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THE JOURNAL OF THE JAPAN PEDIATRIC SOCIETY
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Vol.123, No.8, August 2019
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Original Article
Title
Efficacy of Laparoscopic Renal Biopsy for Pediatric Renal Disease
Author
Shohei Taguchi1) Kazuna Ejima2)3) Yuki Kawano1) Rie Kuroki2) and Yasufumi Hidaka2)
1)Department of Pediatric Surgery, Kitakyushu Municipal Medical Center
2)Department of Pediatrics, Kitakyushu Municipal Medical Center
3)Department of Pediatrics, Ichieda Clinic
Abstract
Percutaneous renal biopsy is generally performed for the diagnosis of pediatric kidney disease, and to determine its severity, and treatment effects. However, due to severe complications, absolute bed rest, postoperative pain, and restriction of exercise afterwards, renal biopsy is a burdensome examination for the patient. In our hospital, laparoscopic renal biopsy has been introduced as a method that does not require relying on hemostasis and absolute rest after the operation. Between 2013 and 2018 this method was performed for 62 patients. Based on the average number of collected glomeruli (laparoscopic group: 36.1±18.4 vs. percutaneous group: 22.1±18.6) and, average duration of hospital stay (laparoscopic group: 4.0±1.19 days vs. percutaneous group: 6.8±1.05 days), laparoscopic biopsy was significantly superior to percutaneous renal biopsy, which was performed in 36 patients. In addition, the laparoscopic biopsy group was divided into two groups, namely, the first biopsy group and the re-biopsy group. No significant difference was observed in the number of glomeruli, amount of bleeding, and the operation time between the two groups. Compared with percutaneous renal biopsy, laparoscopic renal biopsy provides comprehensive satisfaction to the patients, such as surgical complications, and postoperative quality of life, despite invasive anesthesia and pneumoperitoneum. Therefore, this method should positively be introduced for children with renal disease.
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Original Article
Title
Hair Tourniquet Syndrome in Eight Children
Author
Hirokazu Takei Takateru Ihara Osamu Nomura and Yusuke Hagiwara
Division of Pediatric Emergency Medicine, Tokyo Metropolitan Children's Medical Center
Abstract
【Background】 Hair tourniquet syndrome is a strangulation of fingers, toes, etc. by hair or thread leading to severe ischemia and mainly occurs in infants and children. The aim of this study was to describe the clinical features of pediatric patients with hair tourniquet syndrome who visited our emergency room (ER).
【Method】We conducted a retrospective analysis of hair tourniquet syndrome cases in children aged 15 years or younger who visited the ER at Tokyo Metropolitan Children's Medical Center between March 2010 and December 2017. We performed a medical chart review and extracted patient data including age, gender, the site of strangulation, cause of strangulation, time from discovery of the strangulation to arrival at the ER, treatment given at the ER, and outcomes.
【Results】We found 8 patients ranging in age from 1 month to 14 years old. All the patients were girls. Of these patients, the site of strangulation was the toes in five, the labia in two, and the tongue in one. The two patients with a labial tourniquet arrived at the ER complaining of genital pain. After excision and removal of the hair by cutting, the pain resolved. None of the patients was hospitalized.
【Conclusion】As seen in previous studies published interrnationally, the site of strangulation differed with age. Further prospective studies with more cases of hair tourniquet syndrome are needed in Japan.
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Case Report
Title
A Neonatal Case of Congenital Central Hypoventilation Syndrome with Allied Hirschsprung's Disease
Author
Sadayuki Fujishiro1) Atsushi Ohashi1) Yuka Tanaka1) Masato Hirabayashi1) Kenji Mine1) Takashi Doi2) Ayako Sasaki3) and Kazunari Kaneko1)
1)Department of Pediatrics, Kansai Medical University
2)Department of Pediatric Surgery, Kansai Medical University
3)Department of Pediatrics, Yamagata University
Abstract
Congenital central hypoventilation syndrome (CCHS) is a disease which displays hypoventilation and apnea during sleep occurring immediately after birth due to a congenital disorder in ventilator response to hypercarbia and hypoxemia. CCHS is caused by a mutation in the PHOX2B gene where approximately 20% of patients with the disease also develop Hirschsprung's disease (HD).
The authors experienced a case where a patient with CCHS developed allied HD resulting in death due to fatal arrhythmia; thus, the case is presented in this report along with a bibliographic discussion.
