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THE JOURNAL OF THE JAPAN PEDIATRIC SOCIETY
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Vol.122, No.5, May 2018
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Review
Title
Assessment of the Needs for Pediatrics in Disaster Areas through Psychological First Aid
Author
Satoshi Hasegawa and Masamichi Matsunaga
Department of Pediatrics, Niigata Prefectural Shibata Hospital
Abstract
Following the Great East Japan Earthquake of 2011, there is now a recognized need in Japan to provide medical assistance to children affected by natural disasters. Until now, however, vulnerable, disaster-affected children have not been given the opportunity to fully voice their feelings. The lack of individuals with a thorough knowledge of pediatric medicine among the medical personnel who typically visit disaster areas during the acute stage has also meant that the needs for pediatrics have not been properly addressed. When we visited the disaster area following the 2016 Kumamoto Earthquake, we had the opportunity to interact with disaster victims who were not able to express their needs. We found that that the presence of a pediatrician was sought by some of the disaster victims who wanted to express their needs. Our experiences taught us that pediatricians are expected to play a role in observing children and their guardians after a disaster, probing through interaction with their brimming but inexpressible feelings, and speaking for them to ensure that they are linked to appropriate sources of information and support in accordance with Psychological First Aid, a guide for attitudes and responses towards disaster support provision based on the action principles of "Look, Listen, and Link".
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Original Article
Title
Chimeric TNXA/TNXB Gene Associated with Ehlers-Danlos Syndrome in Japanese Patients with 21-hydroxylase Deficiency
Author
Kayo Ozaki1) Yuri Mukouyama2) Misako Okuno1) Kazumoto Iijima3) and Katsumi Goji1)
1)Department of Endocrinology and Metabolism, Kobe Children's Hospital
2)Department of Pediatrics, Toranomon Hospital
3)Department of Pediatrics, Kobe University Graduate School of Medicine
Abstract
The CYP21A2 gene encoding 21-hydroxylase partially overlaps adjacent to the TNXB gene encoding tenascin-X. There are pseudogenes CYP21A1P and TNXA with high homology to CYP21A2 and TNXB, respectively, and large deletions can occur by non-homologous recombination between CYP21A2 and CYP21A1P or between TNXB and TNXA. An unequal crossover between TNXA and TNXB not only eliminates the CYP21A2 gene, but may also create a non-functional TNXA/TNXB chimera and is therefore unable to express the functional tenascin-X protein. This defect contributes to the autosomal dominant hypermobility-type Ehlers-Danlos syndrome (EDS).
The objective of the study was to determine the frequency and clinical significance of the chimeric TNXA/TNXB gene in 29 Japanese patients from 26 families with 21-hydroxylase deficiency (21OHD).
[Methods] The subjects were screened for major genetic deletions including the locus of CYP21A2. TNXA/TNXB chimeras were analyzed by PCR with two TNXB-specific primers and one TNXA-specific primer.
[Results] The chimeric TNXA/TNXB gene was present in 3 patients from 3 families with 21OHD. Two patients and 1 parent of 3 parents with the chimeric TNXA/TNXB gene had joint hypermobility.
[Conclusion] The chimeric TNXA/TNXB gene was present in approximately 10% of the patients with 21OHD. Symptoms and signs of hypermobility-type EDS were present in half of the 21OHD patients and their family members with the chimeric gene.
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Original Article
Title
Reduced Risk of Bacteremia in Young Children with Febrile Seizure Caused by the Pneumococcal Conjugate Vaccine
Author
Yumi Takizawa1) Goro Sasaki1) Masanori Sato1) Misa Honda1) Reina Ishizaki1) Mai Sueyoshi1) Yoko Hagiwara1) Yuka Sunaga1) Yasuhiro Hirano1) Kazane Mizuno1) Masayoshi Shinjo2) and Takao Takahashi2)
1)Department of Pediatrics, Tokyo Dental College Ichikawa General Hospital
2)Department of Pediatrics, School of Medicine, Keio University
Abstract
Febrile seizure could be an acute symptom of bacteremia even in well-appearing children, providing a chance of early diagnosis and antimicrobial therapy. Since Streptococcus pneumoniae is known as the major pathogen of infantile bacteremia without an identifiable source, the pneumococcal conjugate vaccine (PCV) that was admitted to the routine vaccination schedule in 2013 may impact on the prevalence of bacteremia in Japan.
