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THE JOURNAL OF THE JAPAN PEDIATRIC SOCIETY
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Vol.127, No.6, June 2023
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Original Article
Title
Efforts in Rehabilitation Treatment at a Member Hospital of the Japanese Association of Children's Hospitals and Related Institutions and a Childhood Cancer Hub Hospital
Author
Hiroshi Mano1)2) Akira Suzuki2) Noriko Fujikawa2) Hiroe Yamamoto2) Fumiya Koide2) Mayumi Tachibana2) Kano Narutaki2) Chiharu Sudo2) Ai Suzuki2) Yuriko Yokoo2) Wakako Hakiri2) Emi Inakazu2) Kenichi Kitamura2) and Kenichiro Watanabe3)
1)Department of Rehabilitation Medicine, Shizuoka Children's Hospital
2)Room of Rehabilitation Medicine, Shizuoka Children's Hospital
3)Department of Hematology and Oncology, Shizuoka Children's Hospital
Abstract
We investigated the status of rehabilitation treatment for childhood cancer patients and those who had undergone hematopoietic stem cell transplantation for non-malignant diseases such as primary immunodeficiency syndrome between April 2010 and March 2022. After April 2020, when rehabilitation costs for patients with cancer could be billed at our hospital, rehabilitation treatment for these children increased both in terms of the number of units and the percentage of total rehabilitation treatment provided at our hospital. The duration to initiation of rehabilitation treatment was also shortened. However, the number of patients who continued to receive outpatient rehabilitation treatment after final discharge did not increase. Regarding adverse events in rehabilitation treatment, no cases of level 3b or higher occurred; however, some cases of level 3a or lower were observed, and falls and collisions were common. Advances in the system for providing medical treatment have increased the volume of rehabilitation intervention and led to earlier initiation. However, rehabilitation may not be adequately provided in outpatient settings due to several restrictions. Rehabilitation treatment can be performed safely enough if the conditions and environments of pediatric patients are adequately considered. This may improve quality of life during hospitalization and contribute to social life, activities, and participation after discharge. The future of rehabilitation medicine for pediatric cancer patients requires further scientific evidence and development of medical treatment systems.
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Original Article
Title
Usefulness of MRI and Genetic Analysis in the Diagnosis of Klippel-Trenaunay Syndrome
Author
Shiho Yasue1) Michio Ozeki1) Daichi Hayashi1) Akifumi Nozawa1) Saori Endo1) Kanako Kunieda2) Kazuya Sakaguchi3) Hiroki Kato4) Masayuki Matsuo4) and Hidenori Ohnishi1)
1)Department of Pediatrics, Graduate School of Medicine, Gifu University
2)ARTham Therapeutics, Inc.
3)Axcelead Drug Discovery Partners, Inc.
4)Department of Radiology, Graduate School of Medicine, Gifu University
Abstract
Klippel-Trenaunay syndrome (KTS) is a rare, complex malformation characterized by the clinical triad of (1) capillary malformations (port wine stain); (2) soft tissue and bone hypertrophy or, occasionally, hypotrophy of usually one lower limb; and (3) atypical, mostly lateral varicosity. Recently, KTS is known to be one of phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (PIK3CA)-related overgrowth spectrum caused by somatic activating mutations in the PI3Ka. From the results of genetic analysis, there are some cases having a discrepancy between the clinical and genetic diagnosis. In this study, we conducted the genetic analysis of 11 cases clinically diagnosed with KTS and retrospectively examined their clinical symptoms and MRI findings. Four of them had PIK3CA mutations and were diagnosed with (true) KTS. On the other hand, the remaining 5 cases had other mutations in RASA1, GNA11, TEK, GNAQ, MTOR genes, and were finally diagnosed with other vascular malformations and syndromes based on clinical symptoms and imaging findings. MRI of KTS patients revealed common features such as a highly mixed fat and dilated veins in vascular malformation localized under the skin. Our study suggested that MRI and genetic analysis may be useful for differentiating KTS from limb hypertrophy and vascular malformations with hypergrowth.
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Case Report
Title
Use of Ivabradine in an Infant with Idiopathic Dilated Cardiomyopathy
Author
Sorachi Shimada Koichi Nakau Keita Ito Yuki Sasaki Rina Imanishi Hideharu Oka and Satoru Takahashi
Department of Pediatrics, Asahikawa Medical University
Abstract
Ivabradine exerts a negative chronotropic effect without a negative inotropic effect, and it has proven to be beneficial in treating heart failure with reduced left ventricular ejection fraction in adults. However, reports discussing the use of ivabradine in children are limited, and there have not been reported cases of severe heart failure in Japanese infants.