The child's patient was born by vaginal birth at 40 weeks and 1 day with a birth weight of 3,082 g. The patient developed a respiratory disorder and abdominal distension immediately after birth; therefore, the patient was transferred to the neonatal intensive care unit. Due to prolonged apneic paroxysm during sleep, CCHS was suspected and a genetic test was performed on day 27 after birth. The genetic test revealed that the patient carried 27 polyalanine repeat expansion mutation in the PHOX2B gene; thus, the patient was diagnosed with CCHS. Moreover, a histopathological diagnosis by intestinal mucosa biopsy on day 7 after birth showed allied HD (intestinal aganglionosis). Based on these results, treatment was continued by home care with an installed ventilator following a tracheotomy and nutrition following a clostomy. However, the patient died on day 290 after birth due to fatal arrhythmia. There were only 2 reports in Japan published regarding CCHS cases accompanied with allied HD.
In cases when a newborn develops apneic paroxysm during sleep and gastrointestinal obstruction, genetic tests to check for presence of mutations in the PHOX2B gene and intestinal mucosa biopsy should be conducted promptly due to the consideration that CCHS might be accompanied with HD or allied HD. It is thought that an appropriate course of management of the disorder should be determined according to such definitive diagnoses.
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Case Report
Title
Efficacy of Home High-flow Nasal Cannula for an Infantile Case of Congenital Myasthenic Syndrome Caused by a Rapsn Mutation
Author
Kei Sakai1) Yuji Inaba1)3)4) Yoko Saima1) Shoko Yamauchi1) Hideko Nakajima1) Tetsuhiro Fukuyama1) Yuka Misawa2) Takanori Tsukahara4) Motoko Kamiya4) and Tomoki Kosho5)6)
1)Division of Neurology, Nagano Children's Hospital
2)Division of Rehabilitation, Nagano Children's Hospital
3)Children's Center for Environmental Health Epidemiology, Shinshu University School of Medicine
4)Department of Pediatrics, Shinshu University School of Medicine
5)Department of Medical Genetics, Shinshu University School of Medicine
6)Center for Medical Genetics, Shinshu University Hospital
Abstract
Congenital myasthenic syndrome (CMS) is characterized by muscle weakness and fatigue due to dysfunction of neuromuscular junctions. We describe an infantile case of CMS managed successfully using home high-flow nasal cannula therapy. An 11-month-old girl born to healthy parents required intubation at birth because of respiratory distress and we commenced high-flow nasal cannula therapy at 3 days of age. She had general muscular weakness and a myopathic face, dysphagia, a bell-shaped thorax, and constriction in some joints. Following the diagnosis of CMS caused by a rapsn mutation at 111 days of age, she began treatment with oral pyridostigmine and a home high-flow nasal cannula mechanical ventilator. Her muscle strength, respiratory condition, and bell-shaped thorax gradually improved. Mechanical ventilation eventually became necessary only at night time, and she was discharged at 271 days of age for home care without tracheotomy. This is the first case report demonstrating the efficacy and safety of home high-flow nasal cannula therapy for infantile CMS, which could result in hypoventilation during sleep.
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Case Report
Title
A Case of Acute Lymphocytic Leukemia with Onset of Varicella Derived from Varicella Vaccine Just before Leukemia Onset
Author
Masataka Fukuoka1) Hiroyuki Fujisaki1) Kai Yamasaki1) Chika Nitani1) Keiko Okada1) Kiyoko Amo2) Masao Togawa2) Tetsushi Yoshikawa3) and Junichi Hara1)
1)Department of Pediatric Hematology/Oncology, Children's Medical Center, Osaka City General Hospital
2)Department of Pediatric Emergency, Children's Medical Center, Osaka City General Hospital
3)Department of Pediatrics, Fujita Health University
Abstract
Here, we describe a Varicella zoster virus (VZV) infection case that occurred during the introduction of chemotherapy, following administration of a primary VZV vaccination just prior to chemotherapy initiation. A 7-year-old boy with anemia and thrombocytopenia was given a diagnosis of B precursor acute lymphoblastic leukemia (ALL) in our hospital. After the initiation of remission induction chemotherapy, itchy papules appeared on his head on the 12th day of therapy. Although the papules improved without treatment, several vesicular exanthemas appeared on the patient's trunk and limbs on the 30th day of therapy. VZV DNA (3.0×105 copies/mL) was detected by quantitative polymerase chain reaction assay in samples from these exanthemas. The patient had been vaccinated against varicella only 18 days prior to starting remission induction therapy. The detected VZV DNA was confirmed by both a LAMP assay and DNA sequencing analysis to be derived from a VZV vaccine strain (Oka strain) ; therefore, we diagnosed the patient with VZV infection from vaccination. We initiated acyclovir therapy when restarting chemotherapy for the ALL, and the patient's VZV infection was not reactivated. Although the varicella diagnosis was delayed because of the atypical clinical course, no in-hospital secondary transmission patients appeared. Varicella vaccine is an attenuated live vaccine, and immunocompromised hosts are more likely than healthy people to experience an infection and a more severe disease course from the vaccine. Some secondary transmission infections from such patients have been reported for other cases. A patient's history of varicella vaccination should be carefully checked before the commencement of immunosuppressive therapy.
