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THE JOURNAL OF THE JAPAN PEDIATRIC SOCIETY
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Vol.127, No.7, July 2023
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Original Article
Title
An Investigation of Appropriate Retrograde Portography in Children
Author
Taisuke Matsumoto Toshikatsu Tanaka Aya Kondo Hiroyuki Nagao Yasunobu Miki and Michio Matsuoka
Department of Cardiology, Kobe Children's Hospital
Abstract
Background: It is important to assess the morphology of the intrahepatic portal vein in diseases with portal hypertension and portosystemic shunts. We are actively performing retrograde portal angiography at our hospital, but we have not yet established an appropriate examination method protocol.
Purpose: The purpose of this study was to establish an appropriate examination method for retrograde portal angiography.
Materials and methods: We retrospectively examined the medical records of a total of seven retrograde portal angiography cases performed at our hospital between 2015 and 2020.
Results: The sheath was inserted into either the femoral vein (2 times) or the internal jugular vein (5 times). The amount of contrast medium used was 0.2−0.7 (median 0.4) mL/kg/dose, and the injection time was 1.9−3.3 (median 2.7) seconds. In one case of femoral vein puncture, the catheter detached from the hepatic vein during imaging. In the first case, a wedge pressure catheter was used, but sufficient contrast was not achieved through balloon closure or not; therefore, contrast catheter was introduced and provided a sufficient image.
Discussion: When using the femoral vein approach, the combination of anatomical characteristics of the hepatic vein and pressure from injecting the contrast medium increased the likelihood for the catheter to dislodge. We also felt the finer wedge pressure catheter could not be used due to the possible lack of sufficient contrast agent, possibly causing poor contrast.
Conclusion: We found the approach from the internal jugular vein to be the most effective examination method in retrograde portal vein angiography. Additionally, we found the use of a contrast-enhanced catheter, injection of approximately 0.4 mL/kg/dose contrast medium, and an injection rate of around 2.7 seconds to be effective strategies.
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Case Report
Title
Importance of Family History in Diagnosing Gaucher's Disease
Author
Hiroki Yokohata1) Ayako Tanimoto1) Yuji Fujii1) Ayaka Ono1) Tomoki Sato1) Kasumi Sasaki1) Rika Okano1) and Aya Narita2)
1)Department of Pediatrics, Hiroshima City Funairi Citizens Hospital
2)Division of Child Neurology, Tottori University Hospital
Abstract
Mutations of glucocerebrosidase (GBA) are a proven risk factor for Parkinsonism. We present a patient with Gaucher's disease having a family history of young-onset Parkinson's disease (PD). A 2-year-3-month-old boy had been developmentally retarded since the age of 6 months. He presented with symptoms of chronic diarrhea, stridor, and hepatosplenomegaly when he was 1.1 years old. His grandfather had young-onset PD, which led to the suspicion of Gaucher's disease in this case. GBA deficiency was determined by the enzyme activity assay of lymphocytes, and the patient was thus diagnosed with neuronopathic Gaucher disease. Enzyme replacement therapy with velaglucerase alfa was initiated, and chronic diarrhea, stridor, and hepatosplenomegaly showed improvement. GBA screening revealed a compound heterozygous mutation (D409H/R120W) known to be an effective target for pharmacological chaperone therapy with ambroxol. Treatment with ambroxol was initiated, and his developmental delay showed improvement. Genetic analysis showed that both parents were carriers of the GBA mutation; correspondingly, the patient was found to be at risk of developing Parkinsonism. Pharmacological chaperon therapy may be effective for treating PD in cases of selective GBA mutations but warrants future research. The family history of such patients could be vital for diagnosis, prediction of the carrier's risks, and initiation of appropriate treatment.
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Case Report
Title
Piriform Sinus Fistulae in a Neonate Cured by Early Diagnosis and Treatment with No Ventilator Management
Author
Ikushi Shimomura1) Koji Nakae1) Takanari Abematsu1) Kentaro Ueno1) Shun Onishi2) and Yasuhiro Okamoto1)
1)Department of Pediatrics, Kagoshima University Hospital
2)Department of Pediatrics Surgery, Kagoshima University Hospital
Abstract
A 4-day-old male neonate presented with an elastic, soft, and mobile mass of 50 mm on the left side of the neck without obvious respiratory impairment and was admitted to our hospital. A diagnosis of neonatal piriform fistula was made using neck ultrasonography and contrast-enhanced computed tomography. We began continuous drainage of the cyst and treated the patient with antimicrobial agents. On day 14, under endoscopic guidance, a guidewire was inserted into the piriform sinus fistula and a skin incision was made just above the cyst to aid in cystectomy. The patient was discharged on day 36. Piriform sinus fistulae are a rare disease, with few reports of neonatal cases. Neonates are at high risk of developing respiratory distress, and infection of the piriform sinus fistula may occur. Antimicrobial therapy should be considered in the neonatal period because of the risk of severe respiratory symptoms owing to inflammation and abscess formation. Because it is important to identify and close the fistula through surgery, we confirmed the presence of the fistula using a guidewire and promptly performed surgery. As a result, the patient could recover completely without complications. Although piriform sinus fistula in the neonatal period is rare, it can be associated with severe respiratory distress. Whenever a neck mass is found, it is important to consider this disease as a possible differential diagnosis. Early diagnosis and prompt treatment can lead to favorable outcomes.
