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THE JOURNAL OF THE JAPAN PEDIATRIC SOCIETY

Vol.117, No.3, March 2013


1. Endocrinological Aspects of Four Cases of Childhood-onset Intestinal Failure Receiving Long-term Parenteral Nutrition
2. A Retrospective Study of Antibody Response to Phase 2 Measles-rubella Vaccination
3. Prevalence and Natural History of Ventricular Septal Defects Detected in the Early Neonatal Period
4. Noninvasive Ventilation for Acute Respiratory Failure in Patients with Severe Motor and Intellectual Disabilities
5. A Case of Early Diagnosis of Carnitine Acylcarnitine Translocase Deficiency by Tandem-mass Spectrometry
6. A Pediatric Case of Adenovirus Encephalopathy Successfull Treated with Multimodality Therapy
7. Sequential MRI Changes in Inflicted Traumatic Brain Injury: A Case Report


Original Article
Title
Endocrinological Aspects of Four Cases of Childhood-onset Intestinal Failure Receiving Long-term Parenteral Nutrition
Author
Masahiro Goto Noriko Nishina and Yukihiro Hasegawa
Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center
Abstract
Although improved management of parenteral nutrition (PN) has enabled us to rescue adults with intestinal failure (IF), there are still few survivors of childhood-onset IF because of the difficulty in managing problems of nutrition or infection during infancy. We investigated the current status of height, nutrition, intestinal absorption, and endocrinological data in 4 cases of childhood-onset IF receiving long-term PN, and reviewed their growth, bone metabolism, and gonadal function. The study included 4 cases (1 boy and 3 girls) of childhood-onset IF with ages ranging from 7 to 23 years (1 with long segment Hirschsprung disease, 1 with chronic intestinal pseudo-obstruction, and 2 with short bowel syndrome). The ages at PN onset ranged from 0 to 7 years. The PN duration ranged from 7 to 23 years. Their current supply of PN remained at 760-1,532 kcal/day, which was equivalent to 51%-71% of individual daily nutritional requirements. All the subjects continued oral nutrition. Their height SD score ranged from -3.3 to 0.8, indicating that a short stature is not inevitable in these subjects. All 4 cases showed reduced lumbar spine bone mineral density (z-score ranging from -4 to -2.2 SD), and this may be related to vitamin D deficiency in 2 subjects. Secondary amenorrhea and delayed puberty, observed in 2 older girls, were suggested to be caused by malnutrition and were proven to be reversible with weight gain.




Original Article
Title
A Retrospective Study of Antibody Response to Phase 2 Measles-rubella Vaccination
Author
Naoko Nishimura Takao Ozaki Kensei Gotoh Suguru Takeuchi Fumihiko Hattori Kazuhiro Horiba Mai Isaji Yu Okai Yasunori Ohshima Haruki Hosono and Koji Takemoto
Department of Pediatrics, Konan Kosei Hospital
Abstract
We investigated the usefulness of the present 2-phase measles-rubella (MR) vaccination schedule through a retrospective study of antibody levels in children following Phase 2 MR vaccination. Of the 78 children given their Phase 2 MR vaccination between April 2006 and October 2007 at our Vaccination Outpatient Department, in whom antibody titers were measured before and (4-6 weeks) after vaccination, we enrolled 31 children from whose guardians we obtained consent for participation in this study. We collected further serum samples between May and August 2010, and measured the measles antibody titer using the neutralization test (NT) and hemagglutination inhibition (HI) methods, and rubella antibody titer using the HI method. The mean time elapsed after vaccination was 40.1±3.6 months (range 34-46 months), and no subjects developed either measles or rubella during the interval. The positive serology rates were 100% (31/31) for measles NT antibodies (titer≥2), 90% (28/31) for measles HI antibodies (titer≥8), and 100% (31/31) for rubella HI antibodies (titer≥8). The measles NT antibody titer was ≥4, the level considered to protect against infection, in 97% of the subjects (30/31). The mean antibody titers (2n) pre-vaccination, post-vaccination (4-6 weeks), and for this study were 5.3, 6.7, and 5.3 for measles NT antibodies; 5.0, 6.4, and 4.7 for measles HI antibodies; and 5.6, 7.4, and 5.5 for rubella HI antibodies. All mean antibody titers increased significantly following Phase 2 MR vaccination (p<0.01), but had fallen to pre-vaccination levels after 3-4 years. These results show that the supplemental immune response obtained with Phase 2 MR vaccination is limited.




