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THE JOURNAL OF THE JAPAN PEDIATRIC SOCIETY
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Vol.122, No.6, June 2018
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Original Article
Title
Neurodevelopmental Outcomes of Congenital Heart Diseases and Very-low-birth-weight Infants at 3 Years
Author
Taketoshi Yoshida1) Akiko Hiraiwa2) Keijiro Ibuki1) Masami Makimoto1) Satomi Inomata1) Kentaro Tamura1) Yukako Kawasaki1) Sayaka Ozawa2) Keiichi Hirono2) and Fukiko Ichida2)
1)Division of Neonatology, Maternal and Perinatal Center, Toyama University Hospital
2)Department of Pediatrics, Toyama University
Abstract
Aim: This study aimed to compare the neurological development among pediatric patients with congenital heart diseases (CHD) after surgical intervention, very low birth weight (VLBW), and healthy controls at 3 years.
Subjects and Methods: We enrolled pediatric patients with CHD (n=67), VLBW (n=67), and healthy controls (n=81) and categorized CHD infants into single and two ventricles groups and VLBW infants into 1,000-1,499 g and < 1,000 g groups on the basis of their birth weights. We then evaluated the infants' neurodevelopmental outcomes at 3 years using the Bayley Scales of Infant and Toddler Development (Bayley-III). Furthermore, we assessed and compared outcomes between the CHD and VLBW groups.
Results: Compared with healthy controls, a significant decline in language, cognition, and motor skills scores were observed in CHD and VLBW infants. In particular, infants with a single ventricle exhibited significantly low scores of language and gross motor skills. No statistically significant difference was observed between 1,000-1,499 g and < 1,000 g groups.
Conclusion: Neurodevelopmental outcomes of infants with CHD after surgical intervention and VLBW infants at 3 years were impaired. In particular, neurodevelopmental delays in infants with a single ventricle were remarkable. Thus, because both CHD and VLBW infants are at high risk for neurodevelopmental disorders, periodic developmental screening and support are warranted for these children.
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Original Article
Title
Coronary Artery Dilatation before Treatment in a Patient with Kawasaki Disease and the Risk Factor of Coronary Artery Aneurysm
Author
Shigeto Fuse Toshihiko Mori Yuki Kuroiwa Satoshi Hirakawa Tomomi Jitsukawa and Eri Nishino
Department of Pediatrics, NTT Sapporo Medical Center
Abstract
Background. It is thought that a major risk factor for the coronary arterial sequelae of Kawasaki disease is absence of response to immunoglobulin treatment. However, coronary arterial dilatation may already be seen before the treatment. The coronary arterial dilatation before the treatment will also be a risk factor for coronary arterial sequelae.
Subjects and Methods. From 2005 to 2016, 436 patients (male 246, female 190) with Kawasaki disease were admitted to our hospital, with an age range of 0.2 to 13.8 years (median 2.2). The diameter of the right coronary artery, left main coronary artery, left anterior descending artery and left circumflex artery were measured by echocardiography, each Z score was calculated, and the maximum value was defined as Zmax. We defined Zmax before treatment as preZmax, Zmax after treatment as poZmax, and Zmax 2.0 or more as coronary arterial dilatation. We investigated whether preZmax 2.0 is a risk factor for patients with poZmax 2.0.
Results. PreZmax ranged from -1.6 to 8.3 (median, 1.1, interquartile range [IQR], 0.4-1.9) and poZmax from -2.1 to 7.0 (median, 0.3, IQR, -0.2-0.7). Zmax decreased significantly after treatment. When considering the risk factor of the occurrence of a poZmax of 2.0 or more by sex, age, CRP value, treatment initiation day, Gunma score and preZmax 2.0 or more, and male sex, a Gunma score of 8 points or more and preZmax of 2.0 or more, became risk factor candidates.
