Unusual Cause of Pediatric Vaginal Bleeding: Infantile Capillary Hemangioma of the Cervix

Background

The differential diagnosis for pediatric prepubertal vaginal bleeding is wide. Rare etiologies include vascular malformations and tumors, such as infantile hemangiomas (IHs), which validate the usefulness of exam under anesthesia, vaginoscopy, and tissue diagnosis.

促肾上腺皮质激素治疗婴儿痉挛55例临床研究

目的 总结首次应用促肾上腺皮质激素(ACTH)治疗婴儿痉挛的临床疗效、不良反应、用药前后的脑电图变化,为ACTH的普及应用提供临床借鉴.方法 对我中心既往3年间收治的首次应用ACTH治疗的婴儿痉挛患儿的临床资料进行回顾性分析.结果 (1)控制痉挛发作显效率为54.7%,好转率为15.1%,无效率为30.2%,且疗效与发病年龄、病程及病因有关;(2)不良反应有睡眠周期改变(85.5%)、皮肤颜色变深(81.8%)、心律不齐(65.5%)、血压升高(38.2%)、低钾血症(21.8%)、感染(20.0%)等;(3)用药前脑电图多以高峰节律紊乱为主要背景,用药两周后脑电图高峰节律消失41例(74.5%),好转14例(25.5%).结论 首次应用ACTH治疗婴儿痉挛疗效肯定,尤其可明显改善患儿高峰节律紊乱脑电背景,用药期间也存在一定的不良反应,应密切观察.     

婴幼儿期肾病综合征临床特点分析

目的　探讨婴幼儿期原发性肾病综合征 (简称婴幼儿肾病 )的临床特点 ;分析婴幼儿肾病临床特点、免疫功能、病理分型和糖皮质激素 (简称激素 )疗效的关系。方法　对 31例婴幼儿肾病患儿进行临床观察 ;进行体液免疫和细胞免疫功能测定 ;14例接受肾穿刺活检 ;31例均采用激素中长程疗法 ,18例予以免疫抑制剂如环磷酰胺 (CTX)等联合治疗。结果　婴幼儿肾病临床以肾炎型肾病为主 ;体液免疫和细胞免疫功能下降 ;病理以非微小病变型为主 ;约 6 0 %患儿对激素治疗不敏感 ,需用激素与免疫抑制剂联合治疗。结论　婴幼儿肾病具有与其它儿童肾病综合征不同的特点 ,应当引起临床重视。     

Infantile fibrosarcoma associated with urticaria pigmentosa

The authors report the case of an infant with urticaria pigmentosa who developed infantile fibrosarcoma. The tumor was successfully resected but the skin lesions have persisted. This is the first report of a fibrosarcoma in association with urticaria pigmentosa. A brief review is presented of the available medical literature on associations of solid tumors with mastocytosis.     

Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation

Congenital disorders of glycosylation (CDG) are metabolic disorders that affect the glycosylation of proteins and lipids. Since glycosylation affects all organs, CDG show a wide spectrum of phenotypes. We present a patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a type 1 serum transferrin isoelectrofocusing due to a novel CDG caused by a homozygous variant in the oligosaccharyltransferase complex noncatalytic subunit (OSTC) gene involved in glycosylation and confirmed by serum transferrin electrophoresis.     

一例酪氨酸羟化酶缺乏症导致的小儿帕金森症伴运动延迟的临床及基因变异分析

目的探讨1例酪氨酸羟化酶缺乏症导致的小儿型帕金森伴运动延迟患儿家系的临床特点,并分析其基因变异情况。方法收集2018年6月就诊郑州大学附属儿童医院的1例酪氨酸羟化酶缺乏症患儿的临床特点,提取患儿及其家系成员外周血DNA,对患儿多巴反应性肌张力不良相关基因三磷酸鸟苷环水解酶1基因(guanosine triphosphate cyclohydrolaseⅠ,GCH1)、酪氨酸羟化酶基因(tyrosine hydroxylase,TH)、墨蝶蛉还原酶基因(sepiapterin reductase,SPR)全部外显子进行深度测序,对变异位点进行分析并通过Sanger测序验证。结果该患儿7月11天,因"翻身不灵活、不会独坐"就诊。运动功能减退,动作延迟,肌张力稍低,肢体僵硬,头有抖动,轻微斜颈,智力发育稍微落后,自3个月大开始有肢体不自主抖动,持续约十几秒自行缓解,情绪激动时和睡前该动作较多。头颅MRI提示双侧额颞部蛛网膜下腔增宽,颞部增宽明显,被误诊为脑性瘫痪。基因变异分析发现其TH基因c.457C>T(p.R153X)无义变异和c.720C>G(p.I240M)错义变异,分别来源于其父亲和母亲,属于复合杂合变异,符合常染色体隐性遗传,其中c.457C>T(p.R153X)为国内外已报道致病变异,c.720C>G(p.I240M)未见报道。结论报告一例1岁以内发病的因酪氨酸羟化酶缺乏症引起的婴儿型帕金森伴运动迟,TH基因变异是导致酪氨酸羟化酶缺乏症的主要原因之一,本研究结果发现的c.720C>G(p.I240M)变异进一步丰富了TH基因的变异谱。     

Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX

We report on a patient with agenesis of the corpus callosum (ACC), severe mental retardation, infantile spasms and subsequent intractable epilepsy, spastic/dyskinetic quadriparesis, severe limb contractures, and scoliosis. This complex, newly described phenotype, is due to a novel non-conservative missense mutation in the ARX homeodomain (c.1072A>T; p.R358W), inherited from the unaffected mother. Differently from previously reported non-conservative mutations falling within the same domain, p.R358W did not cause XLAG. It is therefore possible that differences in clinical manifestations between our patient and those with XLAG, are related to the different position of the amino acid substitution in the homeodomain, or to the different chemical properties introduced by the substitution itself. To test the hypothesis that the patient's mother was asymptomatic because of non-random X chromosome inactivation (XCI), we performed DNA methylation studies of the human androgen receptor gene, demonstrating skewing of the XCI ratio (85:15). The complex phenotype described here combines different traits that had previously been linked to various ARX mutations, including conservative missense mutations in the homeodomain and expansion in the first ARX polyalanine tract and contributes to the expanding pleiotropy associated with ARX mutations.     

Alexander disease with mild dorsal brainstem atrophy and infantile spasms

We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8 months of age. The patient had a cluster of partial seizures at 4 months of age. He presented with mild general hypotonia and developmental delay. Macrocephaly was not observed. Brain magnetic resonance imaging (MRI) findings fulfilled all MRI-based criteria for the diagnosis of Alexander disease and revealed mild atrophy of the dorsal pons and medulla oblongata with abnormal intensities. DNA analysis disclosed a novel heterozygous missense mutation (c.1154 C>T, p.S385F) in the glial fibrillary acidic protein gene. At 8 months of age, tonic spasms occurred, and electroencephalography (EEG) revealed hypsarrhythmia. Lamotrigine effectively controlled the infantile spasms and improved the abnormal EEG findings. Although most patients with infantile Alexander disease have epilepsy, infantile spasms are rare. This comorbid condition may be associated with the distribution of the brain lesions and the age at onset of Alexander disease.