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Case Report
Title
A Case of Addison Disease Diagnosed by Adrenal Insufficiency on the Basis of Hypoglycemic Seizures During the Follow-up of Vitiligo Vulgaris
Author
Taro Shimamoto1) Yukiyo Yamamoto1)2) Aoi Taku1) Tomomi Ikegami1) Mami Kuwamura1) Reiko Saito1) Motohide Goto1) Kazuyasu Kubo1) Rinko Kawagoe1) Yasusada Kawada1) and Koichi Kusuhara1)
1)Department of Pediatrics, University of Occupational and Environmental Health
2)Director of Medical Education, School of Medicine, University of Occupational and Environmental Health
Abstract
Addison disease potentially develops life-threatening adrenal insufficiency. However, delayed diagnosis could occur because of its rarity and nonspecific clinical manifestation. Here we report a case of a 6-year-old girl with Addison disease in which hypoglycemic seizures served as a diagnostic clue. At age 4, she was found to have vitiligo. During her course, she had gradually increasing skin hyperpigmentation and hypoglycemic seizures at the time of gastroenteritis at 6 years and 5 months old. However, she had never received an endocrine examination. Two months later, she had seizures again at the time of pneumonia. Laboratory examinations revealed hypoglycemia associated with adrenal insufficiency (blood glucose 23 mg/dL, cortisol<0.4 μg/dL, ACTH>1700 pg/mL). She was referred to our hospital for further examinations. We diagnosed Addison disease. In addition, APS-4 was suspected because of the coexistance of vitiligo, although she had no other endocrine disorders. This case suggests that physicians need to evaluate endocrine functions in caes of vitiligo for a timely diagnosis and appropriate treatment.
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Case Report
Title
Necrotizing Fasciitis in a Toddler with Autoimmune Neutropenia of Infancy: A Case Study
Author
Motoharu Ochi1) Junya Shimizu1) Mika Shinoyama2) Shuichi Katayama3) Kenji Shigehara1) Mariko Hattori1) Toru Komazawa4) and Toshihide Kubo1)
1)Department of Pediatrics, National Hospital Organization Okayama Medical Center
2)Department of Plastic Surgery, National Hospital Organization Okayama Medical Center
3)Department of Pediatric Surgery, National Hospital Organization Okayama Medical Center
4)Komazawa Pediatric Clinic
Abstract
We report a case of a 19-month-old boy with necrotizing fasciitis (NF) and autoimmune neutropenia of infancy (AIN). The patient was referred to our hospital because of dark red-purple blisters with black necrotic skin on the right abdomen, inflammation around the blisters and elevated C-reactive protein level. The patient was in compensated shock and the LRINEC (Laboratory Risk Indicator for Necrotizing Fasciitis) score was elevated to 7 points. Abdominal contrast-enhanced CT scan showed widespread inflammation along the muscular fasciae. NF was suspected, and after consultation with plastic and pediatric surgeons, emergency debridement was performed and antibiotics were administered. Fortunately, the patient recovered uneventfully.
However, the patient presented with severe neutropenia. Human neutrophil antigen-1a autoantibody was detected and the patient was diagnosed with AIN. Antibody test revealed early stage Epstein-Barr virus (EBV) infection. Hence, it is possible that AIN was associated with EBV infection. Promptly dealing with compensated shock, diagnosing NF, and close cooperation with surgeons enabled the rescue of the patient. The possibility of NF must be considered while treating soft tissue infections. Sometimes, immunodeficiency is identified while treating severe infections.
