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THE JOURNAL OF THE JAPAN PEDIATRIC SOCIETY
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Vol.119, No.12, December 2015
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Original Article
Title
Fact-finding Survey for Pain Crisis in Fabry Disease
Author
Yasushi Ito Hirokazu Oguni and Makiko Osawa
Department of Pediatrics, School of Medicine, Tokyo Women's Medical University
Abstract
Aim: Although Fabry disease (FD) usually occurs in childhood, it is common for the diagnosis to not be made until adolescence or even later. Paroxysmal unendurable pain affecting the hands and feet markedly impairs quality of life for FD patients. We conducted a detailed investigation of childhood pain crisis in FD, to find a clue to facilitate early diagnosis. Methods: With help from collaboration of patients and families, we investigated the true nature of the patients' pain experiences during childhood employing a questionnaire survey and thereby summarized the clinical characteristic of pain crisis. Results: We surveyed 37 patients (31 males and 6 females) and the response rate was 53%. The age distribution was 13 to 65 years (mean 37.4 years). Ages at pain crisis onsets ranged from late infancy to the second half of the school-age period, which accounted for approximately 90% of cases overall. However, 40% of all patients had been diagnosed in their teens and the remaining 60% after reaching adulthood. Pain crisis features were expressed as burning, stinging, stabbing, or throbbing, in nature, and the pain was described as being intolerable. The main locus of pain was the feet. Pain crisis was mostly triggered by factors elevating body temperature such as fever, a rise in the ambient air temperature, vigorous exercise, infection, and bathing, but could also be associated with drops in body temperature, change in the weather, fatigue, and mental stress. Misdiagnoses included myalgia/arthralgia associated with cold syndrome, growing pains, rheumatic fever, juvenile idiopathic arthritis, rheumatoid arthritis, psychogenic reaction, and even malingering. Conclusion: It is important to initially suspect FD, regardless of gender, when encountering a child with burning or stabbing pain crisis triggered by elevated body temperature, especially that due to bathing or exercise, affecting the feet and hands.
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Original Article
Title
Mastitis in Infants: A Single Center Experience with Five Cases
Author
Eiki Ogawa1) Nobuyuki Yotani1)3) Takanori Funaki2) Isao Miyairi2) Akira Ishiguro1)3) and Hirokazu Sakai1)
1)Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development
2)Division of Infectious Diseases, National Center for Child Health and Development
3)Department of Postgraduate Education and Training, National Center for Child Health and Development
Abstract
Mastitis is a rare disorder in children, most commonly occurring in infants younger than 2 months of age. There is no case series reported to date in Japan. We retrospectively studied infants with mastitis at our hospital from April 2002 to March 2013, and found five patients (2 males) with mastitis. Of these, 4 patients were older than 2 months of age. Fever was noted in only one patient, whereas erythema, warmth, swelling, and induration was noted in all cases. Breast abscess developed in 3 patients, and was treated by puncture and aspiration. Cultures of the pus yielded Staphylococcus aureus in 3 cases. A patient who was admitted to the hospital received parenteral and oral antibiotic treatment. The remaining 4 cases were treated with oral antibiotics. All cases recovered without any sequelae. Contrary to previous reports, the majority of patients in our study were infants older than two months of age, although there were no differences in the clinical course and outcome. Mastitis remains a consideration in infants older than 2 months of age and abscess formation should be sought during the course of illness.
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Original Article
Title
Clinical Characteristics of Pediatric Eosinophilic Gastrointestinal Disorders with Esophageal Eosinophilia
Author
Itaru Iwama and Moriyasu Kohama
Department of Pediatrics, Okinawa Chubu Hospital
Abstract
We report clinical characteristics of 6 pediatric cases of eosinophilic gastrointestinal disorders (EGID) with esophageal eosinophilia. There were 4 boys and 2 girls aged 1 to 13 years. Repetitive vomiting was observed in 5 cases. Failure to thrive was the characteristic symptom in toddlers and chronic abdominal pain was common in adolescents. No patient complained of dysphagia or food impaction. Peripheral eosinophil counts and total IgE levels were increased in most cases. Specific endoscopic findings, such as white plaques or furrows were seen in 5 cases, but one had normal esophageal findings. The final diagnosis was eosinophilic esophagitis in 4 cases and esophageal eosinophilia with other EGID in 2 cases. Overall, response to treatment was good. EGID is an important disease which causes chronic gastrointestinal complaints in children. Endoscopy with biopsy is crucial for diagnosis.
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Original Article
Title
Risk for Subdural Hematoma and Skull Fracture in Children's Head Trauma
Author
Shunsuke Amagasa1) Satoshi Tsuji1) Mikiko Miyasaka2) and Shunsuke Nosaka2)
1)Division of Emergency Service and Transport Medicine, National Center for Child Health and Development
2)Department of Radiology, National Center for Child Health and Development
Abstract
There is inconsistency among the mechanism of injury, findings of computed tomography (CT) and severity in children's head trauma. We examined the relationship among mechanism of injury, head CT scan findings, and the severity of head trauma in children.
Patients aged 0-5 years with intracranial bleeding or skull fracture who were admitted to National Center for Child Health and Development from April 2009 until December 2012 were analyzed retrospectively. A fall from height≤ 90 cm were defined as "low risk", and a fall from a greater height as "not low risk". A total of 115 children (mean age 7 month) were enrolled. They were categorized by head CT findings as subdural hematoma (SDH) without skull fracture (n=20), SDH with skull fracture (n=18), other findings without skull fracture (n=7), other findings with skull fracture (n=19) and isolated skull fracture (n=51). The cases of SDH without skull fracture had more severe, worse outcome and higher frequency of retinal hemorrhage than other groups (P< 0.05). In addition, SDH without skull fracture was higher frequency of low risk and unknown mechanism of injury (P< 0.05).
