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THE JOURNAL OF THE JAPAN PEDIATRIC SOCIETY
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Vol.121, No.8, August 2017
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Original Article
Title
Clinical Features of the Kabuki Syndrome with Heart Disease
Author
Tomiko Toyokawa1) Noboru Inamura1) Futoshi Kayatani1) Yukiko Kawazu1) Yuji Hamamichi1)3) and Nobuhiko Okamoto2)
1)Department of Pediatric Cardiology, Osaka Medical Center and Research Institute for Maternal and Child Health
2)Department of Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health
3)Department of Cardiovascular Surgery, Sakakibara Heart Institute
Abstract
Background: In recent years, reports of the Kabuki syndrome with heart disease have increased, but the clinical course is unknown.
Purpose: The purpose of this study was to clarify clinical features of Kabuki syndrome with heart disease.
Materials and methods: We retrospectively examined the clinical records of patients with Kabuki syndrome at our hospital. We identified a total of 37 cases, 18 of which were complicated with heart disease (49%). We divided the patients into 2 groups: those with left ventricular outflow tract obstruction-related disease (LOL (+): n=12) such as the coarctation of the aorta and those with other heart disease (LOL (-): n=6).
Results: Seventeen patients were examined at hospital 0 days after birth. In addition, there were many prenatal diagnoses of LOL (+) cases, and a diagnosis was a further early stage more.
Development delay was observed as a complication in all cases. Oral surgery disease was observed in 83.1% of cases, renal disease in 61.1%, chylopoietic disease in 55.5%, and epilepsy in 5.5%. LOL (+) patients had chylopoietic disease, particularly gastroesophageal reflux, more frequently than LOL (-) patients (p< 0.05). We noted no marked difference in the rates of other complications between the two groups. With regard to the operation for heart disease, 9 LOL (+) cases and 1 LOL (-) case underwent surgery.
There was 1 fatal case in each group. All died of an infection not heart disease.
Conclusion: Kabuki syndrome shows a range of digestive organ symptoms such as gastroesophageal reflux, and many cases suffer from infection. We believe that an early diagnosis and cooperation with other clinical departments are important for treating Kabuki syndrome.
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Original Article
Title
A Retrospective Study of Management for Febrile Infants Younger than 6 Months Old in a Pediatric Emergency Department
Author
Keisuke Taku1)2) Kaoru Haro1)2) Takayuki Hoshina2) Masumi Kojiro1) and Koichi Kusuhara2)
1)Department of Pediatrics, Kitakyushu General Hospital
2)Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health
Abstract
Pediatricians tend to excessively recognize the importance of the differentiation of severe bacterial infection in febrile young infants, and to perform detailed examinations for them. In Japan, they often hospitalize them for evaluation and treatment. There was no report investigating the medical care of pediatricians to febrile infants with good general condition. In the present study, we verified the tendency of pediatricians in the management of febrile infants younger than 6 months old in our pediatric emergency department. This retrospective study involved 176 febrile infants from 1 to 5 month-old who visited the pediatric emergency department of Kitakyushu General Hospital during the year of 2014. Hospitalization rate, duration of hospitalization and the proportion of the infants fulfilling the criteria for systemic inflammatory response syndrome (SIRS) for every month of age were calculated based on a standardized case report form. In younger infants, hospitalization rate was higher, and the proportion of the hospitalized infants fulfilling the criteria for SIRS was lower. When these infants were divided into 2 groups, less than and more than 3 month-old infants, the hospitalization rate was significantly higher, and the proportion of the hospitalized infants fulfilling the criteria for SIRS was significantly lower in the former group. The present results indicated that many mildly ill, febrile younger infants who visited our pediatric emergency department were hospitalized. Although there is no guideline for the management of febrile young infants in Japan, appropriate evaluations for the differentiation of severe bacterial infection might contribute to the reduction of hospitalization of them.
