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THE JOURNAL OF THE JAPAN PEDIATRIC SOCIETY

Vol.126, No.8, August 2022


Original Article
1. Comparison of Pain Response between Automatic Lancet and 23 G Needle Puncture in According to Differences in Clinical Experience
2. Nutritional Evaluation of 4 People with Severe Physical and Mental Disabilities
Case Report
1. COL4A1-Related Disorder with Hyperechogenic Lesion Noted on Fetal Ultrasonography
2. Recurrent Cerebral Infarction Caused by Bow Hunter's Syndrome: A Case Report
3. A Child with Functional Urinary Retention and Acute Renal Failure Due to Psychological Factors Caused by Toilet Training
4. A Patient with Wolman Disease Exhibiting Bilateral Adrenal Calcification Treated with Enzyme Replacement Therapy for the First Time in Japan
5. A Case of Vitamin B12 Deficiency in a Teenager Following Intestinal Resection at Infancy
6. Umbilical Hernia Perforation Caused by Skin Ulceration in an Infant Treated with Adhesive Strapping
Brief Report
A Survey among Parents of Children with Type 1 Diabetes on Their Attitudes toward Nasal Glucagon Powder


Original Article
Title
Comparison of Pain Response between Automatic Lancet and 23 G Needle Puncture in According to Differences in Clinical Experience
Author
Tatenobu Goto1) Takeshi Inoue1) Chinami Hanai1) Tomoshige Tanimura1) Hiroyuki Kawabe1) Megumi Suyama1) Tomoki Goto1) Wakato Koide1) Kanemasa Maki1) Katsumi Ushijima1) Kyoko Ban1) and Yasumasa Yamada2)
1)Department of Pediatrics, Yokkaichi Municipal Hospital
2)Department of Perinatal and Neonatal Medicine, Aichi Medical University Sciences
Abstract
[Introduction] We compared the pain response of an automatic lancet and needle puncture in terms of years of clinical experience.
[Method] Subjects were infants who were born with a birth weight of more than 1, 500 g and at more than 30 weeks gestation. We retrospectively examined the crying time, number of squeezes, Neonatal Infant Pain Scale (NIPS) scores, blood collection time, and number of repunctures in heel blood sampling.
[Results] There were no significant differences in blood collection time, number of squeezes, or number of repunctures.
In the group with less than 3 years of clinical experience, there was no difference in crying time, but in the group with more than 4 years of clinical experience, crying time was shorter for the automatic lancet (median automatic lancet 0 sec, [IQR 0−11 sec] vs median needle puncture 28.5 sec, [IQR 4−55.75 sec]. p<0.001).
In the group with less than 3 years of clinical experience, no difference was found in NIPS scores during puncture, but in the group with more than 4 years of clinical experience, NIPS scores were lower for the automatic lancet (median automatic lancet 3, [IQR 0−5] vs median needle puncture 6, [IQR 4−7]; p<0.001).
[Conclusions] The automatic lancet was effective in reducing pain in heel blood sampling by physicians with more than 4 years of clinical experience.




Original Article
Title
Nutritional Evaluation of 4 People with Severe Physical and Mental Disabilities
Author
Shigeko Satomura1) Toshiaki Hashimoto1) Tadanori Nakatsu1) Natue Sonoki2) Takako Yamazi2) Yoko Sakaguchi2) Yutarou Miyagi2) and Eiji Takeda2)
1)Department of Pediatrics, Japanese Red Cross Tokushima Hinomine Rehabilitation Center for People with Disabilities
2)Kenshokai Gakuen College for Health and Welfare
Abstract
In the present study, we examined the physical constitution, blood biochemistry, body composition, skeletal muscle function, intake of nutrients, and urinary excretion rate for specific nutrients in 4 people with severe physical and mental disabilities. These subjects were short statured and thin with low skeletal muscle mass (kg, kg/m2) and body fat mass (kg), which were indicative of sarcopenia or cachexia. Although their nutrient intake met the required energy level, they were deficient in vitamin D and showed low-level urinary calcium and phosphorus excretions. These findings suggest that people with severe physical and mental disabilities require additional levels of physical activities and vitamin D.




Case Report
Title
COL4A1-Related Disorder with Hyperechogenic Lesion Noted on Fetal Ultrasonography
Author
Nozomi Omori Takehiro Homma Yukiko Osawa and Toshimasa Obonai
Department of Pediatrics, Tama-Hokubu Medical Center
Abstract
The COL4A1 gene encodes the alpha 1 chain of type IV collagen, which composes the basement membrane of systemic blood vessels. COL4A1-related disorders vary phenotypically, even amongst individuals with the same mutation, and genotype-phenotype correlations remain unclear.
We report a case of a 2-month-old male infant with a novel COL4A1 heterozygous missense mutation (c.2450 G> T p. (Gly817Val) ). No specific abnormality was noted at perinatal and one-month checkup. At 2 months of age, he presented to the hospital with prolonged apneic episodes and cyanosis, which was judged to be convulsive status epilepticus.
A computed tomography scan showed ventriculomegaly and calcification around the lateral ventricles; microbiological examination ruled out congenital infection. Fetal intracranial hemorrhage was suspected based on a hyperechogenic lesion noted on ultrasonography at 31 weeks of gestation. Genetic testing revealed a COL4A1 mutation, and the patient was diagnosed with a COL4A1-related disorder.
Recently, the number of reported COL4A1-related disorders has increased rapidly, with many cases of porencephaly caused by fetal intracranial hemorrhage. Many such cases are diagnosed after finding ventriculomegaly on fetal ultrasonographies. In the present case, we confirmed the suspicion of intracranial hemorrhage in the perinatal history. It is important to consider COL4A1-related disorders when intracranial hemorrhage is suspected in the fetal period.




