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THE JOURNAL OF THE JAPAN PEDIATRIC SOCIETY
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Vol.128, No.9, September 2024
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Review
Title
Prolonged Survival with Diagnosed Hydranencephaly: A Report of Two Cases and Review of the Literature
Author
Ai Hayashi1) Daisuke Kinoshita1) Mariko Sunada1) Kouichi Tanda2) and Akira Nishimura1)2)
1)Department of Neonatology, Japanese Red Cross Kyoto Daiichi Hospital
2)Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital
Abstract
Hydranencephaly is a rare brain congenital malformation in which most of the cerebral hemispheres are replaced by a membranous sac. Patients with hydranencephaly are presumed to have a markedly reduced life expectancy. However, prolonged survival, although rare, has been reported among patients with this condition.
Herein, we report cases of two girls with hydranencephaly who have survived for 8 years and 4 years, respectively. Both children were radiologically diagnosed with hydranencephaly before birth. Both children experienced severe psychomotor retardation and are bedridden. The first child underwent laryngotracheal separation to prevent aspiration at 6 years of age and requires home mechanical ventilation. She is fed by a nasogastric tube. The second child does not require respiratory or feeding support. Both underwent ventriculoperitoneal shunt placement.
We reviewed reports published between 2000 and 2022 to ascertain the clinical features of hydranencephaly. We studied 45 reports describing 57 patients. To the best of our knowledge, 59 patients with hydranencephaly, including the 2 patients reported herein, have been described in the literature. Moreover, 25/59 (42%) patients survived for over 12 months. The need for medical support varied depending on the patient. Long-term survivors frequently require treatment because of hydrocephalus. Thus, it is necessary to find objective indicators that can predict the likelihood of long-term survival and the need for medical support.
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Original Article
Title
Evaluation of Hemophilic Arthropathy by Ultrasonography in Patients with Severe Hemophilia
Author
Yuji Miyajima Toshiki Takeo Genki Tsuji Daisuke Omori Michio Suzuki Tatsuya Fukasawa and Tetsuo Kubota
Department of Pediatrics, Anjo Kosei Hospital
Abstract
In this study, we evaluated the joint status of patients with hemophilia using joint ultrasonography. Nine patients (mean age, 16.4 years) with severe hemophilia were enrolled. Joint ultrasonography was performed in the absence of joint bleeding. In each patient, six joints (bilateral elbows, knees, and ankles) were evaluated according to the Hemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) scoring method; synovial effusion was also evaluated. Among all 54 joints evaluated, 41% had abnormal findings (synovial effusion in 19%, synovial hypertrophy in 20%, and cartilage erosion in 2%). By joint site, abnormal findings were found in 6% of elbow joints, 44% of knee joints, and 72% of ankle joints. Synovial effusion was found in 6% of the elbow joints, but none were positive for the HEAD-US criteria. Synovial effusion was found in 22% of the knee joints, and 17% of these joints were positive for the HEAD-US criteria. Synovial effusion was found in 22% of the ankle joints, and 50% of these joints were positive for the HEAD-US criteria. By age, abnormal findings were found in 44% of joints in patients aged < 15 years and in 42% of joints in patients aged ≥ 15 years. This study showed that evaluation of joints in patients with hemophilia using ultrasonography is useful. We will continue to perform regular joint ultrasonography examinations to verify the clinical significance of this technique.
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Original Article
Title
An Obesity-improvement Indicator to Normalize Hyperinsulinemia in Obese Children
Author
Katsuhiko Yamada and Miki Inutsuka
Department of Pediatrics, Sasebo Chuo Hospital
Abstract
This study examined indicators for improving obesity and normalizing hyperinsulinemia in obese children aged 6 to 15. Of the 51 children studied, 30 maintained high insulin levels during treatment (non-normalization group), while 21 achieved normalization (normalization group). Gender-specific comparisons were conducted for treatment duration, final obesity rate, final waist circumference, final waist-to-height ratio, and changes in these anthropometric indicators.
In boys, the normalization group showed significantly lower initial insulin levels, initial waist circumference, final obesity rate, final waist circumference, and final waist-to-height ratio compared to the non-normalization group. They also demonstrated significantly larger negative changes in the obesity rate, waist circumference, and waist-to-height ratios. Girls in the normalization group showed significantly lower final obesity rate and a significantly larger negative change in the obesity rate, waist circumference, and waist-to-height ratios.
