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THE JOURNAL OF THE JAPAN PEDIATRIC SOCIETY
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Vol.122, No.4, April 2018
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Original Article
Title
Role of Pediatricians in the Early Diagnosis of Craniosynostosis
Author
Hisako Daimon1)2) Yuri Sakaguchi1)3) Toshiki Takenouchi1)2) Kazuya Matsumura1)2) Yoshiaki Sakamoto1)4) Tomoru Miwa1)5) Kenjiro Kosaki1)3) and Takao Takahashi1)2)
1)Department of Children's Hospital and Perinatal Center, Keio University School of Medicine
2)Department of Pediatrics, Keio University School of Medicine
3)Department of Center for Medical Genetics, Keio University School of Medicine
4)Department of Plastic and Reconstructive Surgery, Keio University School of Medicine
5)Department of Neurosurgery, Keio University School of Medicine
Abstract
We set out to delineate the early diagnostic signs of craniosynostosis (CS) that should be examined during routine well-care visits in children.
The study population consisted of children with craniosynostosis who were seen at Keio University Hospital between January 1, 2012, and August 31, 2015. A retrospective review of the medical records was undertaken for the first diagnostic signs of CS, cranioplasty, and psychomotor development. Syndromic CS included classic syndromic CS (such as Apert syndrome and Crouzon syndrome) and other non-classic syndromic CS. Non-syndromic CS was defined as the presence of CS without other anomalies.
Among the 45 children who met the criteria, 28 patients were categorized as having non-syndromic CS and 17 patients were categorized as having syndromic CS. Parents first noticed the cranial deformity in 57% of the cases with non-syndromic CS, whereas physicians first noticed the cranial deformations in all the cases of syndromic CS (P=0.005).
More than half of the non-syndromic CS cases were overlooked by physicians at the first visit, suggesting that CS is still under-recognized among general pediatricians. The identification of characteristic cranial deformity is a key to the early diagnosis of CS.
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Original Article
Title
Characteristics of Early and Late Onset Escherichia coli Bacteremia in a Children's Hospital
Author
Saori Kawakami1) Kensuke Shoji2) Akira Ishiguro1) and Isao Miyairi2)
1)Department of Postgraduate Education and Training, National Center for Children Health and Development
2)Department of Infectious Diseases, National Center for Children Health and Development
Abstract
Escherichia coli is one of the major pathogens that cause severe bacterial infections in early infancy. However, the clinical characteristics and underlying diseases that predispose patients to bacteremia are largely unknown. We performed a retrospective review of patients who developed E. coli bacteremia within 3 months of age. There were 24 patients who had E. coli isolated from their blood or cerebrospinal fluid by culture at our institution between January 2002 and June 2016. Of these isolates, 58 percent were resistant to ampicillin. There were 5 early onset cases and 19 late onset cases. Early onset disease tended to occur in patients who were born due to premature rupture of membranes and were preterm and low birth weight (40% each). The clinical presentations consisted primarily of sepsis that lacked any apparent focus (60%). The majority of late onset patients presented with urosepsis (74%), and tended to have underlying urinary tract abnormalities such as vesicoureteral reflux. There were 4 patients with heart diseases, 3 of whom had asplenia or polysplenia. They presented with sepsis that lacked apparent focus, regardless of the timing of onset. There were 3 patients (13%) that died due to E. coli sepsis. None of the survivors had long term sequelae to our knowledge. The clinical characteristics of bacteremia due to E. coli in early infancy was different between early or late onset patients. Underlying diseases should be considered in infants who develop E. coli bacteremia.
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Case Report
Title
Acute Ischemic Stroke Caused by Left Atrial Myxoma
Author
Yuichi Akaba Kouichi Nakau Hideharu Oka Aya Kajihama and Hiroshi Azuma
Department of Pediatrics, Asahikawa Medical University
Abstract
Atrial myxoma, the most common cardiac primary tumor in adults, is less often encountered in children. Atrial myxoma is a rare cause of ischemic stroke, especially in pediatric patients. Here we describe a case of acute ischemic stroke caused by left atrial myxoma in a pediatric patient. A 7-year-old-boy presented to the emergency department with sudden onset left-sided hemiparesis. Magnetic resonance imaging revealed acute ischemia in the right thalamus, right occipital lobe, and frontal lobe. His serum troponin I level was elevated, and an ehocardiogram showed a large mass in the left atrium. He had no symptoms of congestive heart failure. Emergency tumor excision was performed, and a myxoma was diagnosed on microscopic examination. He had no postoperative neurologic deficits, and the neurologic examination was normal on the day of discharge.
