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THE JOURNAL OF THE JAPAN PEDIATRIC SOCIETY
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Vol.129, No.11, November 2025
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Review
Title
Pathogenesis and Treatment of Citrin Deficiency
Author
Kiyoshi Hayasaka
Department of Pediatrics, Yamagata University School of Medicine
Abstract
Citrin deficiency, an inherited disorder caused by the SLC25A13 mutation, manifests as neonatal intrahepatic cholestasis (NICCD), failure to thrive and dyslipidemia (FTDCD), and adult-onset type 2 citrullinemia (CTLN2). Citrin is an aspartate-glutamate transporter expressed mainly in the liver and constitutes a malate-aspartate shuttle that is essential for glycolysis. Hepatocytes of citrin deficiency have a primary impairment of glycolysis and a secondary impairment of the citric acid cycle, lipogenesis, and β-oxidation. Hepatocytes are unable to utilize glucose and free fatty acids as energy sources, resulting in energy deficiency. In addition, oxidative/endoplasmic reticulum stress and hyperammonemia may contribute to the disease progression. Medium-chain triglyceride (MCT) supplement therapy is an effective treatment that provides energy to hepatocytes, promotes lipogenesis, increases cytoplasmic aspartic acid, and improves redox via the malate-citrate shuttle. However, an improvement in gluconeogenesis is not expected. To prevent irreversible damage such as recurrent hypoglycemia, growth disturbances, and CTLN2 development, a diet containing more than the minimal carbohydrate requirements, along with prompt MCT supplementation, is recommended. Regarding glucose toxicity, osmotic agents containing glycerol and fructose are contraindicated, but high-concentration glucose, including hyperalimentation, can be administered without problems if hyperglycemia is avoided. In patients with diabetes mellitus, blood glucose control is essential.
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Original Article
Title
Analysis of Cardiac-Related Mortality with Trisomy 18 Who Underwent Cardiac Surgery More than 5 Years Ago
Author
Kaoru Osaki1)2) Masahiro Tahara3) Kouki Mitogawa2) Risa Morita2) Kotaro Urayama2) and Kazunori Yamada4)
1)Department of Pediatrics, JA Onomichi General Hospital
2)Department of Pediatrics, Tsuchiya General Hospital
3)Hiroshima Central Street Children's Clinic
4)Department of Cardiovascular Surgery, Tsuchiya General Hospital
Abstract
Cardiac surgery for congenital heart disease (CHD) has improved the short-term prognosis in patients with trisomy 18 (T18). This study examined 34 patients with T18 complicated by CHD who underwent pulmonary artery banding between April 2009 and March 2019.
We classified the patients into Group A (13 patients: survival > 5 years) and Group D (21 patients: survival < 5 years). Group D was further classified into Group DC (9 patients: cardiac-related deaths) and Group DN (12 patients: non-cardiac-related deaths).
The postoperative survival discharge rate was 94%. The median survival period was 37.5 months. The gestational age and birth weight were significantly higher in Group A than in Group D (39 vs. 37 weeks, 1,954 vs. 1,746 g, respectively) (p<0.05). The rate of body weight gain within the first year was better in Group A than in Group D (+178.8 vs.+121.9 g/month, respectively). The median pulmonary-to-systemic pressure ratio was 1.00, 0.74, and 0.81 preoperatively, and 0.51, 0.38, and 0.38 postoperatively in Group DC, DN, and A+DN, respectively. Histopathological findings from lung biopsies showed that HE classification Grade 3 or higher was observed more frequently in Group DC (50%) than in Group DN (11%) and A+DN (11%).
In patients with T18 complicated by CHD and high pulmonary blood flow, intracardiac repair should be considered with greater caution, especially in cases with poor weight gain after palliative surgery and residual pulmonary hypertension.
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Original Article
Title
Real-world Data Analysis of the Number and Indications of Computed Tomography Examinations for Minor Head Injuries in Children Under Six Years of Age in Japan
Author
Shoko Shimokawa1) Kenta Murotani2) Tetsuya Ioji2) and Motohiro Morioka1)
1)Department of Neurosurgery, Kurume University School of Medicine
2)Biostatistics Center, Kurume University
Abstract
[Objective] This study aimed to investigate the number and indications of computed tomography (CT) examinations performed for minor head injuries in children under six years of age in Japan.
[Materials and Methods] The number of CT examinations and the reason for these examinations were examined in outpatient receipts from the Health Insurance Claims Review & Reimbursement services between April 1, 2022, and March 31, 2023. Four factors (patients' sex, and age, size, and prefecture of medical facilities visited) were examined for their association.
