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THE JOURNAL OF THE JAPAN PEDIATRIC SOCIETY
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Vol.124, No.1, January 2020
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Original Article
Title
Renal Ultrasonography at Intervals from Febrile Urinary Tract Infection Plays an Important Role in Screening for Congenital Anomalies of Kidney and Urinary Tract among Children
Author
Naoaki Mikami1) Riku Hamada1) Wataru Kubota1)3) Chikako Terano1) Ryoko Harada1) Hiroshi Sakakibara2) Toshiro Terakawa4) Hiroshi Hataya1)2) and Masataka Honda1)
1)Department of Nephrology, Tokyo Metropolitan Children's Medical Center
2)Department of General Pediatrics, Tokyo Metropolitan Children's Medical Center
3)Hikari Kids & Family Clinic
4)Department of Pediatrics, Tokyo Metropolitan Fuchu Medical Center for the Disabled
Abstract
[Background] Patients with hypoplastic and dysplastic kidney (HDK) often suffer from febrile urinary tract infection (fUTI). Renal ultrasonography (RUS) is important for not only determining the surgical intervention but also screening for HDK among children with fUTI. However, renal swelling in the acute phase of fUTI could interfere with precise assessment. [Methods] We reviewed the data of children with fUTI of first episode recorded from October 2012 to March 2015 who had undergone both RUS in the acute phase and nucleolus scanning in the distant phase. HDK was defined according to nuclear scanning or RUS in the distant phase. [Outcome] There were 4 patients with HDK among 28 children with fUTI. Although there were bilateral differences in the RUS in the acute phase among 5 patients, only 2 patients were diagnosed with HDK definitely. [Discussion] RUS performed in the acute phase highly misses HDK due to the swelling of HDK. On the other hand, RUS performed in the distant phase is better for HDK screening as it shows high correlation with nuclear scanning. Therefore, RUS performed in the distant phase is the best tool for HDK screening due to its less invasiveness than nuclear scanning.
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Original Article
Title
Clinical and Mutation Analysis of 9 Japanese Patients with Mucolipidosis II Alpha/Beta and III Alpha/Beta
Author
Yasuyuki Fukuhara1) Narutoshi Yamazaki1) Tetsumin So2) Motomichi Kosuga1)3) and Torayuki Okuyama3)
1)Division of Medical Genetics, National Center for Child Health and Development
2)Division of Critical Care Medicine, National Center for Child Health and Development
3)Department of Clinical Laboratory Medicine, National Center for Child Health and Development
Abstract
Mucolipidosis II alpha/beta and III alpha/beta (ML II and ML III) are autosomal recessive disorders caused due to defects in the α and/or the β subunits of N-acetylglucosamine-1-phosphotransferase, which are encoded by a single gene, GNPTAB. Herein, we describe and analyze the detailed clinical phenotype and mutation spectrum of 9 Japanese patients with ML II and III. We identified 10 different GNPTAB gene mutations, including 3 novel mutations (p.L380S, p.C519S, and c.3316_17delAA). The 18 alleles from our 9 patients consisted of 6 missense mutations (33%), 6 nonsense mutations (33%), 4 frameshift mutations (22%), 1 splice site error (6%), and 1 unknown mutation (6%). Missense mutations were found more frequently in our patients than in the previous Japanese report. The most common mutations were p.Q104* (3/18 = 16.7%), p.F374L (3/18), and p.R1189X* (3/18). Truncating mutations in both alleles lead to the severe phenotype. Missense mutations in one or both alleles lead to the attenuated phenotype. Therefore, we conclude that the genetic test was helpful in making the definitive diagnosis and the estimation of the clinical course.
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Case Report
Title
A Girl with Congenital Pulmonary Airway Malformation Type 0
Author
Keita Morioka Naoya Kaneko Takeru Gotou Nobuhiro Takahashi and Hidefumi Tonoki
Maternity and Perinatal Care Center, Tenshi Hospital
Abstract
Pulmonary hypoplasia is a common cause of respiratory distress and accounts for a significant mortality rate among affected newborns. Congenital pulmonary airway malformation (CPAM) type 0 was previously termed as acinar dysplasia and is a rare cause of primary pulmonary hypoplasia. We report a case of a patient with respiratory distress that developed immediately after birth, which was not improved by intensive care. Autopsy revealed pulmonary hypoplasia that was histologically consistent with CPAM type 0. Based on the reported cases, the majority of patients have died within hours or days of birth from respiratory failure. CPAM type 0 has a tendency to recur in families; however, the actual risk has not been assessed because of the rarity of the disease. To our knowledge, our report represents the first description of CPAM type 0 in Japan.
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Case Report
Title
Aberrant Right Subclavian Artery Discovered by Esophageal Food Impaction in an Infant: A Case Report
Author
Kazuhiro Yamamoto1) Tomomi Hasegawa1)2) Yuki Nagai1) Yusuke Seino1) Kazunori Aoki1) and Hiroshi Kurosawa1)
1)Department of Pediatric Critical Care Medicine, Hyogo Prefectural Kobe Children's Hospital
2)Department of Cardiovascular Surgery, Hyogo Prefectural Kobe Children's Hospital
Abstract
Extrinsic esophageal compression from an aberrant subclavian artery causes swallowing impairment, which is known as dysphagia lusoria. Herein, we report a rare case of an aberrant right subclavian artery in an infant discovered during emergency medical care for esophageal food impaction.