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Case Report
Title
A Case of Perinatal Benign Hypophosphatasia Treated with Enzyme Replacement Therapy from Infancy
Author
Kei Suzuki1) Mitsuhiko Riko1) Kouhei Shinozaki1) Kentaro Hirayama1) Yuri Murayama1) Tomoya Tsuchihashi1) Takayuki Suzuki1) Takuya Sugimoto1) Takeshi Kumagai1) Daisuke Tokuhara1) Yasuhisa Ohata2) and Keiichi Ozono2)
1)Wakayama Medical University, Department of Pediatrics
2)Osaka University, Department of Pediatrics
Abstract
The patient was a girl who was born at 40 weeks and 1 day of gestation. Shortening of limbs and deformity of long bones were detected during the fetal period, and she was managed in the NICU immediately after birth. Her birth weight (3,345 g; 1.0 SD) and height (48 cm; 0.8 SD) were both standard, and with no respiratory disturbances or abnormal neurological findings, perinatal benign hypophosphatasia was strongly suspected based on marked limb shortening, bone curvature, low serum ALP levels, and high urinary Phosphoethanolamine (PEA) levels. After genetic testing confirmed the diagnosis, enzyme replacement therapy with Asfotase alfa was introduced at 2 months after birth. At 12 months of age, standard level growth, age-appropriate motor development, and improvements in X-ray findings were observed. Enzyme therapy with Asfotase alfa is known to be effective in improving the prognosis of severe types of hypophosphatasia (HPP). In this case, early introduction of enzyme replacement therapy for perinatal benign-type HPP showed to be potentially effective in improving growth and motor development.
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Case Report
Title
An Infantile Case of Hereditary Interstitial Pneumonia Treated with Morphine for Refractory Cough
Author
Keiko Funata1) Nobuyuki Yotani2) Naotaka Tamai1) Makiko Fuyuki3) and Goro Koinuma1)
1)Division of Pulmonology, National Center for Child Health and Development
2)Department of Palliative Medicine, National Center for Child Health and Development
3)Department of Pediatrics, Osaka Developmental Rehabilitation Center
Abstract
Reports on the efficacy of morphine for dyspnea associated with chronic respiratory diseases are plenteous in adults but scarce in children with neurological impairment. We encountered a case of infantile hereditary interstitial pneumonia with intractable cough, in which continuous morphine administration was effective for cough relief. A baby girl with an uneventful perinatal history was transferred to the previous hospital due to the onset of vomiting on day 12, which was complicated with dyspnea and hypoxemia. She was diagnosed with hereditary interstitial pneumonia caused by SFTPC mutation. She was highly refractory to medications, and the frequency of desaturation and tachycardia with cough attacks gradually increased. Due to sedative management difficulties at 3 months, continuous morphine administration was initiated at 2 μg/kg/hr. The frequency of desaturation during the cough attacks decreased, and morphine was considered effective. However, the cough attacks gradually worsened and were controlled by increasing the morphine dosage appropriately. At 15 months, the dosage had been increased to 140 μg/kg/hr, and there were no side effects besides urinary retention. The morphine dosage was adjusted according to the frequency of drops in oxygen saturation, pulse rate, and respiratory rate during cough attacks. Good control was achieved, and the patient was able to spend a peaceful time with her family. This case serves to accumulate experience and examine the effectiveness and appropriate dosage of morphine for refractory cough in pediatric patients with chronic respiratory disease.
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Case Report
Title
Diagnostic Error in an Infant Presenting with Cardiogenic Shock in the Ongoing COVID-19 Pandemic
Author
Tomoko Ohira Kohei Otomi Shigeki Ishii and Keigo Nakatani
Department of Pediatrics, Miyazaki Prefectural Miyazaki Hospital
Abstract
Coronavirus infection 2019 (COVID-19) largely changed our daily life and greatly affected the pediatric healthcare system. During the ongoing COVID-19 pandemic, we experienced the case of an infant with cardiogenic shock who needed to undergo resuscitation due to a diagnostic error.
The case was a female infant aged 5 months who visited our hospital by ambulance for chief complaints of vomiting and an ill complexion which developed around noon on the day of the visit. This patient presented just when the sixth wave of the COVID-19 pandemic had begun. The father of the patient was known to have had very close personal contact with another COVID-19 patient at that time and the father also demonstrated symptoms of COVID-19. As a result, the patient was determined to be a high-risk patient for COVID-19. After the infant arrived at our hospital, a pediatric resident physician and a nurse began to examine the patient while, at the same time, a medical instructor observed their medical procedures through a glass while standing outside of the depressurized room. One hour after arrival, the patient went into cardiopulmonary arrest. Since a significant enlargement of the heart was suggested by a chest X-ray examination and left ventricular dilatation and decreased cardiac contractility were confirmed by cardiac ultrasonography, cardiogenic shock was suspected. It was later found that the patient showed signs of shock, such as ill complexion and peripheral coldness, upon arrival at the hospital. However, at that time, the medical instructor considered that the patient might have gastroenteritis based on favorable systemic conditions (a premature establishment of a diagnosis). The medical instructor did not change the diagnosis even after obtaining data on hepatic enlargement (anchoring bias). In addition, the medical staff was not aware of the fact that the infant had fallen into a state of shock (diagnostic error).
During the COVID-19 pandemic, attention should be paid to many factors in the emergency outpatient department. This complex situation therefore let to the occurrence of many diagnostic errors. We should continuously make efforts to avoid any undue cognitive biases and thereby reduce the occurrence of diagnostic errors in daily clinical practice.
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