We retrospectively analyzed 128 young patients aged 0-7 year (median: 23 months) with febrile seizure without an identifiable source from 2010 to 2016. Among the 128 patients, 107 (84%) underwent blood culture.
Seven (6.5%) patients were positive on blood culture, consisting of 6 with S. pneumoniae and 1 with Streptococcus pyrogens. During the 7 years, the rates of bacteremia decreased from 12% to 1.8%, whereas the rates of PCV-vaccination increased from 9% to 100%. Three (4.5%) of 63 vaccinated patients were given diagnoses of bacteremia caused by S. pneumoniae with non-vaccine serotype (15A or 15C) or S. pyrogens.
While the widespread use of PCV has markedly reduced the prevalence of bacteremia in children with febrile seizure, the risk still remains at 1.8-4.5% associated with serotype or bacterial replacement in the post-vaccine era.
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Case Report
Title
Changes of Electrocardiograms and Left Ventricular Function before and after Left Ventricular Support in Pediatric Dilated Cardiomyopathy
Author
Masanori Mizuno Etsuko Tsuda Osamu Sasaki and Isao Shiraishi
Department of Pediatric Cardiology, National Cerebral and Cardiovascular Center
Abstract
A 5-year-old boy with dilated cardiomyopathy was referred to our institution due to severe congestive heart failure. On admission, a 12-lead electrocardiogram showed negative T waves with strain pattern in V5 and V6. A left ventricular assist device was implanted and his heart condition improved. Positive T waves in V5 and V6 were observed five days after the operation which were detected before improvement of the left ventricular wall motion on two-dimensional echocardiography. A wide cerebral infarction due to cardiac thrombosis was pointed out six days after the operation. The left ventricular assist device was removed because of repeated thrombus formation of the device. Negative T waves were observed again and two-dimensional echocardiography showed a decrease of the left ventricular fraction shortening and enlargement of left ventricular end-diastolic dimension. Consequently, the patient died of congestive heart failure. Changes of T waves in the thoracic leads may reflect left ventricular function during the use of the left ventricular assist device.
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Case Report
Title
A Case of Acute Transient Paroxysmal Cold Hemoglobinuria with Summer Onset
Author
Rie Ando1) Hiroshi Yoshino1) Yugo Ito1) Masako Sugimoto1) Yuki Gemma1) Hiroaki Ohnishi2) and Kunimasa Yan1)
1)Department of Pediatrics, Kyorin University School of Medicine
2)Department of Laboratory Medicine, Kyorin University School of Medicine
Abstract
Paroxysmal cold hemoglobinuria (PCH) is a rare disease that accounts for only 1 percent of hemolytic anemia, and is usually seen in winter with exposure to the cold. We report a case of a 3-year-old girl with PCH with summer onset. She was admitted to our hospital in July with fever, nausea, abdominal pain, and dark red urine. Jaundice was found on physical examination, and blood tests revealed anemia (Hb 9.8 g/dL), hyperbilirubinemia, and elevation of lactate dehydrogenase. A direct Coombs test was positive (IgG negative, C3d positive), and haptoglobin was a lower limit of normal range. The Donath-Landsteiner (D-L) test was positive, finally confirming the diagnosis of PCH. The patient was kept warm and given prednisone. The next day, her Hb level had fallen to 6.2 g/dL. She received one unit of packed red cells, which improved her anemia. She has subsequently remained well, for one year and eight months to date. Before hospitalization, she had consumed frozen desserts several times a day, and there were no other episodes of exposure to cold. It has been reported that the characteristics of D-L antibodies in acute transient PCH include a high thermal range. Therefore, we suggest that hemolysis might have occurred from exposure to the cold by consuming frozen desserts.