Gender and Gunma score were corrected, and preZmax 2.0 or more was considered to be a risk factor of poZmax 2.0 or more. (odds ratio 18.8, 95%CI 4.07-86.9, p=0.00017).
Conclusion. In the patients in whom coronary arterial dilatation has already initiated before the treatment, the risk of coronary sequelae is high.
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Case Report
Title
An Infant Case of Abdominal Compartment Syndrome Associated with Gastrointestinal Food Allergy
Author
Shuhei Fujino1) Hidehiko Maruyama1) Shoichiro Amari1) Hideshi Fujinaga1) Yuka Wada1) Junko Nagasawa1) Keiko Tsukamoto1) Hiroki Arisato1)2) Yumiko Miyaji3) Ichiro Nomura3) and Yushi Ito1)
1)Division of Neonatology, National Center for Child Health and Development
2)Department of Postgraduate Education and Training, National Center for Child Health and Development
3)Division of Allergy, National Center for Child Health and Development
Abstract
Introduction: We report a case of abdominal compartment syndrome (ACS) caused by a Clostridium infection associated with infantile gastrointestinal food allergy (GI allergy).
Case report: The patient, a 3-month old girl, was born at 32-weeks of gestational age weighing 1,068 g. She had a history of surgical repair for myelomeningocele and a total anomalous pulmonary venous connection and an ileostomy for segmental dilatation of the intestine. At 111 days of age, vomiting and abdominal distension developed. Elevated CRP, pneumatosis intestinalis, and Clostridium species in the blood and ascites culture were detected. Clostridium infection was diagnosed. On the next day, oliguria and respiratory distress also developed. Abdominal ultrasonography disclosed intestinal blood flow reversal. An increased intraabdominal pressure of 15 mmHg (reference, ≤ 10 mmHg) was noted and ACS was diagnosed. We performed a decompressive laparotomy, and the symptoms and blood flow reversal improved. We found eosinophilic infiltration in the pathology of the small intestine prior to the occurrence of ACS. GI allergy was diagnosed as the background. Elemental formula feeding prevented a recurrence of the symptoms.
Discussion: GI allergy should be considered whenever severe intestinal infections are encountered in infants. Findings of intestinal blood flow reversal by abdominal ultrasonography may assist in the diagnosis of ACS.
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Case Report
Title
A Case of Infective Endocarditis During Orthodontic Treatment 14 Years after Surgery for a Ventricular Septal Defect
Author
Tasuku Tamai1) Masahiro Takeguchi2) Yosuke Handa2) Hiroaki Miyahara2) Shuji Kuga2) Takashi Shuto3) and Kenji Ihara2)
1)Department of Pediatrics, Kitsuki City Yamaga Hospital
2)Department of Pediatrics, Oita University Faculty of Medicine
3)Department of Cardiovascular Surgery, Oita University Faculty of Medicine
Abstract
Patients with completely repaired ventricular septal defect (VSD) are supposed to be at a low risk for infective endocarditis (IE). We herein report a boy who suffered from IE 14 years after surgery for VSD. He had undergone surgical closure of a VSD at 18 months of age and had been observed regularly. He had undergone orthodontic treatment from 13 years and 6 months of age.
At 15 years of age, he suffered from a high-grade fever, and was finally diagnosed with IE. Penicillin-sensitive Staphylococcus aureus was detected from vegetation on the right ventricular wall. We suspected that insufficient oral hygiene with orthodontic devices and turbulent blood flow due to postoperative pulmonary valve regurgitation had damaged the endothelium on the prosthetic patch and induced bacterial susceptibility, which might have synergistically contributed to the pathogenesis of IE.
Even in low-risk patients, we should consider IE as a differential diagnosis for a fever of unknown origin or severe bacterial infection in patients who have undergone surgery for VSD. Careful investigation of the surgical history and the post-surgical cardiac state as well as an assessment of dental hygiene, including orthodontics, are particularly important for making an early diagnosis of IE and preventing its occurrence.
