child's behavior.

Methods: An area-based survey was conducted to assess all social and health care providers taking care of patients with PDDs in the Veneto Region (North-East Italy).

Results: Only 28% of health care providers arrived at a definite diagnosis when the child was in his/her first year of age, 51% when the child was 2-3 years old and 21% from age of 4 years and up. On average, the latency between the time of the diagnosis and its communication to the family was 6.9 months. However, a number of families did not ever have a diagnosis communicated to them. Sometimes, 68% of the providers did not communicate a PDDs diagnosis to patient's families, and 4% of them quite commonly.

Conclusion: The well-known delay in making a diagnosis of PDDs has two distinct components: one relating to the difficulty of confirming a diagnosis of PDDs, the other, hitherto unrecognized, relating to the family being notified.

World J Pediatr 2015;11(1):48-53

Key words: autism, pervasive development disorders;

classification system;

Preliminary analysis of stem cell-like cells in human neuroblastoma

Li-Li Xing, Yong-Liang Sha, Ye-Ming Wu, Ji-Meng Hu, Min Zhang, Fan Lv

Author Affiliations: Department of Pediatric Surgery, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China (Xing LL, Sha YL, Wu YM, Hu JM, Zhang M, Lv F)

Corresponding Author: Fan Lv, Department of Pediatric Surgery, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China (Email: fanlu1978@gmail.com)

doi: 10.1007/s12519-014-0529-2

Background: Neuroblastoma is an embryonic neoplasm originating from the neural crest with cellular heterogeneity as one of its oncobiological characteristics. This study was undertaken to determine whether human neuroblastoma contains stem cell-like cells.

Methods: Twenty patients with neuroblastoma who have been treated in our hospital since January 2005 were divided into pre-operative chemotherapy (10 patients) and non-chemotherapy (10) groups. Tumor specimens of the patients were taken and paraffin sections were made. The expressions of stem cell markers CD133, ABCG2, CD117 and nestin were immunohistochemically detected in the specimens. Neuroblastoma cells were stained with Hoechst 33342 and PI. The side population (SP) cells were analyzed by the fluorescence-activated cell sorter. The disparity drug resistance to cisplatin (DDP) of SP and non-SP cells was measured with MTT colorimetric assay. The oncogenicity of SP and non-SP cells was identified in nude mice.

Results: There was no significant difference in the expression intensity of CD117 and nestin between the two groups of specimens (P>0.05). There was a significant difference between the two groups in terms of the expression intensity of CD133 and ABCG2 (P<0.05). The SP cells accounted for 0.2%-1.3% of the total human neuroblastoma cells and were decreased to 0.1%-0.5% after verapamil treatment. The SP and non-SP cells showed disparity in cell growth experiment and drug resistance to DDP. Oncogenicity experiment revealed that nude mice could erupt tumor by an injection of l×10⁶ SH-SY5Y and WIV SP cells. However, the nude mice could not form tumor by an injection of l×10⁶ non-SP cells.

Conclusion: Neuroblastoma might contain cancer stem cell-like cells.

World J Pediatr 2015;11(1):54-60

Key words: drug resitance;

immunohistochemically;

side population cells

Postnatal development of fetuses with a single umbilical artery: differences between malformed and non-malformed infants

Jose Vicente Arcos-Machancoses, Purificación Marín-Reina, Eugenia Romaguera-Salort, Yolanda García-Camuñas, Antonio Pérez-Aytés, Máximo Vento

Author Affiliations: Department of Pediatrics (Archos-Machancoses JV, García-Camuñas Y); Division of Neonatology (Marín-Reina P, Vento M); Department of Obstetrics & Gynecology (Romaguera-Salort E), Division of Dysmorphology & Reproductive Assessment (Pérez-Aytés A), University & Polytechnic Hospital La Fe, Valencia, Spain

Corresponding Author: Máximo Vento, MD, PhD, Division of Neonatology, University & Polytechnic Hospital La Fe, Bulevar Sur s/n, Valencia 46026, Spain (Tel: +34 961245688; Email: maximo.vento@uv.es)

doi: 10.1007/s12519-014-0471-3

Background: The presence of a single umbilical artery (SUA) is a fetal soft marker of congenital abnormalities. Among the most common related malformations, there are cardiological, nephrourological and digestive anomalies, most of which are considered to have a vascular etiology. There is an association between increased incidence of intrauterine growth retardation and adverse perinatal indicators, but whether this association is due to related anomalies or isolated SUA (iSUA) is controvisal.