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Case Report
Title
Type 1 Diabetes Following Drug-induced Hypersensitivity Syndrome in a Child
Author
Yuichi Tateishi Rika Okano Shin Fujiwara Shiho Tamaura Shinichiro Iwataki Tetsuhiro Yoshimitu Takanori Utsumi and Ayaka Ohno
Department of Pediatrics, JA Onomichi General Hospital
Abstract
Drug-induced hypersensitivity syndrome (DIHS) is a severe adverse drug reaction caused by prolonged exposure to specific drugs and develops 2-6 weeks after the start of drug administration. It is characterized by human herpesvirus-6 (HHV-6) reactivation and various organ disorders. Here, we report the case of a 6-year-old boy who developed DIHS during treatment with sulfamethoxazole-trimethoprim. He presented with skin rash, fever, cervical lymph node swelling, leukocytosis with atypical lymphocytosis, and liver dysfunction and was given prednisolone and intravenous immunoglobulin therapy. Blood samples obtained 4 weeks after the onset of symptoms showed HHV-6 reactivation, leading to a diagnosis of DIHS. He was discharged following improvement of symptoms except for mild liver dysfunction and monitored until prednisolone was tapered. Three months after being discharged, he visited the emergency room with hyperglycemia and ketoacidosis and we diagnosed type 1 diabetes (T1DM) and diabetic ketoacidosis (DKA). He is currently under intensive insulin therapy. DIHS, which is characterized by multiple organ dysfunctions, is considered to cause several diseases, including T1DM, Grave's disease, Hashimoto's disease, and other autoimmune diseases. Although, cases of T1DM followed by DIHS have been increasing in adults, such cases are rare in children. Thus, patients of DIHS were needed follow up to these complications carefully.
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Case Report
Title
An Adolescent Girl Immediately Diagnosed with Allergy to Anisakis
Author
Kazunori Tagami1) Tomoko Furuta1) Shiro Sugiura1) Yasuto Kondo2) and Komei Ito1)
1)Department of Allergy, Aichi Children's Health and Medical Center
2)Department of Pediatrics, Fujita Health University, The Second Teaching Hospital
Abstract
Anisakis allergy should be considered in the differential diagnosis of patients showing an immediate allergic reaction after consuming seafood. We encountered a 17-year-old girl who was diagnosed with anisakis allergy. She suffered anaphylactic shock that required an adrenalin injection 30 minutes after eating pickled sardine, and firefly squid. An anisakis - specific IgE test (≥100 UA/mL), skin prick test and basophil activation test by crude extract of Anisakis simplex were all positive. An oral food challenge test excluded seafood allergies. Based on these tests, we diagnosed her with anisakis allergy and instructed her to completely avoid all seafood products. However, this guidance made her and her family extremely nervous and restricted their daily life. Regarding dietary advice, we should be well informed about the risk of anisakis infection in each typed fish and the characteristics of each anisakis allergen. Thus, the identification of causative anisakis allergens would be highly beneficial. As patients grow older, their eating circumstances change greatly. In addition to taking care of themselves, they might also take care of their spouse and children. Therefore, providing instructions which take the patients' life stages into consideration are needed. Specific care should be taken when delivering advice to young patients with an anisakis allergy, as these patients will have to deal with such restrictions for a relatively long time.