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Case Report
Title
Sibling Cases of Immunodeficiency-centromeric Instability-facial Anomalies Syndrome Misdiagnosed as Having IgA and IgG Subclass Deficiency
Author
Aoi Honma1) Hirokazu Kanegane2) Haruka Hiroki2) Tsubasa Okano2) Kay Tanita2) Kohsuke Imai3) Masatoshi Takagi3) Akimitsu Watanabe1) Seiichi Watanabe1) and Tomohiro Morio2)
1)Department of Pediatrics, Tsuchiura Kyodo General Hospital
2)Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University
3)Department of Community Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University
Abstract
Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare primary immunodeficiency diseases (PID) with autosomal recessive trait, and it is characterized by a triad of immunoglobulin deficiency, chromosomal abnormalities, and facial dysmorphism. IgA and IgG subclass deficiency is a PID with antibody deficiencies, and most of the patients have no residual genetic defects. Here we describe sibling cases of ICF syndrome followed as IgA and IgG subclass deficiency for a long time. The patients had recurrent infections since early childhood, and revealed decreased levels of serum IgA and IgG2. They have been treated with immunoglobulin replacement therapy for 20 years. Whole exome sequencing (WES) revealed homozygous mutation in the DNMT3B gene in both patients. Chromosomal analysis showed centromeric instability. Therefore, the patients were considered to have ICF1 syndrome. However, they have minimal facial dysmorphism. Some patients with ICF syndrome may not have characteristic facial dysmorophism, as in these patients. Patients with IgA and IgG subclass deficiency may have ICF syndrome, and chromosomal analysis should be performed. Therefore, WES could be useful to identify ICF syndrome.
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Case Report
Title
A Girl with Ornithine Transcarbamylase Deficiency due to Maternal Germinal Mosaicism
Author
Sakie Emi Okazaki1) Hiroshi Tateishi1) Keiichi Hara2) Go Tajima3) and Masashi Uchida1)
1)Department of Pediatrics, JCHO Tokuyama Central Hospital
2)Department of Pediatrics, National Hospital Organization Kure Medical Center and Chugoku Cancer Center
3)Department of MassScreenig, National Center for Child Health and Development
Abstract
We report on a 3-year-old girl with an ornithine transcarbamylase (OTC) deficiency, attributed to maternal germinal mosaicism. The patient presented with vomiting, irritability, and lethargy. Her older brother died of OTC deficiency as a neonate, and familial genetic analysis concluded he was hemizygous, with a de novo variant of the OTC gene. The patient's blood tests revealed elevated liver enzymes and mild hyperammonemia, and genetically, she was heterozygous with the same variant allele. These findings indicated that the mother harbored the mosaic genetic variant in her germ cells. Heterozygous female patients with OTC deficiencies can present with acute exacerbations that are difficult to predict. Consequently, accurate diagnosis, including thorough evaluation of family history, is important for preventing catastrophic outcomes.
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Case Report
Title
A Case of Chronic Diarrhea and Multiple Diverticula Associated with Multiple Endocrine Neoplasia Type 2B (MEN 2B)
Author
Emiri Kaji1) Atsushi Yoden1) Masano Akamatsu1) Takeru Okuhira1) Keisuke Inoue2) Tomoki Aomatsu1) and Hiroshi Tamai1)
1)Department of Pediatrics, Osaka Medical College
2)Hirakata City Hospital
Abstract
This is a case report about a 12-year-old girl with chronic diarrhea. She was referred as a Crohn disease patient from another hospital at the age of 7. However, she was resistant to conventional Crohn's disease therapy. At the age of 12, we diagnosed multiple endocrine neoplasia type 2B (MEN 2B) using thyroid ultrasound examination. In this case, she had chronic diarrhea and multiple diverticula, and had a characteristic facial appearance. MEN 2B is characterized by: medullary thyroid carcinoma, pheochromocytoma, mucosal neuromas, ganglioneuromas of the intestinal tract, multiple diverticulum, Marfan-like habitus and chronic diarrhea or chronic constipation. If we had recognized MEN 2B as chronic diarrhea, multiple diverticulum and its characteristic appearances, we would have been able to diagnose it sooner.