It is difficult to conceive of a cardiac tumor as the cause of acute ischemic stroke in a pediatric patient. An atrial myxoma may present with a variety of symptoms related to the size and location of tumor. Atrial myxomas may cause congestive heart failure in younger infants, but older infants may have no symptoms. An atrial myxoma is typically diagnosed with an echocardiogram, and examination of serum troponin is helpful for diagnosis. This case report suggests that a cardiac tumor should be considered in pediatric patients with acute ischemic stroke, even if they have no symptoms of heart failure.
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Case Report
Title
A Case of Infantile Scabies Difficult to Differentiate from Multisystem Langerhans Cell Histiocytosis
Author
Rie Shirayama Ryota Igarashi Yuko Honda Takuya Yoshida Koichi Oshida Naoko Higuchi Hiromi Morita Tetsuji Sato and Koichi Kusuhara
Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health
Abstract
Infantile scabies infections may mimic Langerhans cell histiocytosis (LCH) clinically and histologically. To date, some cases of infantile scabies misdiagnosed as cutaneous Langerhans cell histiocytosis have been reported.
We report a 1-month-old girl who presented with erythema and cough. Histological examination revealed infiltration of S-100-positive/CD1a-positive histocytes and we diagnosed LCH at that time. Chest radiograph and computerized tomography showed the nodular pattern typical of pulmonary involvement of LCH. The eruption improved with chemotherapy initially, however, it then worsened and pruritus appeared. Dermoscopy revealed scabetic burrows and mites on her skin at that time. Accordingly we diagnosed infantile scabies. We checked the previous biopsy specimen again and found mites overlying superficial dermal infiltrate.
Scabies must be ruled out in infants and children with eczematous eruptions by dermoscopy or microscopic examination before biopsy, especially among patients suspected of LCH. Our patient differed from other infantile scabies patients misdiagnosed as LCH. She had typical pulmonary involvement of LCH and moderate elevation of transaminase. Therefore she might have had multisystem LCH with infantile scabies. Because of scabies, chemotherapy was stopped and she has been followed-up thereafter. Signs and symptoms of LCH have not appeared for 2 years despite no chemotherapy. She needs further careful follow-up for relapse of LCH.
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Case Report
Title
Lung Sound Changes during Asthma Exacerbation in Three Children
Author
Takashi Sakama1) Mariko Nukaga2) Yumi Hyoudo3) Mayumi Enseki2) Hideyuki Tabata2) Kota Hirai1) Masahiko Kato2) and Hiroyuki Mochizuki2)
1)Department of Pediatrics, Tokai University Hachioji Hospital
2)Department of Pediatrics, Tokai University School of Medicine
3)Division of Pediatrics, Japanese Red Cross Hadano Hospital
Abstract
Clinical applications of lung sound analysis methods have advanced recently. Using a lung sound analyzer and hand-made analysis software, we explored the application of a new method for detecting changes in lung sounds in children with airway narrowing during a three-year period. In this study, several children with acute exacerbation of bronchial asthma demonstrated changes in their lung sounds and lung functions after undergoing beta-2 agonist inhalation. Three cases of asthmatic children with wheezing were studied. In accordance with our previous reports, we checked the wheezing by sonograms, and assessed the differences in the parameters of lung sound analysis and lung function tests between before and after beta-2 agonist inhalation. In the 3 patients, high-pitched wheezes during expiratory breathing which appeared as frequency bands on a display almost disappeared after beta-2 agonist inhalation. We also detected changes in the lung sound spectrum after beta-2 agonist inhalation. In all cases, the new lung sound parameters of A3/AT, B4/AT, RPF50 and RPF75 increased after beta-2 agonist inhalation, indicating that the high pitched sound areas decreased after beta-2 agonist inhalation. These results are of interest with respect to implications regarding the reversibility of airway sounds in children.