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Case Report
Title
Autosomal Dominant Distal Renal Tubular Acidosis Diagnosed by 3 Years Age
Author
Kaori Fujiwara1) Toshimi Michigami1) Natsumi Yamamura1) Kenichi Satomura1) Saburo Kimura2) Natsuki Matsunoshita3) Kandai Nozu3) Kazumoto Iijima3) and Katsusuke Yamamoto1)
1)Department of Pediatric Nephrology and Metabolism, Osaka Women's and Children's Hospital
2)Kimura Pediatric Clinic
3)Department of Pediatrics, Kobe University Graduate School of Medicine
Abstract
Autosomal dominant distal renal tubular acidosis (ADdRTA) is caused by heterozygous mutation in the solute carrier family 4, member 1 (SLC4A1) gene. Most patients with ADdRTA remain asymptomatic until adolescence or adulthood, and subsequently manifest nephrolithiasis. The clinical severity of ADdRTA is variable, ranging from growth impairment to nephrolithiasis causing renal insufficiency. Here we report a case of ADdRTA, who was diagnosed at the age of 3 years. Proteinuria was suspected in urinalysis screening in a 3-year-old child. At the first visit to a pediatric clinic, she had minimal urinary protein on a urine test paper and severe low-molecular-weight proteinuria. She also had an unusual family history of nephrolithiasis. Ultrasound examination revealed that she had nephrocalcinosis. The SLC4A1 gene analysis identified a heterozygous missense mutation (p.D902N) in the proband and her affected father, leading to the diagnosis of ADdRTA. Early diagnosis is beneficial for ADdRTA patients because it may enable us to reverse growth failure and to prevent the development of new nephrolithiasis. However, the detection of proteinuria in diluted urine from ADdRTA patients may be difficult. Considering this point, we should evaluate for low-molecular-weight proteinuria and conduct an ultrasound scan of the kidneys when microproteinuria is suspected.
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Case Report
Title
Subdural Hematoma and Retinal Hemorrhage after Minor Head Trauma in a One-year Old Boy with Glutaric Acidemia Type I
Author
Akiko Yamada1) Atsushi Iwabuchi2) Kaori Ouchi1) Takahiro Kido1) Takashi Enokizono1) Tatsuyuki Ohto2) Takashi Fukushima2) and Ryo Sumazaki2)
1)Department of Pediatrics, University of Tsukuba Hospital
2)Department Child Health, Faculty of Medicine, University of Tsukuba
Abstract
Glutaric acidemia type 1 (GA1) is an organic acid disorder caused by glutaryl-CoA dehydrogenase (GCDH) deficiency. In Japan, the newborn mass screening using tandem mass spectroscopy was introduced nationwide after 2014 for the early diagnosis of this disease and improvement of neurological sequelae.
Here, we present a case with GA1 who had been detected by newborn mass screening and received early nutritional therapy. There was no delay in gross motor development, but asymptomatic chronic subdural hematoma (SDH) was present on MRI at 15 months of age. When he was 18 month old, he fell down from a low table and subsequently had status epilepticus. At a local emergency department, acute and chronic SDH was diagnosed by CT scan. The hematoma was relieved spontaneously, and he was discharged from the hospital on the 11th hospital day without any motor paralysis.
In recent years, early treatment of GA1 has improved neurological development, enabling patients to achieve normal developmental milestones. On the other hand, there have been some case reports of GA1 patients with SDH after minor head trauma.
In this report, we describe the sequence of our case and compare with previous reports to raise attention for better treatment of GA1 cases.
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Case Report
Title
Four Cases of Pertussis Less than 3 Months of Age
Author
Daiki Wakabayashi Takeshi Munenaga Anna Goto Kotaro Umezawa Hideaki Fukushima Tatsuya Hatagishi Naoko Miyaji Chieko Kusano Naoaki Hori and Yoshitake Sato
Department of Pediatrics, Ota Memorial Hospital
Abstract
Pertussis is a bacterial infection which sometimes causes serious illeness and is life threatening.
About half of neonates and infants will be hospitalized without vaccination
Pertussis is a vaccine preventable disease (VPD), however, pertussis infection has not been suppressed sufficiently by the vaccine.
Pertussis prevails all over the world as a re-emerging infectious disease.
