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en: Usefulness of individual support and medication for autism spectrum disorder traits in a boy with cyclic vomiting syndrome

ja: 自閉スペクトラム症の特性に応じた個別支援と薬物治療が有用であった周期性嘔吐症の男児例

en: Herein we report the case of a 7-year-old boy with cyclic vomiting syndrome (CVS) successfully treated with judicious management and medication of autism spectrum disorder (ASD) traits. Radical surgery for esophageal atresia (Gross C) was performed during the neonatal period. The patient's mother and grandmother both had migraines. The cyclic vomiting began when he was 1 year and 4 months of age, and the episodes occurred 1-3 times monthly. Various drug treatments were tested, but were not effective in controlling the vomiting events. The patient was referred to our hospital at the age of 7 years and 4 months for consultation and treatment. We arrived at a diagnosis of ASD due to observable traits including avoidance of eye contact, obsessiveness, and difficulty in communication. Subsequently, we began individual support and medication for ASD traits to alleviate the CVS. The school has begun to support for his behaviors associated with ASD. Consequently, the psychological anxiety regarding school attendance was addressed, allowing the patient to return to school. When prophylactic drug treatment was changed to the combination of risperidone, amitriptin, and sodium valproate, the vomiting attacks discontinued. The patient is now aged 9 years and 3 months, and has experienced no recurrent vomiting episodes in the past 14 months. In conclusion, it is important to consider the possible coexistence of developmental disorders in patients with intractable CVS, and to provide the reasonable accommodation and treatment for optimal outcomes.

ja: 自閉スペクトラム症 (ASD) の特性に応じた個別支援および投薬が発作消失に有用であった周期性嘔吐症の7歳男児例を経験したので報告する. 新生児期に食道閉鎖症 (Gross C) に対する根治術の既往歴あり. 母親と祖母に片頭痛の家族歴あり. 周期性嘔吐症は1歳4か月時に発症し, 以後月に1~3回の嘔吐発作が持続した. 様々な薬物治療が試みられたが, 嘔吐発作の抑制には効果がなかった. 精査加療目的で, 7歳4か月時に当科に紹介された. その際, 視線の合いにくさ, 強迫観念, コミュニケーションの困難さなどの特性があり, ASDの診断に至った. そこで, ASD特性への配慮と薬物治療を行うことで周期性嘔吐症の改善を目指した. 学校でも特性に応じた配慮が受けられるようになり, 通学に対する不安が解消され, 登校できるようになった. 予防薬は, risperidone, amitriptin, sodium valproateの3剤の組み合わせに変更した時点で, 嘔吐発作は消失した. 現在9歳3か月となったが, ここ14か月の間に嘔吐発作の再発は認めていない. 難治性の周期性嘔吐症患者においては, 発達障害の有無の精査とそれに対する支援が重要であると考えた.

en: No to Hattatsu

ja: 脳と発達


en: The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection.

en: Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by heterozygous mutations. To date, 13 patients affected by mutation-caused MDPL have been described. We report a clinically undiagnosed 11-year-old male who noted joint contractures at 6 years of age. Targeted exome sequencing identified a known mutation [NM_002691.3:c.1812_1814del, p.(Ser605del)] that diagnosed him as the first Japanese/East Asian MDPL case.

en: Human Genome Variation

ja: Human Genome Variation


en: Congenital craniopharyngioma treated by radical surgery: case report and review of the literature

en: Craniopharyngiomas are 5-10 % of all pediatric tumors, but are seldomly encountered in the perinatal period. Only seven instances of a truly antenatal diagnosis of a congenital craniopharyngioma that subsequently underwent radical surgery have been reported. We present the case of a patient who received the diagnosis of a suprasellar tumor during the prenatal period and received radical surgery. We report a case of a neonatal craniopharyngioma treated surgically. The pregnancy progressed uneventfully until a routine ultrasound at 37 weeks of gestation showed a 15 × 15 mm high echoic mass in the center of the fetal head. Neonatal Gd-enhanced T1-weighted MRI at 5 days of life showed a homogenously enhanced mass (16×22×15 mm) in the sellar and suprasellar lesion. As the tumor showed rapid growth at the 3rd month of life, the patient underwent a surgical treatment and the mass was totally removed. Three years later, the physical and mental development of the patient was normal, and Gd-MRI studies showed no tumor recurrence. The present case is the eighth case of a truly antenatal diagnosis of a craniopharyngioma that underwent successful radical surgery. Craniopharyngioma is a benign tumor and thought to be a slow growing tumor in childhood. The results of radical surgery were very poor, and the mortality and morbidity rates were high in the previous reports due to the huge size of tumor at operation. The present case demonstrated the rapid growth in short interval of Gd-MRI. This is the first report of tumor kinetics of congenital craniopharyngioma with previous reports. The calculated tumor doubling time in our case was 37 days.