Case Report
Title
Recurrent Cerebral Infarction Caused by Bow Hunter's Syndrome: A Case Report
Author
Yuta Sudo1)2) Takanori Suzuki1) Mahito Atobe3) Masayuki Hirai2) Daijiro Suzuki1) Arisa Kojima1) Hidetoshi Uchida1) Kazuyoshi Saito1) Tadayoshi Hata1) Noriko Ishihara1) Ichiro Nakahara4) and Tetsushi Yoshikawa1)
1)Department of Pediatrics, Fujita Health University
2)Department of Pediatrics, Kariya Toyota General Hospital
3)Department of Neurology, Aichi Children's Health and Medical Center
4)Department of Comprehensive Strokology, Fujita Health University
Abstract
This report presents the case of a naturally healthy 7-year-old boy who complained of dizziness and headache and vomited 2 hours after falling during a physical education class. He visited a nearby physician, and magnetic resonance imaging (MRI) revealed a cerebral infarction in his left cerebellar hemisphere. Three months later, follow-up MRI revealed a 1-minute cerebral infarction in his right parietal lobe and right cerebellar hemisphere. At 4 months, dizziness and vomiting recurred. MRI detected a cerebral infarction in the left cerebellar hemisphere again. The patient had three episodes of cerebral infarction; he was referred to our hospital for further examination, including cerebral angiography. The Department of Comprehensive Strokology revealed stenosis of the left vertebral artery resulting from right twist of the neck and dissection of the intima. Thus, he was diagnosed with multiple cerebral infarction secondary to Bow Hunter's syndrome against the background of vertebral artery dissection. In conclusion, Bow Hunter's syndrome should be considered when the cause of cerebral infarction is unknown.




Case Report
Title
A Child with Functional Urinary Retention and Acute Renal Failure Due to Psychological Factors Caused by Toilet Training
Author
Airi Yoshida Seiji Tanaka Yusuke Hiyoshi Naoya Tsumura Yutaro Kubo Junichiro Araki Ryuta Nishikomori and Yushiro Yamashita
Department of Pediatrics and Child Health, Kurume University School of Medicine
Abstract
Urinary retention in children is rare and difficult to diagnose in the early stages because of the chief complaint of lower abdominal pain. The causes of urinary retention may be infectious, mechanical, neurogenic, traumatic, functional, or idiopathic, and should be investigated by interview, imaging studies, and urodynamic studies (UDS). In children, diagnosis may be delayed due to inability to express symptoms well, and postrenal renal failure may occur. A 3-year-old girl complained of pain in the lower abdominal and genital area after the start of toilet training, followed by urinary retention and renal dysfunction. Renal dysfunction rapidly improved with urinary continence, and urinary retention gradually decreased, allowing the patient to urinate on her own. From the interview and examination, it was considered that the patient had functional urinary retention due to psychological factors of severe toilet training. Acute urinary retention should be considered in the diagnosis of lower abdominal and pubic pain in children. Early initiation of urinary continence is important for the protection of bladder and renal functions. Toilet training instruction for parents should include knowledge (knowing the interval between urination and the posture of the child just before urinating), encouragement (encouraging the child to go to the toilet regularly), and praise (praising the child when they urinate successfully). It is important not to be impatient or angry when urination do not go well, but to make sure that the child does not dislike using the toilet.




Case Report
Title
A Patient with Wolman Disease Exhibiting Bilateral Adrenal Calcification Treated with Enzyme Replacement Therapy for the First Time in Japan
Author
Ami Morimoto1)2) Naoki Hashimoto1) Yoko Iida1) Atsuko Nakano1) Ken Takagawa1) Daisuke Tokuhara3)4) Yuki Yamada5) Tohru Yorifuji5) and Toshiyuki Sakai1)
1)Department of Pediatrics, Kokuho Chuo Hospital
2)Department of Pediatrics, Nara Medical University Hospital
3)Department of Pediatrics, Wakayama Medical University
4)Department of Pediatrics, Osaka Metropolitan University
5)Department of Pediatric Endocrinology and Metabolism, Osaka City General Hospital
Abstract
Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disease characterized by loss of LAL activity with consequent accumulation of lipids in tissues throughout the body. Infantile-onset LAL-D is referred to as Wolman disease (WD). Most infants diagnosed with WD die within 6 months of birth; however, enzyme replacement therapy (ERT) using recombinant human LAL (sebelipase alfa) has shown to improve survival rates. A 50-day-old female infant presented with fever, poor sucking, and vomiting. Evaluation showed abdominal distention, failure to thrive, liver dysfunction, and dyslipidemia. Computed tomography revealed bilateral adrenal calcification and massive hepatosplenomegaly. The patient was diagnosed with WD based on extremely low levels of LAL activity on dried blood spot analysis. Her symptoms improved following ERT. We report the first case of WD successfully treated using ERT and the 15th case in 17 years in Japan. Compared with the international incidence, few studies have reported WD in Japan; it is possible that some cases may have been missed or misdiagnosed. LAL activity should be measured in patients with suspected WD.