A 15-month-old, otherwise healthy, infant was referred to the emergency department with presentations of acute respiratory distress, drooling, and vomiting after ingesting an apple. Upper endoscopy revealed a piece of apple stuck in the esophagus and signs of extrinsic esophageal compression, suggestive of an aberrant vessel. A subsequent contrast-enhanced computed tomography scan was performed that confirmed an aberrant right subclavian artery compressing the posterior aspect of the esophagus. The infant underwent surgical treatment for esophageal compression relief, consisting of translocation of the aberrant right subclavian artery to the right carotid artery. The postoperative course was uneventful, and at the 12-month follow-up, the patient exhibited no signs of dysphagia.
This case highlights the need to consider a rare cause such as an aberrant right subclavian artery when confronted with cases of pediatric emergency of esophageal food impaction.
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Case Report
Title
A 15-year-old Girl Case with Various Higher Brain Dysfunctions due to Mycoplasma pneumoniae Encephalitis
Author
Wakana Maki1) Takayuki Mori1) Yu Kakimoto1) Satoshi Takenaka1) Mariko Kasai1) Konomi Shimoda1) Atsushi Sato1) Akira Oka1) Hiroshi Sakuma2) and Masashi Mizuguchi3)
1)Department of Pediatrics, the University of Tokyo Hospital
2)Developmental Neuroimmunology Project, Tokyo Metropolitan Institute of Medical Science
3)Department of Developmental Medical Sciences, Graduate School of Medicine, the University of Tokyo
Abstract
Few cases of Mycoplasma pneumoniae encephalitis previously reported in Japan had either abnormal neuroimaging findings or complications. Only a few cases had reported slight abnormal neuroimaging and complications. We report here a 15-year-old girl with severe M. pneumoniae encephalitis. She initially had a cough and fever and was diagnosed with M. pneumonia. After 10 days, her mental status was altered. Cranial magnetic resonance imaging showed lesions in the splenium of corpus callosum and white matter of occipital lobes. The recovery of consciousness was followed by prominent symptoms of higher brain dysfunction. For example, she could neither remember her conversation with somebody else nor count the number of persons in the room correctly. The left arm moved unintentionally while trying to use the right arm. We evaluated these symptoms as cognitive dysfunction, visual agnosia, and antagonistic apraxia, which corresponded to the topography of brain lesions. Many of the lesions remained in spite of corticosteroid pulse and intravenous immunoglobulin therapy.
In the cerebrospinal fluid, we detected neither anti-galactocerebroside and other autoantibodies nor Mycoplasma genome. However, the levels of some pro-inflammatory cytokines/chemokines, such as interleukin-6, were high, which might be related to the severity of this case.
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Case Report
Title
Dealing with a Boy with Higher Brain Dysfunction after a Traffic Accident Developing with Writing Disability of Kanji
Author
Miho Fukui1)4) Shuichi Shimakawa1) Mari Toshikawa1) Mika Otsuki2) Eiji Wakamiya3) and Hiroshi Tamai4)
1)Department of Pediatrics, Osaka Medical College
2)Graduate School of Health Sciences, Hokkaido University
3)Department of Nursing, Faculty of Nursing and Rehabilitations, Aino University
4)Institute for Developmental Brain Research, Osaka Medical College
Abstract
The importance of returning to school and the need for support to accomplish this transition are well described. Herein, we report a case of a 9-year-old male who sustained a traumatic brain injury during a motor vehicle accident at the age of 6 years. The physical sequelae of this injury included partial damage to the right frontal-parietal lobe and the left frontal lobe, the right enophthalmos, the left hemiplegia and loss of vision in the right eye. Post-morbidly, he exhibited learning difficulties and complained of being unable to write kanji characters upon his return to school a year later. His intelligence test results were within normal limits, and it was unlikely that dysgraphia was reflective of his reading and writing abilities. He was ultimately diagnosed with a visual perceptual disorder based on the results of his visual perception/visual cognition test and the Das-Naglieri cognitive assessment system (DN-CAS). These factors were believed to have contributed to his writing difficulties. We were able to communicate recommended educational support to the school, and his learning difficulties have fortunately improved since that time. This case underscores the importance of diagnosing higher brain dysfunction and supporting patients with pediatric traumatic brain dysfunction as they return to school.
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Case Report
Title
Continuous Positive Airway Pressure for Three Patients with Prader-Willi Syndrome Complicated with Sleep-Disordered Breathing
Author
Kei Komiya Toru Momoi Shinsuke Mizuno Koji Yokoyama Shigeto Hara Mitsukazu Mamada Keigo Hamahata and Akira Yoshida
Department of Pediatric, Japanese Red Cross Wakayama Medical Center
Abstract
We report about three patients with Prader-Willi syndrome (PWS) with sleep-disordered breathing (SOB) who were treated with continuous positive airway pressure (CPAP).
A male infant who had been treated with growth hormone since the age of 3 years was referred to us due to sleep apnea, frequent awakening during sleep at night, and nocturnal pollakisuria at the age of 3 years and 7 months. He was diagnosed with severe central sleep apnea (CSA) with the aid of polysomnography (PSG). An adolescent girl aged 15 years was admitted to our hospital due to severe obesity [body mass index (BMI) 59.1] and sleep disturbance. She was diagnosed with severe obstructive sleep apnea (OSA). An adult female aged 30 years was admitted to the intensive care unit due to anasarca. She was diagnosed with severe OSA and right-sided heart failure due to rapid increment of weight and severe obesity (BMI 51.9). All these three patients had been diagnosed with PWS due to deletion of paternal alleles detected by the fluorescence in situ hybridization method at an early infancy. CPAP was initiated at night in each patient and continued for up to 3 to 9 years without any complications. CPAP is an effective treatment for both OSA and CSA in patients with PWS, resulting in significant improvement of both daytime SOB and sleepiness.
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