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Case Report
Title
Development of Typhoid Fever in an Infant Receiving Oral Antibiotic Therapy for Asymptomatic Infection
Author
Takuto Ito Mitsuharu Kajita Ohoji Suzuki Genki Tsuji Daisuke Nishida and Masanobu Ikoma
Department of Pediatrics, Toyota Kosei Hospital
Abstract
A Family Health Infection survey performed by a public health center showed the isolation of Salmonella typhi from the stool of a 6-month-old female infant whose mother was diagnosed with typhoid fever. Thus, she was administered oral cefcapene pivoxil hydrochloride to treat the asymptomatic infection. However, she developed fever and diarrhea on the 9th day of treatment. Her blood culture was positive for Salmonella typhi; thus, she was admitted to our hospital on the 5th day of fever. She was successfully treated with intravenous cefotaxime for 14 days and was subsequently discharged. However, 2 weeks later, she showed relapse requiring rehospitalization. Salmonella typhi was isolated from both, stool and blood cultures. Treatment was initiated with intravenous cefotaxime because the drug susceptibility pattern resembled the initial infection. Given the pharmacokinetics of ceftriaxone, her antibiotic regimen was switched to intravenous ceftriaxone on the 3rd day of hospitalization. She was discharged after 14 days of antibiotic treatment. Fecal examinations were performed at the public health center, and clearance of infection was confirmed. In Japan, typhoid fever rarely occurs in infants. We report the development of typhoid fever in an infant during the course of antibiotic administration and recurrence after in-hospital treatment.
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Case Report
Title
Scurvy Presenting with Fever, Anemia, and Gait Disabilities in a Boy with Autism Spectrum Disorder
Author
Ryota Komori Takehiko Doi Kousuke Noma Satoshi Okada and Masao Kobayashi
Department of Pediatrics, Hiroshima University Hospital
Abstract
Scurvy, a disease of dietary vitamin C deficiency, is characterized by a variety of manifestations, including general weakness, anemia, oral gum disease, and skin hemorrhage. Particularly, scurvy in children includes swelling and pain in the lower extremities and lesions in growing bones. Even in developed countries, unbalanced diets associated with developmental disorders may lead to scurvy.
A three-year-old boy with autism spectrum disorder was referred for fever, anemia, and gait disabilities. He had an extremely unbalanced diet composed only of rice and bean paste. Blood examination revealed anemia and inflammatory response, suggesting malignant tumor or connective tissue disease. Lower limb X-ray showed permanent epiphysis and hardened metaphysis, while contrast computed tomography showed thigh muscle swelling and hematoma around the femoral bone cortex. Based on these findings, we diagnosed scurvy owing to an unbalanced diet. Subsequently, ascorbic acid was parenterally administered as the patient refused oral intake. Vitamin C concentration in the patient's serum before administration was extremely low. Further, chronic inflammation and folate deficiency resulted in chronic anemia. However, all the signs and symptoms of scurvy in the patient improved through appropriate nutrition.
Scurvy in children demonstrates inflammatory response in addition to hemorrhaging, implying its distinction from malignant tumors and connective tissue diseases. In addition, as vitamin C is involved in the absorption of other nutrients, this case suggests that an unbalanced diet accompanied by vitamin C deficiency may cause various malnutrition disorders presenting with unexpected manifestations.
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Brief Report
Title
Detection of Heterozygous Familial Hypercholesterolemia by Serum Lipid Profile Screening in Children Hospitalized at Furano Hospital, Japan
Author
Hitoshi Okubo Mami Kuroda Kumihiro Matsuo and Fujio Kakuya
Pediatrics, Furano Hospital
Abstract
Heterozygous familial hypercholesterolemia (HeFH) is the leading metabolic genetic disorder, with a prevalence of 1 in 200 to 1 in 500 individuals in a population. Despite high risk of premature coronary artery disease in patients with HeFH, the disorder remains underdiagnosed in Japan. This study aimed to investigate the incidence of HeFH in children hospitalized at Furano Hospital in a year. While one patient was definitively diagnosed with HeFH, one was suspected with HeFH based on the patient's familial medical history. Notably, investigating correct familial medical history was challenging in some cases. Overall, initiation of early and aggressive treatment of HeFH warrants prompt serum lipid profile screening in children.
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