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Case Report
Title
Idiopathic Membranous Glomerulonephritis Associated with Only Anti-nuclear Antibody Diagnosed as SLE after Improvement of Proteinuria
Author
Ichiro Osawa1) Masato Saito1) Tomohiko Nishino1) Daisuke Kakegawa1) Koji Sakuraya1) Shunsuke Sakurai1) Hitohiko Murakami2) and Shuichiro Fujinaga1)
1)Division of Nephrology, Saitama Children's Medical Center
2)Division of Pathology, Saitama Children's Medical Center
Abstract
We encountered a case of idiopathic membranous glomerulonephritis (IMN) associated with only anti-nuclear antibody by renal biopsy, which was diagnosed as systemic lupus erythematosus (SLE) 4 years after improvement of proteinuria. The patient was a 14-year-old girl with proteinuria found in a school mass screening. The examination revealed anti-DNA antibody of 1:640 with a homogeneous and speckled pattern, but no other clinical findings associated with SLE were found. The diagnosis of IMN was made on the basis of the renal biopsy result. Proteinuria improved in 8 months by administration of angiotensin II receptor antagonist. However, 4 years later after improvement of proteinuria, fever and butterfly erythema, and arthralgia occurred and examinations revealed SLE. After treatment with pulsed steroid, she achieved remission. Thereafter, she successfully remained in remission with oral prednisolone therapy. Some SLE cases precede only nephropathy;therefore, the symptoms and examination should be observed carefully, particularly in girls.
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Case Report
Title
Four Cases of Hematometrocolpos
Author
Aya Shimada1)2) Koji Muroya1) Junko Hanakawa1) Yumi Asakura1) Masahiro Goto2) Yukihiro Hasegawa2) and Masanori Adachi1)
1)Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center
2)Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center
Abstract
Hematometrocolpos is a condition in which fluid or menstrual products accumulate in the vagina or the uterus. It can cause abdominal pain and also acute abdomen if a diagnosis is delayed. Sometimes it is difficult to make an early diagnosis of hematometrocolpos since it is not widely recognized among pediatricians. Here, we report four cases of hematometrocolpos. All the four cases had some underlying disease like graft-versus-host disease or disorders of sex development. All of them were diagnosed as hematometrocolpos within three months from menarche or the first withdrawal bleeding under hormone replacement therapy. Surgical intervention was necessary in all four cases.
Certain pathological condition such as urogenital anomalies of urogenital tract due to disorders of sex development, vaginal stenosis after vaginal construction surgery, and graft-versus-host disease can cause vaginal stenosis and hematometrocolpos. In some of these cases, we can make an early recognition of hematometorocolpos. A measurement of serum gonadal hormone and an evaluation of uterus maturation by using ultrasonography after pubertal age in the patient can help an early recognition of hematometrocolpos.
It is important to raise hematometrocolpos as a differential diagnosis in a pubertal girl with abdominal pain, because hydrometrocolpos might progress to acute abdomen.
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Case Report
Title
Hyperoxaluria Type 2 Diagnosed Because of Naturally Excreted Kidney Stones
Author
Kengo Sugimoto1) Kana Hamanaka1) Yuka Hirano1) Tomoyuki Sakai2) Tomiko Kuhara3) and Yoshihiro Maruo2)
1)Division of Pediatrics, Yasu Hospital
2)Department of Pediatrics, Shiga University of Medical Science
3)Japan Clinical Metabolomics Institute
Abstract
We report the case of a 1-year-old boy with primary hyperoxaluria type 2 (PH2) who was given a diagnosis of naturally excreting kidney stones without the presence of hematuria or urinary tract infection. Only five cases of PH2 have been reported in Japan. In all these cases, initial symptoms were observed during infancy. Among the five patients, four presented with hematuria and one presented with urinary tract infection. These clinical symptoms were not seen in the present case; the initial symptom was the natural excretion of kidney stones into a diaper. Abdominal ultrasound performed during the initial examination revealed stones in both kidneys, and analysis of the stones revealed that they were mainly composed of calcium oxalate. Biochemical urinalysis confirmed an elevated urinary oxalic acid level, and also urinary metabolome analysis revealed elevated urinary glyceric acid level. Furthermore, genetic analysis identified homozygous mutations of c.904C>T, resulting in p.R302C in the glyoxylate reductase/hydroxypyruvate reductase gene. He was consequently given a diagnosis of PH2, which is an extremely rare disease. It is important to be aware of PH2 in order to administer appropriate tests and achieve early diagnosis when a patient presents with multiple kidney stones in infancy, as seen in the present case.
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