As a recent epidemiological trend, more adult patients are increasing in number, because of the attenuation of the immune effect of the vaccine, followed by the infection of neonates and infants.
It is also reported that the protective immunity of pertussis wanes after 4 to 12 years.
During the last 5 years, we encountered 4 cases of pertussis patients less than 3 months old, who had not had a vaccination.
One case was treated at the outpatient clinic, and the others were hospitalized.
One was in a serious state on day 9 of hospitalization due to ARDS and MOF, then died. The other 2 recovered gradually.
To solve the problems of how to protect young infants, the important point are, (1) vaccination at on early times, (2) booster vaccination at the time of school age and adult hood, (3) vaccination during pregnancy in mothers.
We report 4 cases of pertussis, and discuss the necessity of early vaccine intervention and future policy.
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Case Report
Title
A Pediatric Case of Severe Heat Stroke with Persistent High Blood Pressure
Author
Eri Murakami1)3) Hiro Nakao1) Shotaro Kaku4) Naho Nishimura2) Mitsuru Kubota1) and Akira Ishiguro3)
1)Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development
2)Department of Anesthesiology and Intensive Care Medicine, National Center for Child Health and Development
3)Department of Postgraduate Education and Training, National Center for Child Health and Development
4)Department of Emergency Service and Transport Medicine, National Center for Child Health and Development
Abstract
Introduction: Severe heat stress is defined as heat stress with organ failure. The relationship between heat stress and blood pressure remains unclear.
Case: A 12-year-old boy suddenly began experiencing convulsions and a body temperature of 42°C after starting baseball practice in the summer heat and was transferred to the emergency department. He was admitted for severe heat stroke and underwent primary care. However, multiple organ failure and hypertension developed, and the patient was referred to the intensive care unit at our hospital. On arrival, his body temperature was 38°C, his blood pressure was 166/75 mmHg. We started cooling and administering a calcium channel blocker. However, the hypertension and tachycardia persisted, indicating a hyperdynamic state. After a β blocker was administered, the heart rate and blood pressure normalized, and his mental status improved. We then tapered the antihypertensive agents and eventually stopped administration when his blood pressure stabilized.
Discussion: The case involved a central nervous disorder, tachycardia, and hypertension due to severe heat stroke. Treatment with a β blocker was successful. The pathological mechanism is unknown but we hypothesized that paroxysmal sympathetic hyperactivity and the hyperdynamic state were related. Severe heat stroke may cause hypertension and it may be possible to treat with a β blocker.
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Case Report
Title
Issues with the Pediatric Organ Transplant System in Japan through Our Experience with Organ Donation from a 1-Year-Old Brain-Dead Boy
Author
Yoshikazu Otsubo1) Rieko Sakamoto2) Mari Yokokawa1) Muneichiro Sumi1) Kunio Hashimoto3) and Ai Onishi3)
1)Department of Pediatrics, Sasebo City General Hospital
2)Department of Pediatrics, Kumamoto University Hospital
3)Department of Pediatrics, Nagasaki University Hospital
Abstract
We experienced a rare case of organ donation from a one-year-old brain-dead boy who had been a recipient of a living donor liver transplant from his mother. A previously healthy boy developed acute hepatic failure of unknown cause and was apparently saved by the transplant; however, he developed acute encephalopathy and was certified clinically brain dead two weeks after the transplant. Although approximately 7 years have passed since the Enforcement of the Revised Organ Transplant Law in July 2010, organ donation from brain-dead children has been very rare. The present patient was the seventh case of brain-dead organ donation from a donor under 6 years of age in Japan. Our experience with such an extraordinary case prompted several issues concerning the pediatric organ transplant system in Japan. Progress concerning pediatric transplant requires preferential donation of children's organs to other pediatric patients, recruiting more transplant coordinators and clinical psychologists specializing in treating children, developing information disclosure methods etc. We should resolve the aforementioned issues urgently, since many pediatric patients and theirfamilies are desperate for an organ donation to save or improve quality of life.
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