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Original Article
Title
Changes in of Sudden Infant Death Syndrome Mortality in Japan
Author
Toshimasa Obonai1)2) Hiroki Goshima1) and Hiroshi Nishida2)
1)Department of Pediatrics, Tama-Hokubu Medical Center, Tokyo Metropolitan Health and Medical Treatment Corporation
2)Department of Maternal and Neonatal Medicine, Tokyo Women's Medical College
Abstract
Sudden infant death syndrome (SIDS) is a significant cause of infant death in developed countries. Owing to the effect of the "Back to sleep Campaign" the mortality of SIDS declined. Furthermore the decrease of SIDS mortality was partly an artifact that was affected by the revision of the SIDS definition. The factors that influenced SIDS mortality in Japan are unclear because there has been no investigation of annual transition of SIDS mortality in Japan. In order to reveal the influence factors, annual transition of both SIDS mortality and mortality of sudden unexpected death in infants (SUDI) that includes suffocation and has unknown causes were investigated in this study. Data for both live births and infant deaths were obtained from Vital Statistics edited by the Ministry of Health, Labor and Welfare.
Though the total infant mortality decreased constantly, the SUDI mortality exhibited almost the same level after 2004. SIDS mortality remarkably declined in 1998 by the effect of the "Back to Sleep" campaign. Though the mortality of SIDS declined constantly after revision of SIDS definition, the mortality of unknown causes increased remarkably.
The increase of mortality of cause unknown was suspected to be the result of diagnostic shift of cases that did not perform autopsy. In order to decrease the SUDI mortality, it is necessary to perform post mortem examination completely to reveal the cause and mechanisms of sudden death.
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Case Report
Title
Spontaneous Resolution of Slowly Progressive Posterior Fossa Subdural Hematoma in a Neonate: Case Report and Review of the Literature
Author
Fumiya Yamashita Toshinori Nakashima Reina Ogata Yoshihiro Sakemi Kyoko Watanabe and Hironori Yamashita
National Hospital Organization Kokura Medical Center
Abstract
Neonatal posterior fossa subdural hematoma (PFSDH) accounts for about 10% of cases of neonatal intracranial hemorrhage, and is mostly associated with birth injury. PFSDH usually requires emergency surgery immediately after birth because of rapidly progressive brain stem compression and secondary hydrocephalus. We describe a term infant with slowly progressive PFSDH with spontaneous resolution after conservative management. The infant (weight, 3.4 kg) was born through vacuum extraction at 37 weeks gestational age. He had neonatal jaundice and mild ventriculomegaly recognized with head ultrasonography at age 3 days. Although the jaundice gradually improved with phototherapy, he developed slowly progressive ventriculomegaly at age 15 days. We diagnosed PFSDH and secondary hydrocephalus with computed tomography. He had no symptoms associated with brain stem compression and remained in a stable condition without surgery. His development was normal at age 2 years; however, mild ventriculomegaly remained. There are only a few reports of neonatal PFSDH with spontaneous resolution after conservative management. Slowly progressive PFSDH in the neonatal period may be the causative factor for ventricular dilatation in childhood. It should be noted that a neonate with risk factors might have slowly progressive PFSDH without severe symptoms during several weeks after birth.
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Case Report
Title
Renal Infarction in a 12-year-old Boy with Acute Myocarditis
Author
Hiroki Kuranobu Yuichirou Hashida Shinji Sakata Youichi Mino Hiroaki Funata and Susumu Kanzaki
Division of Perinatology & Pediatrics, Faculty of Medicine, Tottori University
Abstract
Cases of thrombus in the left heart associated with myocarditis are rare. We report a case of renal infarction associated with acute myocarditis.
A 12-year-old boy lost consciousness while jogging and had a brief seizure. He was immediately transferred to our emergency room by an ambulance. A chest radiograph revealed a 55% cardiothoracic ratio and significant pulmonary congestion. Echocardiography revealed an ejection fraction of 39%, diffuse hypokinesis of the left ventricle, and significant dilation of the left atrium and pulmonary veins. We diagnosed acute myocarditis and treated with gamma-globulins and vasoactive drugs. His cardiac function gradually improved. However, he had sudden left abdominal pain on the third hospital day. We diagnosed left renal infarction by abdominal contrast-enhanced computed tomography. Immediate renal arteriography revealed occlusion of the proximal main left renal artery by a thrombus. Partial reperfusion was obtained with intra-arterial infusion of 180,000 units of urokinase; however, the thrombus could not be dissolved. Renal infarction seemed to be due to an old thrombus at another site. As a thrombus could not clearly be identified with transthoracic echocardiography, we concluded that the thrombus originated in the left atrial appendage.