Original Article
Title
Prevalence and Natural History of Ventricular Septal Defects Detected in the Early Neonatal Period
Author
Takamichi Ishikawa and Satoru Iwashima
Department of Pediatrics, Hamamatsu University School of Medicine
Abstract
[Objective] Few studies have assessed the prevalence of ventricular septal defects (VSD) diagnosed by echocardiography in the early neonatal period and have followed up the newborns with VSD. This study prospectively evaluated the prevalence and natural history of VSD detected using echocardiographic screening in the early neonatal period.
[Methods] A cohort screening study was conducted in an unselected series of all live birth newborns. Two-dimensional and color Doppler echocardiography was performed at 0 to 4 days of life in 2,501 consecutive neonates born in our department in Japan between May 2005 and October 2010.
[Results] There were 61 cases of VSD among the 2,501 live births. The prevalence of VSD in this series was 24.4 per 1,000 live births. There were 35 muscular VSD, 25 membranous VSD, and 1 infundibular VSD. Spontaneous closure was observed in 34 (27 muscular VSD; 7 membranous VSD) of the 61 newborns with VSD. The spontaneous closure rates were as follows: muscular VSD 75.0%; membranous VSD 29.2%. The size of the VSD in the persistent defect group was statistically significantly larger than that in the spontaneous closure group. Moreover, the frequency of cardiac murmur and chromosomal abnormality was lower in patients whose VSD closed spontaneously than in patients whose VSD persisted.
[Conclusion] This prospective study using echocardiography for all neonates showed a higher prevalence of VSD than that reported in previous studies. Moreover, this study indicated that VSD without cardiac murmur in the early neonatal period showed a higher frequency of spontaneous closure than VSD with cardiac murmur.




Original Article
Title
Noninvasive Ventilation for Acute Respiratory Failure in Patients with Severe Motor and Intellectual Disabilities
Author
Hideki Shimomura1)2) Tomoko Miyajima1) Tomohiro Kumada1) Keiko Saito1) Naomi Mito1) Rie Kawakita1) Takashi Kusunoki1) and Tatsuya Fujii1)
1)Department of Pediatrics, Shiga Medical Center for Children
2)Department of Pediatrics, Hyogo College of Medicine
Abstract
Noninvasive ventilation (NIV) is a mechanical ventilation system that does not involve invasive devices such as endotracheal tubes. Patients with severe motor and intellectual disabilities often develop complications such as aspiration, limitation of chest cage movement, or central hypoventilation; therefore, they easily develop acute respiratory failure due to respiratory infections, requiringe endotracheal intubation. However, endotracheal intubation may cause oral or tracheal trauma and accidental extubation complications. We investigated the efficacy of NIV on acute respiratory failure in patients with severe motor and intellectual disabilities. Between January and November 2010, 14 patients with acute respiratory failure were placed on NIV in our hospital. The causes of respiratory failure were pneumonia in 5 patients, bronchitis in 5 patients, bronchial asthma in 1 patient, and decreased respiratory function due to sedative drugs in 3 patients. Patients with chronic respiratory failure who used NIV daily were excluded. We retrospectively investigated heart rate (HR), respiratory rate (RR), carbon dioxide partial pressure (PCO2), percutaneous arterial oxygen saturation (SPO2), and signs of labored breathing before and 1 hour after NIV. Thirteen (92.9%) of the 14 patients showed efficacy 1 hour after NIV; HR decreased in 13 of 14 patients, RR decreased in 6 of 11 patients, PCO2 decreased in 7 of 7 patients, and SPO2 improved in 11 of 14 patients. However, 4 (28.6%) of the 14 patients eventually required endotracheal intubation. No major complications developed during NIV. NIV is thought to be a useful procedure to avoid endotracheal intubation in cases of respiratory failure in patients with severe motor and intellectual disabilities.