We report the case of a male infant with idiopathic dilated cardiomyopathy diagnosed at 2 months of age. Upon admission, the infant was administered medications and high-flow nasal cannula therapy. His parents offered to withhold a heart transplant. However, even though cardioprotective drugs, including a β-blocker, were administered at the maximal tolerable dose, acute heart failure exacerbations were found to recur. Based on the recurrence, ivabradine was administered from 6 months of age. When the infant's heart rate decreased by approximately 20% without symptomatic bradycardia, intravenous and high-flow nasal cannula therapies were terminated. The infant was discharged at 4 months after he received ivabradine treatment.
We observed the effectiveness of ivabradine in infants with idiopathic dilated cardiomyopathy without bradycardia-related episodes.
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Case Report
Title
Cerebral Arteriovenous Malformation Initially Diagnosed as Bacterial Meningitis: A Case Report of a 13-year-old Adolescent
Author
Tamae Kato1) Yusuke Ando1) Itsumi Komori1) George Imataka1) Shigeko Kuwashima2) and Shigemi Yoshihara1)
1)Department of Pediatrics, Dokkyo Medical University
2)Department of Radiology, Dokkyo Medical University
Abstract
After the introduction of routine vaccinations against Haemophilus influenzae type b and Streptococcus pneumoniae, the number of cases of bacterial meningitis has decreased, especially in children. However, because of the high rates of mortality and severe neurological sequelae of bacterial meningitis, treatment should be initiated promptly once suspected. A wide variety of diseases present with symptoms similar to those of bacterial meningitis; thus, it is important to distinguish bacterial meningitis from those that require urgent intervention, such as cerebral hemorrhage, encephalitis, and encephalopathy.
A 13-year-old male presented with a chief complaint of fever and posterior neck pain. A lumbar puncture for cerebrospinal fluid (CSF) analysis was performed for the diagnosis of meningitis. CSF analysis showed bloody spinal fluid, low levels of sugar, and pleocytosis with a predominance of polymorphonuclear cells; thus, an initial diagnosis of bacterial meningitis was made, and antimicrobial treatment was initiated. However, at the time of initial examination, when the patient was conscious and had been suffering from posterior neck pain for four days and fever for three days, blood test results did not reveal any findings suggestive of a bacterial infection, and the spinal fluid multiplex PCR test did not detect any causative organism. Therefore, we considered the possibility that this patient did not have bacterial meningitis. A cranial MRI was performed to investigate the cause of the posterior neck pain, which revealed intraventricular hemorrhage. MR digital subtraction angiography (MR-DSA) revealed a small aneurysm in the left ventricle, and angiography confirmed a cerebral arteriovenous malformation in the left ventricular choroid plexus. Subsequently, embolization and gamma knife radiosurgery were performed, and the patient was discharged from the hospital without rebleeding or sequelae. Thus, even in cases where bacterial meningitis is suspected at the time of initial examination, if the results of blood test or culture test and clinical course are atypical, MRI and MR-DSA should be performed to investigate for other conditions.
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Case Report
Title
A 4-Year-Old Girl with Interleukin-1 Receptor-associated Kinase 4 Deficiency Who Died of a Second Pseudomonas Aeruginosa Infection
Author
Mikiko Shimabukuro Tomoko Uehara Suzuka Toguchi Tetsu Iha and Asao Yara
Department of Pediatrics, Naha City Hospital
Abstract
Interleukin-1 receptor-associated kinase 4 (IRAK4) is an important intracellular protein that mediates signal transduction from Toll-like receptors (TLRs). IRAK4 deficiency is an innate immunodeficiency disease in which the initial response to infection is delayed and bacterial infection becomes severe. IRAK4 deficiency is a rare autosomal recessively inherited disease with about 10 families in Japan.
A 4-year-old girl presented to the emergency department with fever, vomiting, and impaired consciousness. She was diagnosed with Pseudomonas aeruginosa meningitis and treated with antimicrobial agents, but died about one year later with irreversible brain damage. The patient had a history of Pseudomonas aeruginosa bacteremia at 9 months of age after an open intestinal stacking operation, but immunodeficiency was not suspected because the infection was considered to be a postoperative infection caused by surgical manipulation. We suspected IRAK4 deficiency based on the very slight elevation of white blood cell counts and C-reactive protein at the onset of meningitis and the delayed separation of the umbilical cord in the neonatal period, and made a definite diagnosis of IRAK4 deficiency by genetic test. In Okinawa Prefecture, the first case of IRAK4 deficiency was reported in 2010, and 7 cases in 5 families have been confirmed since then. Because of the high regional prevalence of IRAK4 deficiency, we started to investigate the possibility of early diagnosis of IRAK4 deficiency in newborns with delayed umbilical cord separation.