en: Child's Nervous System

ja: Child's Nervous System


en: A case of methylmalonic academia with acrodermatitis enteropathica-like eruption due to essential amino acids deficiency

ja: 症例報告 必須アミノ酸欠乏によると考えられる腸性肢端皮膚炎様皮疹を生じたメチルマロン酸血症の1例

en: Japanese Journal of Clinical Dermatology

ja: 臨床皮膚科


en: Evaluation of the Sugar Content in the Side Dishes Served in Elementary School Lunches

ja: 小学校給食の副食に含まれる糖質量の検討

en: Kuroda et al. proposed a simple method for calculating the carbohydrate content based on a food exchange list (Shokuhin Koukanhyou), with a sugar content of dietary staples of 40 % for rice, 50 % for bread, and 20 % for boiled noodles and a side dish containing 20 g sugar. This study focused on the sugar content in in school lunches, which have a nutrient composition that is different from diabetic meals. The total energy content of school lunches and the sugar content in their side dishes were investigated in 42 school lunches served in elementary school. The average energy intake in the total lunch increased depending on the school grade (670±44 to 752±50 kcal; means±standard deviation). On the other hand, the sugar content of side dishes increased from 29.7±7.5 g in the 1st-2nd grade to 31.2±8.1 g in the 5th-6th grade, thus it could be estimated to be 30 g regardless of the energy intake. Two hundred milliliters of milk containing approximately 10 g of carbohydrate was served in every school lunch, which accounted for the 10 g increase in comparison to hospital lunches. These results indicate that the sugar content in the side dishes of elementary school lunches can be estimated to be 30 g regardless of the energy intake.

ja: 「食品交換表に基づく新たなカーボカウント法」(黒田ら，糖尿病2010)に基づいて糖尿病食1食に含まれる糖質量を算出する場合，1食を主食と副食にわけ，副食は一律20 gと概算する．しかし，小児期は必要エネルギー量や栄養素バランスが食品交換表とは異なる．よって本研究では，小児期の副食糖質量を検討することを目的とした．学校給食摂取基準に基づく学校給食42食分を小学校の学年別に検討した．その結果，1食のエネルギーは670±44∼752±50(平均値±標準偏差)kcalと学年が上がるに従い増加したが，副食糖質量は29.7±7.5∼31.2±8.1 gであり，エネルギー量にかかわらず副食糖質量を約30 gに概算できた．学校給食では糖質約10 gの牛乳が毎食提供されるため糖尿病食や病院普通食に比較して副食糖質量が10 g増加すると考えられた．以上より，小学校給食では副食糖質量を30 gとしてカーボカウントを指導できることが明らかとなった．<br>

en: Journal of the The Japan Diabetes Society

ja: 糖尿病


en: Increased urinary angiotensinogen is precedent to increased urinary albumin in patients with type 1 diabetes.

en: Thus, in patients, an increase in urinary angiotensinogen levels is observed, and this increase is precedent to an increase in urinary albumin levels, suggesting that urinary angiotensinogen may function as an early marker of diabetic nephropathy.

en: The American Journal of the Medical Sciences


en: Ghrelin concentration in cord and neonatal blood -Relation to fetal growth and energy balance-

en: To investigate the relationship between ghrelin and both fetal and neonatal growth parameters and energy balance, we measured plasma ghrelin concentrations in 54 cord blood samples (male, n = 34; female, n = 20; gestational age, 37.0-41.6 wk; birth weight, 2206-4326 g) and 47 neonatal blood samples (male, n = 27; female, n = 20; postnatal d 3-8). The plasma ghrelin concentrations in cord blood ranged from 110.6-446.1 pmol/liter (median, 206.7 pmol/liter), which were equal to or higher than those in normal weight adults. These values were inversely correlated with birth weight (r = -0.40; P = 0.002), birth length (r = -0.36; P = 0.007), placental weight (r = -0.35; P = 0.01), and IGF-I concentration (r = -0.49; P = 0.0002), but were not significantly correlated with the GH concentration (r = 0.22; P = 0.12). The ghrelin concentrations in small for gestational age newborn were significantly higher than those in appropriate for gestational age newborns (P = 0.0008). The ghrelin concentrations in the vein were significantly higher than those in the artery in 8 cord blood samples (P = 0.01), which suggests that the placenta is an important source of fetal ghrelin. In neonates, the ghrelin concentrations ranged from 133.0-481.7 pmol/liter (median, 268.3 pmol/liter), which were significantly higher than those in cord blood (P < 0.0001). These results suggest that ghrelin may contribute to fetal and neonatal growth.

en: The Journal of Clinical Endocrinology and Metabolism


en: Detection of glucokinase gene defects in non-obese Japanese children diagnosed with diabetes by school medical examinations.

en: We examined children who were diagnosed with asymptomatic type 2 diabetes by school medical examinations to investigate the existence of glucokinase (GCK) gene defects in this group. Among 20 children diagnosed with asymptomatic type 2 diabetes by school medical examinations between 2003 and 2009 at our 2 hospitals, 8 were classified as non-obese type. Among them, we screened 5 children (2 boys and 3 girls; age: 8-13 years) who had mild elevation of fasting plasma glucose (108-134 mg/dL) with slightly high internationally standardized HbA1c levels (6.3-6.9%) at first close examination. Written informed consent was obtained and all families agreed to participate in this study. We found 4 different mutations (G223S, G81C, S336X and T228M) in 4 of the examined children. The blood glucose control levels had not become worse in any children during the 2-6 years follow-up period. The inheritance of diabetes with GCK gene defect was later confirmed in 1 family. These results suggest that GCK gene defects exist in non-obese children who are diagnosed with asymptomatic diabetes by school medical examinations. Cases of diabetes that are caused by GCK mutations may not be as rare in Japanese subjects as previously described and could be found in patients tentatively diagnosed as type 2 diabetes.

en: Endocrine Journal

ja: Endocrine Journal