Methods: We reviewed 96 cases of iSUA and non-isolated SUA (niSUA), diagnosed in a period of two years in a referral hospital for high-risk pregnancies. Data on prenatal explorations, including fetal ultrasonography and karyotyping, were obtained. niSUA was diagnosed when no malformations were found prenatally or in postnatal evaluation.

Results: Sixty-six newborns (68.8%) had no other anomalies and 30 (31.3%) presented with a variety of malformations including heart diseases, urophaties, digestive, nervous and musculoskeletal disorders, genetic abnormalities and complex malformations. Cardiological and nephrourological abnormalities were found to be the most frequent association with a SUA (both in 23.8% of malformed SUA newborns). Intrauterine growth restriction was not higher in iSUA newborns than in a normal population. Ultrasound allowed optimal prenatal diagnosis in most cases.

Conclusions: The prognosis of the fetus with a SUA is determined by the presence of other malformations observed by an expert sonographer. If no other findings are made, only a routine physical examination should be performed in newborns, but no other complementary examinations are required.

World J Pediatr 2015;11(1):61-66

Key words: cardiovascular abnormalities;

congenital abnormalities;

fetal growth retardation;

prenatal ultrasonography;

single umbilical artery

Investigation of the status of interhospital transport of critically ill pediatric patients

Jun Qiu, Xiao-Li Wu, Zheng-Hui Xiao, Xian Hu, Xue-Li Quan, Yi-Min Zhu

Author Affiliations: Department of Children's Intensive Research Center, Hunan Children's Hospital, Changsha 410007, China (Qiu J, Xiao ZH, Hu X, Quan XL, Zhu YM); Department of Obstetrics and Gynecology, Maternal And Child Health Hospital Of Hunan Province, Changsha 410007, China (Wu XL)

Corresponding Author: Yi-Min Zhu, PhD, Department of Children's Intensive Research Center, Hunan Children's Hospital, Changsha 410007, China (Tel: +8613907315063; Fax: +8673085600902; Email: cszhuyimin@126.com)

doi: 10.1007/s12519-015-0004-8

Background: With the unequal distribution of medical resources in developing countries, critically ill children need to be transferred to tertiary hospitals from primary hospitals with limited resources. Although a large number of critically ill children are transferred each day in China, the standard process of inter-hospital transport is not formulated.

Methods: We retrospectively analyzed the data collected during transport. A total number of 9231 patients (≤14 years) who had been transferred to the Hunan Children's Hospital by a specialized team from primary hospitals from January 1, 2009 to June 30, 2012 were included in the study.

Results: Nearly half of the critically ill children were neonates (48.72%) and two thirds of the children were suffering from respiratory, neurological and cardiac diseases. Multivariate adjusted odds ratios (OR) and 95% confidence intervals (CI) were calculated using unconditional logistic regression. Mobilization time in non-working hours was longer than the working hours (OR=1.186, 95% CI=1.059-1.329). Our study showed that mobilization time for neonates was shorter than that for older children (OR=0.801, 95% CI=0.692-0.928). The mobilization time of referral cases was shorter in areas within a radius of 50 km than in those within a radius of over 250 km (OR=0.427, 95% CI=0.350-0.521). Referred patients in summer needed a significantly shorter mobilization time than in winter (OR=0.705, 95% CI=0.616-0.806).

Conclusion: Standardized processes and guidelines for inter-hospital transport would be essential to ensure effective transport of patients and reduce the mobilization activation time.