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Case Report
Title
Mild Phenotype POR Deficiency in a Patient with p.R457H and Frameshift Mutation
Author
Midori Saito1) Tomoko Lee1) Noriko Fukuda1) Keiko Homma3) Tomoko Tamaoki2)5) Maki Fukami6) Tomonobu Hasegawa4) and Yasuhiro Takeshima1)
1)Department of Pediatrics, Hyogo Medical University
2)Department of Genetics, Hyogo Medical University
3)Department of Clinical Laboratory, Keio University Hospital
4)Department of Pediatrics, Keio University School of Medicine
5)Takatsuki General Hospital Center for Clinical and Medical Genetics
6)Department of Molecular Endocrinology, National Research Institute for Child Health and Development
Abstract
P450oxidoreductase (POR) deficiency is a congenital disorder characterized by impaired adrenal steroidogenesis. The disease has an autosomal recessive mode of inheritance and presents with a wide array of symptoms. The present study describes a 12-year-old boy who presented with a mild clinical phenotype of POR deficiency.
The patient demonstrated limited movement in multiple joints along with a micropenis. His serum 17OHP levels on day 5 was 6.2 ng/mL. Additionally, his mother displayed masculine features during pregnancy. Moreover subclinical adrenocortical insufficiency was observed in the patient following an ACTH stimulation test (peak cortisol; 13.8 μg/dL). POR deficiency was further confirmed by urinary steroid profile testing and genetic analysis of the POR. The patient was found to be a probable compound heterozygous for the variants c. [1370G>A] and c. [1864_1865insAAGT] (p. [R457H]; [L622X] ), and his mother was confirmed to be a heterozygous carrier of the allele c. [1370G>A]. Unfortunately, the father could not be tested.
The mRNA with the c. [1864_1865insAAGT] variation is likely to escape Nonsense-Mediated mRNA Decay (NMD), which degrades mRNAs carrying variations that cause loss of function, thereby preventing synthesis of protein molecules with impaired activity. NMD is typically escaped in cases where immature termination codons are present on the 3' side of the final exon or 50−55 bases upstream of the penultimate exon, as in the case of c. [1864_1865insAAGT]. Consequently, an almost full-length protein that retains some enzymatic activity is probably being synthesized, which may account for the mild clinical manifestations seen in our patient as compared to those seen in other reported compound heterozygous cases with the R457H and null variants.
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Case Report
Title
Multisystem Inflammatory Syndrome in Two Siblings with Different Clinical Manifestations
Author
Manami Kawami Maki Nakazawa Hiroya Yokohari Tsuyoshi Nishibukuro Yoshinori Mishima Yukiko Kanna Shinya Asato and Isamu Kamimaki
Department of Pediatrics, National Hospital Organization Saitama Hospital
Abstract
Multisystem inflammatory syndrome in children (MIS-C) manifests as fever and gastrointestinal, mucocutaneous, and neurological symptoms. We describe our experience of treating two brothers, who developed MIS-C with different clinical manifestations. Both boys had been exposed to SARS-CoV-2 3 weeks before hospitalization.
The older brother was 13 years old. On the third day of fever, he was hospitalized owing to difficulty with oral intake. He had cervical lymphadenopathy and confusion. An electroencephalogram (EEG) performed on hospitalization day 2 showed a delta wave burst in the frontal area. On hospitalization day 4, he developed conjunctivitis, and changes in the oral mucosa and peripheral extremities. Based on these findings, he was diagnosed with MIS-C. His condition improved following intravenous immunoglobulin (IVIG) therapy. The delta wave burst absent in a follow-up EEG performed 6 months after discharge.
The younger brother was 11 years old. On the fourth day of fever, he was hospitalized with severe vomiting and abdominal pain. He had Kawasaki disease-like symptoms, without conjunctivitis, and was diagnosed with MIS-C. His condition did not improve following the first unit of IVIG therapy but improved after a second unit and administration of prednisolone.