[Result] A total of 15,066 CT examinations were conducted annually for minor head injuries in children under six years of age in Japan. Among these, 66.7% were performed at the "family's request." The number of CT scans performed for this reason increased with the child's age but decreased with the size of the medical facilities. A positive correlation was found between the number of CT examinations per prefecture and the number of examinations performed at the "family's request."
[Discussion] In Japan, numerous CT scans were performed at the "family's request." To reduce medical exposure, the use of diagnostic algorithms must be further encouraged. As these children are seen in various healthcare settings, ranging from small clinics to large hospitals, guidelines must be shared widely.
[Conclusion] A significant number of CT scans for minor head injuries in young children in Japan are driven by family requests, highlighting the need for better strategies to ensure appropriate CT use and minimize unnecessary radiation exposure.
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Case Report
Title
Sudden Heart Rate Reduction and Prolonged Bradycardia after Dexmedetomidine Sedation: A Pediatric Case
Author
Saho Yokozeki1)2) Mari Saito1) Yutaka Kikuchi1) Yusuke Hashimoto1) Shinya Fukuda1)2) Ai Kanda1)2) Karen Shimoda1)2) Mami Hiwada1)2) and Masaru Hoshina1)
1)Department of Pediatrics, Haga Red Cross Hospital
2)Department of Pediatrics, Jichi Medical University
Abstract
Dexmedetomidine is a centrally acting α2-adrenergic receptor agonist that has recently received approval as a sedation agent in non-intubated pediatric patients. This expanded indication is expected to increase the use of dexmedetomidine by pediatricians who are not specialized in anesthesia or sedation management. We encountered a case involving a 9-year-old boy who underwent electroencephalography under dexmedetomidine sedation. After sedation was discontinued, he regained consciousness and was able to walk and urinate. However, he subsequently experienced bradycardia with impaired consciousness, and second-degree atrioventricular (AV) block was frequently observed.
The episode was presumed to be mediated by dexmedetomidine's parasympathomimetic properties and its inhibitory effects on cardiac conduction. Notably, these effects may persist even at low plasma concentrations, particularly in the context of delayed clearance secondary to reduced cardiac output. This case underscores the necessity for vigilant post-sedation monitoring, especially during initial physical activity, which may reveal residual sympatholytic effects. Furthermore, clinicians should recognize the potential for prolonged pharmacodynamic activity in the setting of sustained bradycardia. Awareness of these characteristics is essential for the safe administration of dexmedetomidine in pediatric sedation.
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Case Report
Title
Central Nervous System Relapse of Precursor B-cell Acute Lymphoblastic Leukemia Diagnosed Following a Central Sleep Apnea Attack
Author
Yuki Fushimi1)2) Naoyuki Miyagawa1) Eri Hirota1) Kazuki Asai1) Akiko Hayashi1) Dai Keino1) Tomoko Yokosuka1) Satoshi Hamanoue1) Fuminori Iwasaki1) Hiroaki Goto1) Koji Tanoue2) Takao Deguchi3) and Masakatsu Yanagimachi1)
1)Department of Hematology and Oncology, Kanagawa Children's Medical Center
2)Department of General Medicine, Kanagawa Children's Medical Center
3)Department of Pediatric Oncology and Immunodiagnosis, National Center for Child Health and Development
Abstract
Sleep apnea is classified into two types: central sleep apnea (CSA), caused by abnormalities in the respiratory center; and obstructive sleep apnea (OSA), caused by physical blockage of the airway. CSA is the most common type of sleep apnea in newborns and infants, while OSA is more common in older children. However, CSA is known to occur in patients with specific underlying diseases. We encountered a case of a young child who was diagnosed with a central nervous system relapse of precursor B-cell acute lymphoblastic leukemia (BCP-ALL) triggered by CSA attacks. The patient was a 6-year-old boy with a history of BCP-ALL. He was referred to our hospital due to chief complaints of headache, vomiting, and sleep apnea. The sleep apnea attacks met the diagnostic criteria for CSA, ruling out OSA. After thorough investigation into the cause of the CSA, the cerebrospinal fluid examination revealed apparent involvement of the central nervous system. Therefore, he was diagnosed with central nervous system relapse of BCP-ALL. After receiving weekly intrathecal chemotherapy, the apnea attacks subsided along with improvements in the cerebrospinal fluid test results. The CSA attacks were thought to be due to the central nervous system relapse of BCP-ALL. When CSA attacks are observed in patients with leukemia, we should consider central nervous system invasion and proceed to disease-specific examinations.
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