This case demonstrates the need for anticoagulant prophylaxis for thrombosis in cases of myocarditis with left-side heart failure associated with significant pulmonary congestion.
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Case Report
Title
Cerebral Infarction Occurring Four Years after Contraction of Varicella
Author
Asami Okada Kazuhiro Mori Yasuhiro Onishi Keisuke Fujioka Ayumi Sasaki Miki Shono Tomomasa Terada Takashi Nagai and Miki Inoue
Department of Pediatrics, Tokushima Prefectural Central Hospital
Abstract
We encountered a rare cerebral infarction four years after varicella infection in a 12-year-old boy.
The boy suddenly lost conscious at school and developed right-side hemiplegia on the following day. Brain MRI revealed a fresh infarction in the left basal ganglia, but cerebral artery stenosis was not evident on MRA images upon admission. However, MRA images acquired 7 days later revealed long-segmental beaded stenosis in the left middle cerebral artery. PCR of the cerebrospinal fluid detected VZV DNA.
TCD showed quite weak signals in the left MCA. Pulsed Doppler ultrasonography revealed extremely decreased peak systolic velocity with a loose diastolic slope. Although edaravone, aspirin, and acyclovir for two weeks improved his symptoms, the pattern of flow in the MCA remained unchanged.
TCD usually shows accelerated systolic velocity in ischemic stroke with localized stenosis of brain vessels. The shape of the stenosis caused by VZV showed the unique pattern of the blood flow by TCD in this patient.
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Case Report
Title
Hemolytic Uremic Syndrome (HUS) Associated with Serotype O165 Shiga Toxin-Producing Escherichia Coli: Difficulty in Diagnosis and Management
Author
Yuki Ebuchi1) Junya Shimizu1) Yuki Hyodo1) Mahoko Furujo1) Toshihide Kubo1) and Shuichi Katayama2)
1)Department of Pediatrics, National Hospital Organization, Okayama Medical Center
2)Department of Pediatric Surgery, National Hospital Organization, Okayama Medical Center
Abstract
We report the case of a 1-year-old boy with Shiga toxin-producing Escherichia coli hemolytic uremic syndrome (STEC-HUS) that gave rise to difficulty in diagnosis and management. The patient was hospitalized for a triad of HUS after 5 days of diarrhea. Despite clinical suspicion of STEC-HUS, stool culture, verotoxin, and IgM antibody for O157 lipopolysaccharide were all negative. Moreover, as a family history of thrombotic microangiopathy (TMA) was suggested, thrombotic thrombocytopenic purpura (TTP) and atypical HUS could not be excluded. In combination with continuous hemodialysis (CHD), plasma exchange was performed until the normal test result for ADAMTS13 was obtained, and a single dose of eculizumab was administered. Renal function recovered and CHD was halted on day 15, while other symptoms also underwent gradual improvement. O165 STEC, which is a rare serotype, was revealed by further assay at the National Institute of Infectious Disease on day 16, and we finally diagnosed with STEC-HUS. It is necessary to establish at an early stage a valid procedure to distinguish HUS from other TMA, especially TTP and atypical HUS.
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Case Report
Title
A Pediatric Case of Miliary Tuberculosis with Multiple Central Nervous System Tuberculomas
Author
Mari Hashimoto1)2) Kazuhiro Muramatsu2) Ayano Kamio1) Tsuneo Igarashi1) and Hirokazu Arakawa2)
1)Department of Pediatrics, Takasaki General Hospital
2)Department of Pediatrics, Gunma University Hospital
Abstract
Miliary tuberculosis is a rare form of tuberculosis, often occurring in under-nourished or immunocompromised patients. Here, we report a case of intracranial tuberculomas with good neurological outcome. The patient, a 14-year-old healthy boy, presented with fever and cough. We started treatment with antibiotics, but he showed no improvement. Computed tomography at this point showed diffuse micronodular shadow and pleural effusion, leading us to a diagnosis of tuberculosis. His stomach fluid culture tested positive for Mycobacterium tuberculosis, and we initiated therapy with four anti-tuberculosis drugs. The patient, however, showed no improvement and developed headache and vomiting. Brain magnetic resonance imaging showed multiple intracranial tuberculomas and meningitis. His symptoms subsided with corticosteroid therapy, and after a month of treatment, we reduced the corticosteroid dosage. The patient was discharged from the hospital 144 days after symptom onset, and the anti-tuberculosis therapy continued for a year. The patient recovered without residual symptoms or relapse.