Case Report
Title
A Case of Vitamin B12 Deficiency in a Teenager Following Intestinal Resection at Infancy
Author
Masato Kozumi Rieko Sakamoto Daisuke Katayama Hiroshi Mitsubuchi and Kimitoshi Nakamura
Department of Pediatrics, Kumamoto University Hospital
Abstract
Vitamin B12 (VB12) deficiency affects growth and mental development in children. Therefore, it is important to diagnose VB12 deficiency early.
Our patient was an 11-year-old girl. Her gestational age at birth was 34 weeks, and she underwent ileectomy and ileocecal resection at a previous hospital due to ileal perforation when she was 1 month old. She had a good post-operative clinical course, and was discharged at the age of 3 months. After discharge, she continued to make outpatient visits to our hospital until the age of 7. Her prognosis during this period was good. She developed a dislike for protein diets when she was 10. When she was 11, she presented to our hospital due to gait disturbance; she often stumbled when walking.
On physical examination, lingual papilla atrophy, elimination of the tendon reflex of both inferior limbs, and distal muscle atrophy were noted. Her blood VB12 concentration was extremely low, and her homocysteine levels were elevated. Her haemoglobin concentration was within the normal limit; however, her mean corpuscular volume was high. From physical examination and blood examination data, subacute combined degeneration of the spinal cord due to VB12 deficiency was suspected. Consequently, she was placed on a starting dose of 1,000 μg/day mecobalamin. Although her deep tendon reflexes increased, her gait disturbance improved after 8 months.
Despite an extended period after intestinal resection, there is a concern of VB12 deficiency in children, especially during the growth phase.




Case Report
Title
Umbilical Hernia Perforation Caused by Skin Ulceration in an Infant Treated with Adhesive Strapping
Author
Hiroyuki Esaki1) Yuriko Matsuo1) Yoshikazu Otsubo1) and Yusuke Yamane2)
1)Department of Pediatrics, Sasebo City General Hospital
2)Department of Pediatric Surgery, Nagasaki University Hospital
Abstract
Umbilical hernias are commonly observed among infants. After the year 2000, adhesive strapping has been positively recommended for its repair in the said patient population. Skin irritations often occur as a result of the treatment, but other complications are very rare. In this report, we describe the case of a 2-month-old male infant (born at 35 weeks gestation; weight = 1,559 g; small for gestational age) who developed a skin ulcer and a perforation in his umbilical hernia because of adhesive strapping. He was initially referred to our hospital presenting with a fever. He had an existing umbilical hernia with abdominal distention that was treated with a commercial tool (urethane foam) 5 days before admission. Upon the patient's admission, we observed a mild skin ulcer in the umbilical region. On day 3, the hernia perforated, and a sliding visceral organ that appeared to be the appendix was observed. Emergency surgery was performed to resolve the perforation. Adhesive strapping may cause a deficiency of blood flow to the skin and ulcer, which in turn make the skin vulnerable. Furthermore, skin vulnerability and abdominal pressure may lead to hernia perforation. Although severe complications very rarely occur after adhesive strapping treatment in infants, the importance of regular skin monitoring by a doctor and awareness of other complications, should be discussed with the parents for prevention and early detection.




Brief Report
Title
A Survey among Parents of Children with Type 1 Diabetes on Their Attitudes toward Nasal Glucagon Powder
Author
Yuko Tanabe1) Naohiro Nomura1) Miki Minami1) Hirohiko Higashino2) Junji Takaya3) and Kazunari Kaneko1)
1)Department of Pediatrics, Kansai Medical University
2)Higashino Clinic
3)Kawachi General Hospital
Abstract
In Japan, the treatment of severe hypoglycemia in type 1 diabetic patients had been limited to glucagon injections by bystanders until October 2020 when nasal glucagon powder was approved by the Japanese government. In this study, a questionnaire survey was conducted among 17 parents of patients under high school age with type 1 diabetes who had never used nasal glucagon powder, to evaluate the changes in parents' attitude toward the treatment of severe hypoglycemia. The results suggest that administering glucagon injections for severe hypoglycemia was a psychological burden for parents and that the availability of nasal glucagon alleviated parents' concerns about severe hypoglycemia.




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