As far as we know MEN 2B is not described in most pediatric textbooks in the differential disease of refractory diarrhea, and as a result, it took time to diagnose. MEN 2B is a rare disease that occurs during childhood. It is important that pediatricians who see patients with MEN 2B recognize the characteristics and symptoms associated with the disease. Patients who do not undergo thyroidectomy at an early age are likely to develop highly aggressive metastatic medullary thyroid carcinoma. It is necessary for us as pediatricians to understand about this disease.
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Case Report
Title
A Case of Congenital Syphilis in which the Maternal Serologic Test for Syphilis was Negative in the Early Pregnancy Period
Author
Hiroki Takehara Akiko Kinumaki Yoko Hirano and Yoshiyuki Namai
Department of Pediatrics, Ohta-Nishinouchi Hospital
Abstract
We report a typical case of congenital syphilis which was difficult to diagnose since the maternal serologic test for syphilis was negative during early pregnancy. The mother was a 27-year-old woman (gravida 1; para 1). At 13 weeks of pregnancy, the Rapid Plasma Reagin (RPR) test and the Treponema pallidum (TP) antibody test were negative. The patient was born by vaginal delivery at 36 weeks gestation with a birthweight of 2,120 g. At her one-month health check, she presented with poor weight gain, lethargy and low muscle tone. Treatment with ampicillin and cefotaxime was commenced due to suspected severe infection. Rapid plasma reagin tests at 8 days post admission in the infant and at 13 days in the mother were positive, and subsequently the diagnosis of congenital syphilis was confirmed. The patient was further treated with 14 days of penicillin G. In Japan, when the maternal screening test for syphilis is negative during early pregnancy and infection occurs after the test, there is the possibility that she is not treated. It is important to acquire further knowledge regarding typical symptoms and treatment courses of congenital syphilis, as it is expected that we will encounter more cases in the future. Furthermore, it is necessary to follow the long-term prognosis of congenital syphilis.
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Case Report
Title
A Two-year-old Boy with Acute Pancreatitis Associated with Rotavirus Gastroenteritis
Author
Keigo Nishida Shuhei Fujita Takeshi Futatani Noboru Igarashi and Kiyoshi Hatasaki
Department of Pediatrics, Toyama Prefectural Central Hospital
Abstract
A 2-year-old boy presented with fever, diarrhea, and vomiting for 2 days. His stool sample was positive for rotavirus antigen. Therefore, we diagnosed rotavirus gastroenteritis and treated with hydration. On the 5th day of illness (DOI), he improved. However, on the 6th DOI, he experienced abdominal pain and vomiting with abdominal distention and poor intestinal peristalsis. The next day, administration of antibacterial agents and pantothenic acid was started, with nothing by mouth due to paralytic ileus. On the 9th DOI, pancreatic enzymes were elevated: amylase was 291 U/L (Pancreas 92%, Salivary 8%); lipase was 507 U/L; and esterase was 5,433 U/L. In addition, dynamic computed tomography identified pancreatic enlargement. Accordingly, he was diagnosed with acute pancreatitis and received Nafamostat mesilate and Ulinastatin. To improve intestinal peristalsis, on the 13th DOI prostaglandin E2 was administered. His condition gradually improved, and he was permitted to eat and drink. Abdominal pain and vomiting did not reoccur, and he was discharged on the 23rd DOI. The highest levels of amylase, lipase, and esterase were 340 U/L, 507 U/L, and 6,985 U/L, respectively. On the 33rd DOI, the finding of pancreatitis was normalized.
When severe abdominal pain with abdominal distention is observed during the course of rotavirus gastroenteritis, pancreatitis must be considered.
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