Acquired progressive hypotonia in infancy: consider compressive cervical myelopathy

This case report presents a rare cause of progressive hypotonia due to a congenital bony defect of the atlas in a 2-month-old girl. The patient was initially referred to the paediatric department with feeding problems. Within days after admission she developed progressive hypotonia and showed decreased reflexes of the upper extremities. Magnetic resonance imaging showed compressive myelopathy at the level of vertebra C1. After laminectomy of the C1-vertebra the neurological symptoms resolved. CONCLUSION: Most anomalies of the vertebras are asymptomatic. Only symptomatic anomalies with compression and neurological symptoms need surgery.     

Glucagon — Its application to childhood gastrointestinal radiology

Glucagon, a naturally occurring pancreatic polypeptide, can be used safely and effectively in the pediatric population in relaxing the smooth muscle for detailed visualization of specific areas of the gastrointestinal tract. Glucagon has diverse diagnostic and therapeutic radiologic applications in children.     

地氟醚对小儿罗库溴铵肌松作用的影响

目的研究地氟醚对小儿罗库溴铵量效关系、肌松时效及输注速率的影响。方法将80例小儿随机分为2组,异丙酚组(P组),予静脉输入异丙酚6～8mg/kg-1/min-1;地氟醚组(D组),持续吸入6%地氟醚。用TOF-Guard加速度肌松监测仪(Organon)监测神经肌肉功能。分3期进行观察。第1部分每组20例,用异丙酚/地氟醚麻醉维持60min后,用2次给药技术建立量效关系曲线,计算ED50、ED90和ED95;第二部分每组10例,用异丙酚/地氟醚麻醉维持60min后静脉注射罗库溴铵600μg/kg,记录起效时间、作用时间和恢复时间;第3部分每组10例,诱导后静脉注射罗库溴铵600μg/kg,待T1恢复至5%时吸入地氟醚(D组)或输注异丙酚(P组),同时静脉输注罗库溴铵维持T1于5%左右,每15min记录1次罗库溴铵输注速率,共4次。结果P组ED50、ED90、ED95分别为188.7μg/kg、316.3μg/kg、366.2μg/kg,D组ED50、ED90、ED95分别为157.4μg/kg、263.9μg/kg、305.5μg/kg,D组均小于P组,P<0.05;P组与D组的起效时间分别为83s±5s、70s±6s,临床肌松时间分别为25min±4min、31min±3min,恢复指数分别为10.0min±1.8min、12.8min±2.4min,两组比较,差异有显著统计学意义(P<0.01);用异丙酚/地氟醚麻醉维持30min、45min、60min,D组罗库溴铵输注速率均小于P组(P<0.01,P<0.05)。结论地氟醚能显著增强罗库溴铵的肌松作用,加快其起效时间,作用时间延长,减小输注速率。     

Infantile isolated sulphite oxidase deficiency: Report of a case with negative sulphite test and normal sulphate excretion

We present the clinical and biochemical data of a patient with infantile isolated sulphite oxidase deficiency with late onset of symptoms. A comparison of the biochemical parameters is made with the neonatal type of this disease and with the data of described patients with the combined defect of sulphite oxidase and xanthine oxidase, due to molybdenum cofactor deficiency. False-negative sulphite dip stick test as a pitfall in the diagnosis of sulphite oxidase deficiency is discussed.     

Glucagon-induced small intestinal hypotonia demonstrating bleeding lymphoma

While a patient was being evaluated for melena, a glucagon-induced hypotonic examination of the small intestine demonstrated a small ulcerated mass in the jejunum. The tubeless hypotonic examination was performed after multiple gastrointestinal series, small intestinal series, barium enemas, and visceral arteriography—including celiac and superior mesenteric arteriograms—failed to identify a bleeding site. Surgical exploration revealed three ulcerated lymphomatous lesions in the jejunum. The lack of side effects, rapidity of onset, and shortness of duration of intravenous glucagon suggest that this type of hypotonic examination of the small intestine may prove useful as an adjunct to the small intestinal series.     

Chung–Jansen Syndrome with obesity

Chung–Jansen Syndrome is a recently identified obesity syndrome, characteristic clinical features of which are global developmental delay, intellectual disability, obesity and dysmorphism (DIDOD). We present a child with the syndrome who also had hypothyroidism and renal involvement in form of small kidneys on one side. The next generation sequencing done in the child showed a nonsense variant in the PHIP gene leading to premature chain termination in the protein on bioinformatic analysis.     

前庭训练结合常规康复对全面发育迟缓伴肌张力低下患儿整体发育水平影响的随机对照试验

背景目前,全面发育迟缓伴肌张力低下患儿的增多已引起人们的关注,但在临床上对于此类患儿的康复治疗,方法较为单一且起效较慢。目的观察前庭训练结合常规康复治疗对全面发育迟缓伴肌张力低下患儿肌张力和整体发育水平的影响,旨在优化其康复治疗方案。方法选取2018年4月至2020年1月于黑龙江中医药大学附属第二医院康复中心儿童康复部接受康复训练的全面发育迟缓伴肌张力低下患儿60例为研究对象,采用随机数字表法将其分为对照组（30例）和观察组（30例）。对照组患儿采用常规康复治疗,观察组患儿采用前庭训练结合常规康复治疗。两组均每天进行1次治疗,每周连续治疗6 d,连续治疗4周。观察并比较两组患儿治疗前、后格里菲斯儿童神经发育量表（GMDS）各领域百分比和发育商,以及肌张力评分;比较两组患儿治疗后肌张力改善的总有效率。结果干预前两组GMDS各领域百分比和发育商比较,差异无统计学意义（P>0.05）;干预后观察组GMDS各领域百分比和发育商均高于对照组,差异有统计学意义（P<0.05）。干预前两组肌张力评分比较,差异无统计学意义（P>0.05）;干预后观察组肌张力评分高于对照组（P<0.05）,差异有统计学意义。在肌张力改善情况上,对照组显效9例（30.0%）、有效8例（26.7%）、无效13例（43.3%）,临床总有效率为56.7%（17/30）;观察组显效17例（56.7%）、有效9例（30.0%）、无效4例（13.3%）,临床总有效率为86.7%（26/30）。观察组临床总有效率高于对照组,差异有统计学意义（χ2=13.658,P<0.001）。结论前庭训练结合常规康复治疗的实施能够提高全面发育迟缓伴肌张力低下患儿的肌张力水平,并明显改善其发育迟缓状况,且其疗效优于单一常规康复治疗。     