World J Pediatr 2015;11(1):67-73

Key words: critically ill pediatric patients;

inter-hospital transport;

specialist retrieval teams

Therapeutic effect of placenta-derived mesenchymal stem cells on hypoxic-ischemic brain damage in rats

Hong-Fang Ding, Hui Zhang, Hui-Fang Ding, Dong Li, Xin-Hao Yi, Xin-Yi Gao, Wei-Wei Mou, Xiu-Li Ju

Author Affiliations: Department of Pediatrics, Qilu Hospital, Shandong University, Jinan 250012, China (Ding HF, Li D, Ju XL); Department of Pediatrics, Shengli Oil Field Central Hospital, Dongying 257034, China (Ding HF, Ding H, Yi XH, Gao XY, Mou WW); Department of Neurology, Qingdao Municipal Hospital, Qingdao 266000, China (Zhang H)

Corresponding Author: Xiu-Li Ju, PhD, Department of Pediatrics, Qilu Hospital, Shandong University, No. 107 West Wenhua Road, Jinan 250012, China (Tel: +86 0546 8770581; Fax: +86 0546 8555760; Email: qlyyjxl@163.com)

doi: 10.1007/s12519-014-0531-8

Background: Oxidative stress is involved in the development of hypoxic-ischemic brain damage (HIBD). In this study, we investigated the therapeutic effects of placenta-derived mesenchymal stem cells (PD-MSCs) and explored the NF-E2-related factor-2/heme oxygenase-1 (Nrf2/HO-1) signaling pathway in treating HIBD.

Methods: P7 rats were subjected to hypoxic-ischemic brain injury and randomly divided into four groups (control, HIBD, HIBD+PD-MSCs, and HIBD+fibroblasts). Forty-eight hours after the induction of HIBD, 5×10⁵ of PD-MSCs were injected into cerebral tissue in the HIBD+PD-MSCs group, while the same dose of fibroblasts were injected in the HIBD+fibroblasts group. Morris Water Maze, gross and pathological changes were tested at P28. The level of malondialdehyde (MDA) was detected in rats' hippocampus. RT-PCR and western blot analysis were used to evaluate the changes of Nrf2/HO-1.

Results: The HIBD group showed significantly longer escape latency and a lower frequency of original platform crossing in the Morris Water Maze compared with the control group. Rats receiving PD-MSCs showed significant improvement of HIBD. The pathological changes were evident after HIBD, but ameliorated in the PD-MSCs group. Compared with the control group, HO-1 and Nrf2 were up-regulated at gene and protein levels in the HI brain, beginning at 6 hours and peaking at 48 hours (P<0.05). The expression of HO-1 and Nrf2 in the PD-MSCs treatment group was more pronounced than in the HIBD group (P<0.01). PD-MSCs also decreased MDA production in the brain tissue.

Conclusion: These results demonstrate that PD-MSCs have neuroprotective effect during the treatment of HIBD and that the mechanism may be partly due to alleviating oxidative stress.

World J Pediatr 2015;11(1):74-82

Key words: hypoxia-ischemia;

mesenchymal stem cells;

oxidative stress

Double trisomy 48,XXX,+18 with multiple dysmorphic features

Zi-Yan Jiang, Xiao-Hui Wu, Chao-Chun Zou

Author Affiliations: Department of Pediatrics, Children's Hospital, Zhejiang University School of Medicine and the Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education (Jiang ZY, Wu XH, Zou CC)

Corresponding Author: Chao-Chun Zou, MD, Children's Hospital, Zhejiang University School of Medicine, 57 Zhugan Xiang, Hangzhou 310003, China (Tel: +86-571-88873011; Fax: +86-571-87033296; Email: zou108cc@yahoo.com)

doi: 10.1007/s12519-015-0005-7

Background: Chromosomal abnormality is a common cause of congenital anomalies, psychiatric disorders, and mental retardation. However, the double trisomy 48,XXX,+18 is a rare chromosome abnormality.

Methods: Case report and literature review.

Results: A 7-hour-old girl presented to our unit because of poor response after birth. She presented with multiple dysmorphic features, including small for gestational age infant, flat nasal bridge, widely-spaced eyes, the left thumb deformities, flat facial profile, raised sternum, ventricular septal defect, the third lateral brain ventricle enlargement, and small liver. This case expands the spectrum of malformations reported in association with the double trisomy 48,XXX,+18. The literature on 16 fetuses or infants with the 48,XXX,+18 were also reviewed.

Conclusion: These data suggested that in patients with clinical features similar to trisomy 18, especially with anomalies of the ears and/or reproductive malformations, double trisomy (48,XXX,+18) should be considered and karyotyping should be performed although it is a rare disease.

World J Pediatr 2015;11(1):83-88

Key words: 48,XXX,+18;

chromosome abnormality;

multiple dysmorphic features