In this patient without malnutrition or immunodeficiency, the brain magnetic resonance imaging demonstrated characteristic findings of tuberculomas. Although tuberculosis is considered a rare disease in Japanese pediatric patients, in cases of miliary tuberculosis, the central nervous system should be carefully examined through imaging studies, as paradoxical enlargement of the intracranial tuberculomas are known to occur with anti-tuberculosis therapy.
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Case Report
Title
Bacteremic Osteomyelitis of the Pubis Caused by Staphylococcus Aureus in 2 Junior High-school Student Athletes
Author
Riu Homma Katsuhiko Kitazawa Akihito Honda Yoshihiro Aoki Yukie Arahata Hironobu Kobayashi and Masayoshi Senda
Department of Pediatrics, Asahi General Hospital
Abstract
Osteomyelitis of the pubis is a rare condition but has been increasingly reported among high-school student athletes. We report 2 junior high-school students with bacteremic osteomyelitis of the pubis caused by Staphylococcus aureus. Case 1 involved a 13-year-old girl belonging to a school volleyball club. She presented to the emergency room (ER) with fever, and lower abdominal and bilateral groin pain. We diagnosed osteomyelitis of the pubis based on the growth of methicillin-sensitive susceptible Staphylococcus aureus from blood cultures and magnetic resonance imaging (MRI) findings obtained on the 18th hospital day. After an 8-week course of antibiotic therapy, she recovered without any sequelae. Case 2 involved a 14-year-old boy belonging to a school baseball club. He was referred from another hospital to the ER because of fever and left groin pain that was unresponsive to intravenous ceftriaxone administration. He was diagnosed with osteomyelitis of the pubis based on the growth of methicillin-resistant Staphylococcus aureus from blood cultures and MRI findings on the 3rd hospital day. After a 6-week course of antibiotic therapy, including vancomycin, he recovered without any sequelae. In both cases, there were similarities between the patient histories and clinical features, including (1) participation in school sports club activities, (2) initial presentation of severe lower abdominal/groin pain around the pubis, (3) poor diagnostic findings in initial blood tests and imaging studies, and (4) Staphylococcus aureus bacteremia. Although difficult to diagnose at the initial presentation, we should always consider a diagnosis of osteomyelitis of the pubis as a medical emergency in school-aged athletes who present with lower abdominal or groin pain.
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Case Report
Title
A Case of Shaken Baby Syndrome Diagnosed by Cervical Spine MRI Findings
Author
Ayafumi Ozaki1) Akihiko Miyauchi1) Ayumi Matsumoto1) Yukifumi Monden1) Masaru Hoshina3) Yutaka Kikuchi3) Rieko Furukawa2) Hitoshi Osaka1) Toshinori Aihara2) and Takanori Yamagata1)
1)Department of Pediatrics, Jichi Medical University
2)Department of Pediatrics Medical Imaging, Jichi Medical University
3)Department of Pediatrics, Haga Red Cross Hospital
Abstract
Abusive head trauma (AHT), including shaken baby syndrome (SBS), is difficult to distinguish from accidental trauma as the diagnosis is dependent upon a physician's judgment based on a physical examination, fundus findings, head image findings and so on.
We report the case of a 3-month-old boy who presented with cardiopulmonary arrest while bathing with his father. AHT was suspected due to findings of an acute subdural hematoma, diffuse cerebral swelling, and ocular fundus bleeding. However, the acute subdural hematoma alone could not explain the cardiopulmonary arrest and diffuse cerebral swelling. The cervical spine magnetic resonance imaging (MRI) with sagittal short tau inversion recovery (STIR) image revealed hyperintensity in the spinal ligaments, paraspinal soft tissue, and cervical spinal cord, which strongly suggested cervical cord injury. Subsequently, an episode of shaking was confirmed from the father's interview. Therefore, we concluded that cervical cord injury due to SBS led to respiratory and cardiopulmonary arrest, which resulted in anoxic ischemic encephalopathy.
Although it is important that MRI should be conducted under enough observation in severe cases like our case, we propose that cervical MRI is useful to diagnose AHT by revealing hidden cervical cord injury.
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