梗阻性黄疸的低张螺旋CT增强扫描研究

目的：探讨低张增强扫描技术在梗阻性黄疸诊断中的临床应用价值。材料与方法：选取梗阻性黄疸患者43例行低张增强扫描，以肝内外胆管扩张的范围，形态及病理手术结果作为分组依据，进行统计学处理；另外随意选取32例患者行普通增强扫描，比较两种扫描在诊断上的符合率。结果：1、肝外胆管远段梗阻（P＜0．05）、梗阻部呈漏斗样改变（P＜0．01），肝内胆管呈竹节样扩张对良性病变诊断有重要意义；肝外胆管中、近段梗阻（P＜0．05），梗阻部胆管呈截断型或突然狭窄型（P＜0．01），肝内胆管呈软藤状扩张（P＜0．01）高度提示恶性病变。2、低张增强扫描技术在诊断上的符合率高于普通增强扫描，尤其在恶性诊断符合率是（P＜0．05）。结论：低张增强扫描技术可明显提高梗阻性黄疸的定位、定性诊断的准确率，可在临床上进一步推广。     

Variant in the neuronal vesicular SNARE VAMP2 (synaptobrevin-2): First report in Japan

BackgroundA report presenting five heterozygous de novo variants in VAMP2 in unrelated individuals with a neurodevelopmental disorder characterized by axial hypotonia, intellectual disability, and autistic features was first published in April 4, 2019.Case reportWe report the case of a male child with VAMP2 variant who was delivered at 38 weeks and 4 days without neonatal asphyxia. At 4 months of age he showed hypotonia and no visual pursuit and fixation. He presented with infantile spasms at 6 months, and electroencephalography (EEG) showed hypsarrhythmia. His infantile spasms completely disappeared by adrenocorticotropic hormone therapy, but his EEG findings continued to show high voltage slow-waves with multi-focal spikes.At 2 years of age he was non-verbal, had an absence of purposeful hand movements, and no visual fixation. He had somnolence tendency in the daytime. Biochemical and extensive genetic examinations were unrevealed. Magnetic resonance imaging showed slight brain atrophy. At 2 years and 7 months of age, he suffered from myoclonic seizures of the eyelid and tongue, which propagated to unilateral fingers, and sometimes to the bilateral legs. At 8 years of age hyperkinetic movement occurred.At age 13, whole-exome sequence identified a heterozygous missense variant, NM_014232.2:c.199G>C,[p.(Ala67Pro)] in exon 3 of VAMP2 which was a de novo non-synonymous variant.ConclusionThis is the first case report of VAMP2 variant in Japan. Hypotonia at early infancy, poor visual fixation, and absence of purposeful hand movements may be indicative of the diagnosis for VAMP2 variant.     

DNM1基因变异致早发性婴儿癫痫性脑病31型三例并文献复习

目的探讨DNM1基因变异导致早发性婴儿癫痫性脑病的临床、基因和预后特征。方法三例经基因检测证实为DNM1基因新发变异的患儿,回顾性分析其临床和基因表型以及预后,并在国内外数据库以“Dynamin-1”或“DNM1”检索相应文献,利用单因素方差方法分析临床和癫痫发作表型、抗癫痫药物疗效与基因变异位点结构域相关性。结果女1例,男2例;癫痫发病年龄2~17月龄,癫痫发作表型:2例为癫痫性痉挛发作,1例为局灶性一侧肢体阵挛或继发强直阵挛发作。基因检测结果显示3例患儿DNM1基因存在新发错义变异,2例为NM_004408.4:c.415 G>A(P.Gly 139Arg),1例为NM_004408.4:c.545 C>A(P.Ala 182Asp),随访至2~3岁时,均为肌张力低下、严重智力障碍、无行走能力和主动语言、耐药性癫痫、不能自主进食和不会咀嚼固体食物。经文献检索,至今国内外报道DNM1基因相关脑病36例,包括本组病例共计39例,肌张力低下与基因变异位点区域无关,GTPase酶结构域和中间区域变异存在严重或显著智力发育障碍。对31例诊断癫痫并且临床资料完整患儿进一步分析发现,癫痫性痉挛发作是常见的癫痫发作形式,变异位点位于GTPase酶结构域和中间区域的两组病例,失神发作在GTPase酶结构域更常见(P=0.02),而在性别、起病年龄、其他癫痫发作形式和药物治疗反应上均无统计学差异。结论肌张力低下、严重智力和运动障碍及早发型癫痫是DNM1相关脑病的主要表现,癫痫性痉挛发作是最常见的发作形式,除失神发作外,GTPase酶结构域和中间区域变异的临床和癫痫表型无明显区别,本组病例尚合并进食障碍。