Our data shows that the SDH cases without skull fracture had more severe injury, although only minor history was obtained from their caregiver, suggesting SDH without skull fracture is associated with abuse. The mechanism of SDH without skull fracture must be examined.
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Case Report
Title
An Infant with Idiopathic Chordal Rupture of the Mitral Valve Saved by Emergency Surgical Repair
Author
Akiko Akashi1) Satoko Ito1) Masataka Kitano2) Satoko Kobayashi1) Noriko Hotta1) Hiroshi Tateishi1) Kyoko Fujita1) Tadaaki Abe2) Ken-ichi Kurosaki2) and Masashi Uchida1)
1)Department of Pediatrics, Tokuyama Central Hospital, Japan Community Health Care Organization
2)Department of Pediatric Cardiology, National Cerebral and Cardiovascular Center
Abstract
Here we present the case of a 4-month-old infant female with idiopathic chordal rupture of the mitral valve. She presented with low-grade fever, mild cough, and tachypnea. She displayed elevated levels of C-reactive protein, and was referred to our hospital on day 4 of the illness to determine the underlying cause of fever. She was diagnosed with urinary tract infection: however, she exhibited poor sucking ability and her tachypnea gradually worsened. On day 7 of the illness, systolic heart murmur was audible for the first time in the mitral valve area. Her face became pale, and she exhibited cold sweat around the nose area and a prominent systolic heart murmur was heard in the apical field the next day.
Cardiac ultrasonography revealed that the tip of the posterior mitral valve was inverted. Severe mitral and tricuspid regurgitation signals were recorded with a corresponding continuous wave Doppler velocity of 4.0 m/s. We diagnosed acute left heart failure associated with pulmonary hypertension due to a torn chorda of the mitral valve. The patient was immediately transferred to another hospital, where surgery was possible. She underwent successful emergency surgery to reconstruct the mitral valve using two artificial chordae.
Her clinical course is documented in the Japanese National Research (2012) as a representative example of idiopathic chordal rupture of the mitral valve in an infant. This disorder is a life-threatening clinical condition; therefore, it is vital that the patient be transferred to a hospital that can perform emergency cardiac surgery as early as possible to improve the outcome. Prognosis is generally poor without surgical intervention.
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Case Report
Title
A Case of Juvenile Myelomonocytic Leukemia Complicated by Coronary Aneurysms
Author
Mayumi Hayashi1) Katsuyoshi Koh1) Motohiro Kato1) Yuki Arakawa1) Makiko Mori1) Ryo Ooyama1) Takahiro Aoki1) Risa Tanaka2) Kenji Sugamoto3) and Ryoji Hanada1)
1)Department of Hematology/Oncology, Saitama Children's Medical Center
2)Department of Infectious Disease, Immunology and Allergy, Saitama Children's Medical Center
3)Department of Cardiology, Saitama Children's Medical Center
Abstract
Coronary aneurysms in childhood are typically only seen in Kawasaki disease. Here we report a case of juvenile myelomonocytic leukemia (JMML) complicated by coronary aneurysms.
A 1-year-old boy presented with fever, rash, and lymphadenopathy; he was diagnosed with Kawasaki disease. Although cardiac ultrasonography revealed coronary aneurysms, his blood tests and clinical findings were not typical of Kawasaki disease. Subsequently, he developed encephalopathy and hemophagocytic syndrome. Increased monocyte levels, spontaneous colony formation, hypersensitivity to granulocyte-macrophage colony stimulating factor, and an NRAS mutation were observed. Finally, we diagnosed JMML complicated by a coronary aneurysm.
We suspect that an immunoreaction abnormality induced hypercytokinemia and caused the coronary aneurysm. A hypercytokine response might have affected the patient's clinical course.
In the case of JMML with a RAS mutation and an abnormal immunoreaction, cardiac ultrasonography is required because of the possibility of a coronary aneurysm.
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Case Report
Title
Pelvic Pyomyositis Caused by Group A Streptococcus
Author
Yuko Sato1)3) Hiroshi Sakata1) Jyun-ichi Oki1) Hironori Takahashi2) Tsunehisa Nagamori2) Shin Koyano2)4) and Hiroshi Azuma2)
1)Department of Pediatrics, Asahikawa Kosei Hospital
2)Department of Pediatrics, Asahikawa Medical University
3)Department of Pediatrics, Abashiri Kosei Hospital
4)Kanagawa University of Human Survices
Abstract
Primary pelvic pyomyositis is a deep bacterial infection seen in young children, rarely seen in infants. Immunocompromised patients are high risk of this condition. Infectious diseases caused by Group A streptococcus (GAS) varies widely from surface infection such as pharyngitis, to invasive infection such as streptococcal toxic shock syndrome (STSS).
Here we described a one-year-old girl suffering pelvic pyomyositis caused by GAS. She showed high fever for 10 days, without certain specific clinical symptoms and findings on physical examinations. Blood exam showed a marked inflammatory reaction. Diagnostic imaging including enhanced computer tomography and magnetic resonance imaging revealed that she had huge pelvic abscess complicated with sacroiliitis and osteomyelitis of ilium. After incisional drainage, GAS was detected from the abscess. The isolated GAS classified as emm 89.0, and speB, C, F were positive. Meropenem was administered empirically until the pathogen was identified, and then ampicillin was continued until drug eruption occurred. After the rush, cefazolin was administered, thus antibiotic therapy was continued for four weeks. She recovered without any sequelae.
We concluded that this condition could occur in early childhood and the clinical symptoms could be more unspecific, hence precise interview of the patients is important. Also, the strong invasiveness of GAS classified as emm 89.0 possibly caused the abscess to form in this patient.
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