Both boys had transient pericardial effusions and mitral regurgitation without coronary artery lesions. The younger brother had elevated interleukin (IL) -6 levels, whereas the older brother had elevated neopterin and IL-18 levels. These differences may be related to differences in results of pathogenic mechanisms and clinical manifestations.
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Case Report
Title
Three Cases of Eosinophilic Gastroenteritis Complicated by Duodenal Ulcer Requiring Long-term Treatment with Proton Pump Inhibitor
Author
Tatsuya Takahashi1) Hirotaka Shimizu2) Takako Yoshioka3) Toshifumi Yodoshi4) Takako Fujita5) Yoko Yamamoto2) Eri Miyata2) Hiroki Fujikawa2) Ichiro Takeuchi2) Akira Ishiguro1) Ichiro Nomura6) and Katsuhiro Arai2)6)
1)Center for Postgraduate Education and Training Center, National Center for Child Health and Development
2)Center for Pediatric Inflammatory Bowel Disease, Division of Gastroenterology, National Center for Child Health and Development
3)Department of Pathology, National Center for Child Health and Development
4)Department of Pediatrics, Okinawa Chubu Hospital
5)Department of Pediatrics, Fukuoka University Hospital
6)Division of Gastrointestinal Allergy, Allergy Center, National Center for Child Health and Development
Abstract
Eosinophilic gastrointestinal diseases are chronic inflammatory diseases in which eosinophils infiltrate the gastrointestinal tract, causing inflammation and dysfunction. In recent years, there have been scattered case reports of eosinophilic gastroenteritis complicated by duodenal ulcers, some of which are refractory cases with gastrointestinal perforation and severe anemia. However, reports summarizing the long-term course of treatment of patients with duodenal ulcer complications are limited. In the three cases we have encountered, large ulcers in the duodenal bulb were revealed on endoscopy in all cases. Biopsies of the duodenal bulbs showed marked eosinophilic infiltration, and the diagnosis of eosinophilic gastroenteritis complicated by duodenal ulcers was determined. In all cases, proton pump inhibitors showed a certain degree of effectiveness, but the patients had a refractory course with relapse of ulcers after tapering or discontinuation of the drugs. However, in two of the three cases, complete resolution of symptoms and healing of the ulcers were achieved with continued proton pump inhibitor therapy. Remission was maintained without the use of steroids for up to 11 years, with appropriate growth and quality of life maintained. On the other hand, the remaining case has remained refractory to treatment, with active ulcers remaining despite symptomatic improvement with continued proton pump inhibitor therapy. The number of patients with eosinophilic gastrointestinal diseases has been increasing in recent years, and the number of similar cases may increase in the future. Along with the clarification of the clinical picture, the development of more effective and safer treatments is desirable.
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Case Report
Title
A Pediatric Case of Systemic Lupus Erythematosus with IgA Vasculitis
Author
Miyuki Enoki1) Yuichi Yamasaki1) Takuro Mitsunobu1) Aki Nakamura1) Tomohiro Kubota2) Syuji Takei1) and Yasuhiro Okamoto1)
1)Department of Pediatrics, Kagoshima University Hospital
2)Department of Pediatrics, Kagoshima City Hospital
Abstract
Juvenile systemic lupus erythematosus (SLE) is associated with a higher frequency of lupus nephritis and more severe cases than adult SLE. A renal biopsy is performed in all pediatric patients to select a treatment strategy because of the presence of silent lupus nephritis with negative urinary findings in Japan. IgA vasculitis (IgAV) may present with purpura nephritis, but most cases resolve spontaneously, and a renal biopsy is performed only in patients with nephrotic syndrome, renal dysfunction, or persistent proteinuria. We report a case of a child with IgAV and SLE diagnosed at the same time. The patient was an 11-year-old girl. She presented with purpura, ankle pain, and abdominal pain, and was diagnosed with IgAV on the basis of her symptoms and course. On admission, hypocomplementemia, hematuria, proteinuria, and positivity for antinuclear antibody and anti-double-stranded-DNA antibody were found, leading to the diagnosis of SLE. A skin biopsy of the purpura showed IgA deposition in the vascular wall, and we concluded that the patient had IgAV and SLE. After a steroid pulse, a renal biopsy was performed, and she was diagnosed with lupus nephritis class IV+V. Her disease was stabilized with treatment of SLE. The results of a renal biopsy can affect the decision of treatment in SLE. Therefore, physicians should be alert to the presence of SLE when IgAV is diagnosed, and 'complement and autoantibodies' should be examined in cases of severe proteinuria or in older girls with anemia.
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