A logistic regression-based multivariate analysis evaluated the impact of these variables on insulin normalization. Results revealed that in boys, a decrease in obesity rate of 10% or more and a reduction in waist circumference of 3 cm or more significantly influenced insulin normalization. In girls, a decrease in obesity rate of 10% or more had a significant impact on insulin normalization. Furthermore, a decrease in obesity rate of 10% or more was associated with normalization of HOMA-R in both genders and ALT in boys.
The indicator for improving obesity and normalizing hyperinsulinemia in obese children is a reduction in the obesity rate of 10% or more. This numerical goal should be shared with patients.
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Case Report
Title
Ventricular Septal Perforation and Coronary Artery Injuries Caused by Trauma Due to Abuse
Author
Sachi Nagai1) Shiro Baba1) Kenichi Okumura2) Kentaro Akagi1) Eitaro Kume1) Fumiaki Fukumura1) Koichi Matsuda1) Yujiro Ide3) Takuya Hirata1) Tadashi Ikeda3) and Junko Takita1)
1)Department of Pediatrics, Kyoto University Hospital
2)Department of Pediatrics, Uji-Tokushukai Medical Center
3)Department of Cardiovascular Surgery, Kyoto University Hospital
Abstract
Blunt chest trauma can cause cardiac injury. However, it is often misdiagnosed at the first medical examination. A 5-year-old boy was routinely abused by his father after his parents' divorce. Two days before admission, his father struck him hard in the chest. That night, he vomited and visited the emergency room of a hospital. He was diagnosed with gastroenteritis and sent home. However, his symptoms did not improve and his parents brought him to the same hospital two days later. He was suspected of having acute myocarditis because of a heart murmur and tricuspid valve regurgitation on echocardiography. He was then referred to our hospital for further examination. A chest X-ray revealed cardiac enlargement and pulmonary congestion, and an electrocardiogram showed ST-segment elevation in the V2-4 leads. Based on the findings of a ruptured intraventricular septal at apex on echocardiography and multiple sites of subcutaneous hemorrhage including his anterior chest, he was diagnosed with traumatic ventricular septal perforation due to abuse. With damage to the right coronary artery and formation of a ventricular aneurysm, right ventricular function decreased. His heart failure was refractory even after starting oxygen, diuretics, and inotropic drugs. Thus, 16 days after the injury, ventricular septal defect closure and ventricular aneurysm resection were performed. His heart function gradually improved, and he was discharged on day 35 after admission. Traumatic heart injury in children may result from abuse. We must ensure the child's safety in cooperation with relevant agencies regarding social responses.
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Case Report
Title
Posterior Reversible Encephalopathy Syndrome in a Patient with Adrenal Cushing's Syndrome
Author
Hironori Uesugi1) Taku Nakagawa1) Yuichi Takami1) Masaaki Kugo1) Yudai Tsuruno2) Mitsumasa Okamoto2) and Hiroaki Fukuzawa2)
1)Department of Pediatrics, Japanese Red Cross Society Himeji Hospital
2)Department of Pediatric Surgery, Japanese Red Cross Society Himeji Hospital
Abstract
Posterior reversible encephalopathy syndrome (PRES) is a reversible encephalopathy mainly in the occipital lobe caused by hypertension, blood diseases, renal diseases, drug use, and others. The main symptoms are impaired consciousness, seizures, headaches, and visual problems. We report a case of PRES, which was later diagnosed as adrenal Cushing's syndrome and cured surgically. The patient was an 11-year-old boy who was referred to our hospital seven months previously for weight loss evaluation. After receiving nutritional guidance and counseling, his weight loss improved. The night before admission, he had abdominal pain followed by convulsive seizures and was transported to our hospital. At the time of admission, he was conscious and his blood pressure was 153/115 mmHg. He had experienced five seizures of about one minute each within three hours. A CT scan of the head showed a low-attenuation area in the occipital lobe, and a head MRI showed a high-signal area mainly in the occipital cortex, leading to the diagnosis of PRES. His serum cortisol level was elevated. An abdominal ultrasound examination revealed a right adrenal mass. Contrast-enhanced MRI revealed a right adrenal mass 2.5 cm in diameter and atrophy of the left adrenal gland. On day 34 of hospitalization, surgery was performed to resect the right adrenal tumor, and pathological examination confirmed the diagnosis of Cushing's syndrome due to adrenal adenoma. PRES associated with Cushing's syndrome has rarely been reported in children. It is important to elucidate the underlying disease and resolve it promptly.
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