Original Article
Title
A Case of Early Diagnosis of Carnitine Acylcarnitine Translocase Deficiency by Tandem-mass Spectrometry
Author
Minako Sugiyama1) Mitsuru Kubota2) Gaku Izumi1) Shinichi Fujiwara1) Takayuki Okamoto1) Kimiaki Uetake1) and Yoshinori Matsumoto1)
1)Department of Pediatrics, Obihiro-Kosei General Hospital
2)Department of Pediatrics, Teine Keijinkai Hospital
Abstract
We report the case of a boy, born at 35 weeks gestation. He was transferred to our NICU, and feeding was started on the second day of life. However, on the third day, the boy developed cardiorespiratory failure with hypoglycemia. He was intubated and treated with intravenous glucose.
Acylcarnitine analysis using tandem mass spectrometry was performed, and a fatty acid β-oxidation disorder such as carnitine palmitoyltransferase 2 (CPT2) or carnitine acylcarnitine translocase (CACT) deficiency was suspected. After frequent feeding of medium-chain triglycerides formula and carnitine supplementation, his general condition improved progressively. He was discharged after 3 months.
At 1.5 years of age, the patient was followed up and was confirmed to have CACT deficiency by genetic mutation analysis.
He also had mental retardation. Although the patient died of Reye's syndrome following RS infection, he was diagnosed with CACT deficiency at an early stage of life by tandem- mass spectrometry.
Carnitine cycle disorders are rare, but early diagnosis will lead to early therapy. It is anticipated that acylcarnitine analysis using tandem-mass spectrometry will gain importance in Japan.




Original Article
Title
A Pediatric Case of Adenovirus Encephalopathy Successfull Treated with Multimodality Therapy
Author
Aya Mihara1) Takeshi Taketani1)2) Jun Mine1) Kazuko Kishi1) Hironori Kobayashi1) Takashi Ichiyama3) and Seiji Yamaguchi1)
1)Department of Pediatrics, Shimane University School of Medicine
2)Division of Blood Transfusion, Shimane University Hospital
3)Department of Pediatrics, Yamaguchi University School of Medicine
Abstract
The pathogenesis and clinical features of adenovirus encephalopathy remain unknown because of the rarity of this disease. We encountered a 28-month-old boy who presented with fever, diarrhea, and abdominal pain. Seven days after onset, consciousness disturbance and hypotonia appeared, and diffuse high-amplitude slow waves were recorded on an electroencephalogram. Cerebrospinal fluid (CSF) examination showed elevated levels of the cytokines TNF-α, IL-2, IL-6, IL-10, and IFN-γ, but without an accompanying increase in the CSF cell count. Brain scans using computed tomography and magnetic resonance imaging revealed no abnormal findings. The detection of adenovirus DNA in the stool, but not in the CSF, confirmed the presence of adenovirus infection, resulting in a diagnosis of adenovirus encephalopathy. The patient was successfully treated with steroid pulse therapy, high-dose intravenous immunoglobulin, and induction of therapeutic hypothermia. Although there were no neurological sequelae, phenobarbital-associated eruption and cerebral salt wasting syndrome appeared as post-treatment complications. After reviewing previous case reports and reviewing the present case, the clinical characteristics of patients with adenovirus encephalopathy were considered to be 1) disturbance of consciousness or convulsion occurring in early childhood several days after the appearance of respiratory or gastrointestinal manifestations, and 2) the absence of abnormal findings on brain imaging tests and CSF examinations.




Original Article
Title
Sequential MRI Changes in Inflicted Traumatic Brain Injury: A Case Report
Author
Jun Sawai Tetsuo Kubota Tatsuya Fukasawa Shinsuke Kataoka Masaharu Tanaka Hiroyuki Yamada Erina Kitamura Yoko Shibata Chihiro Hatano Fumiko Miyazaki Sachie Ito Kajiyo Kuchiwaki Kaname Matsusawa Miyuki Magota Koji Takemoto Yuichi Kato Yuji Miyajima Akimasa Ogawa and Kuniyoshi Kuno
Department of Pediatrics, Anjo Kosei Hospital
Abstract
Inflicted traumatic brain injury (ITBI), as represented by shaken baby syndrome, has a high mortality and morbidity and a poor neurological prognosis. Definitive diagnosis is very difficult because of its nonspecific symptoms without external signs of trauma. Brain MRI, particulary diffusion-weighted imaging (DWI), has recently been shown to be useful for detecting and confirming ITBI, and understanding its pathology. We performed sequential MRI from the early stage of injury up to 1 month in a male infant who was suspected of having suffered abuse. MRI showed diffuse subcortical and partial white matter high intensity on day 2, diffuse cortical high intensity on day 4, and eventual diffuse intraparenchymal liquefaction. This progression of imaging changes reflected primary traumatic brain damage and secondary hypoxemic brain injury. DWI was useful for understanding the clinical condition of the present case and is a possible method for detecting the early stage of ITBI.




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