Bart syndrome with associated anomalies

Bart syndrome is an inherited condition characterized by epidermolysis bullosa and congenital absence of skin. It has been associated with other anomalies including pyloric atresia. The genetic abnormality has been linked to chromosome 3, with an autosomal dominant pattern of inheritance. We present a case of Bart syndrome that was associated with pyloric atresia. The literature is reviewed pertaining to this unusual association. Recommendations are offered regarding genetic counseling and anticipatory guidance for affected families.     

Use of propranolol for treatment of hemangiomas in PHACE syndrome

We report the case of a 29-week preterm infant with PHACE (posterior fossa malformations, hemangionas, arterial anomalies, cardiac anomalies, eye anomalies) syndrome. PHACE syndrome is a neurocutaneous disorder with large facial segmental hemangionas associated with anomalies of the brain, eye, heart and aorta. The hemangiomas in our patient were problematic, distorting the airway and interfering with respirations to the point of requiring mechanical ventilation. Consultation with several different centers with medical expertize in treatment of congenital hemangiomas revealed different views on the best management strategy. In this infant, the hemangiomas progressed with failure to involute despite currently recommended therapy including corticosteroids and vincristine. Therefore, the infant was treated with propranolol and had significant regression of the hemangiomas. The use of propranolol for the treatment of infantile hemangiomas is reviewed.     

Autoimmune thyroiditis in children with Turner syndrome.

PURPOSE: To determine the frequency of autoimmune thyroiditis (AIT) and the risk of development of thyroid dysfunction in children with Turner syndrome. METHODS: From 1988 to 1998, 77 children with Turner syndrome were prospectively followed up at National Taiwan University Hospital. The mean (+/- standard deviation) age of these patients was 10.0 +/- 4.7 years at diagnosis of Turner syndrome and 17.4 +/- 5.2 years at the end of the present study. Antithyroglobulin antibody, antimicrosomal antibody, and thyroid function were assessed once every 6 months during the study period. RESULTS: Thyroid autoantibodies were detected in 21 of the 77 (27%) patients. The mean age at the detection of thyroid autoantibodies was 12.2 +/- 5.2 years. The cumulative frequency of AIT at 10 years after diagnosis of Turner syndrome was 36%. Both patients with a ring X chromosome developed AIT. Three of the 21 patients (14%) with AIT developed thyroid dysfunction. One patient developed hypothyroidism at the time of the detection of thyroid autoantibody. Two other patients were noted to have hyperthyroidism 0.5 and 2.5 years, after the detection of thyroid autoantibodies, respectively. CONCLUSIONS: Our data demonstrated a high frequency of AIT in Taiwanese children with Turner syndrome. Some of these patients later developed thyroid dysfunction. Hence, this study has confirmed that regular follow-up assessment of thyroid autoantibody and thyroid function in Taiwanese children with Turner syndrome regardless of their age is necessary for timely diagnosis of thyroid dysfunction and administration of appropriate treatment.     

Renal malformations in children with Turner's syndrome.

Between 1988 and 1999, renal sonography and intravenous urography were performed to detect renal malformations in 54 patients with Turner's syndrome (TS). The mean age of these patients at diagnosis of TS was 9.2 +/- 4.6 years. Renal malformations were detected in 21 patients by intravenous urography and there was no significant difference in the frequency of renal malformations among different karyotype groups. Horseshoe kidney was the most common renal malformation, followed by duplex kidney. Fifteen of 21 renal malformations were not detected by renal sonography. We conclude that these TS patients had a high frequency of renal malformations, and that the detection rate of horseshoe kidney and duplex kidney by renal sonography was not satisfactory. Although renal sonography alone can be used to detect more severe renal malformations that may need further management, it may underestimate the frequency of renal malformation in children with TS.     

An apparently new acrocraniofacial syndrome with cranial nerve and visceral anomalies.

We report details of a neonate with cranial bone dysplasia, broad nasal bridge, microphthalmia, optic and olfactory nerve anomalies, pulmonary segmentation defects, polydactyly, abnormally positioned and shaped thumbs, absent mesentery to the gut and streak gonads. Review of the literature and relevant databases does not identify a likely diagnosis.     

Airway anomalies in the oculoauriculofrontonasal syndrome

Oculoauriculofrontonasal syndrome was the subset of patients with oculo-auriculo-vertebral spectrum and frontonasal malformation. Radiographic evidence of tracheal duplication was documented in a male infant with oculoauriculofrontonasal syndrome. Although previously unreported in oculoauriculofrontonasal syndrome, airway anomalies in our case can be attributed to the oculo-auriculo-vertebral component of the oculoauriculofrontonasal syndrome.     

A new syndrome comprising vertebral anomalies and multicystic kidneys.

We report a dichorionic twin pregnancy in which both fetuses were affected by a similar pattern of multiple abnormalities. The afrocaribbean parents had a history of infertility, and the pregnancy was conceived using in vitro fertilisation with donor sperm. The features seen in the fetuses do not fit any previously described disorder well. We discuss the differential diagnoses and suggest that this may be an autosomal recessive disorder which has not been previously described.     

Siblings with a syndrome of hydrocephalus with patent aqueduct, growth retardation and associated anomalies.

We report on male siblings with hydrocephalus with associated abnormalities including growth retardation, midline cleft palate and bilateral 'fisting' of the hands, providing evidence for a familial syndrome of hydrocephalus and associated anomalies.     

小儿骨髓增生异常综合征94例临床分析

目的探讨小儿骨髓增生异常综合征(MDS)的临床特点。 方法回顾性分析同济医学院附属同济医院1991~2005年间收治的94例小儿MDS的幼稚前体细胞异常定位(ALIP)、血清乳酸脱氢酶(LDH)、血红蛋白F(HbF)、血清铁蛋白(SF)以及细胞遗传学与预后的关系。 结果94例中难治性贫血(RA)48例(511%)，难治性贫血伴原始细胞增多(RAEB)26例(277%)，转化中的难治性贫血伴原始细胞转化增多(RAEB t)20例(213%)。440%的病例(11/25)检出ALIP，随访中5例转为白血病。96%病例(9/94)伴有嗜酸性粒细胞增多，随访中的7例全部死亡，平均存活时间105个月。高危组的SF和LDH明显高于低危组，LDH<300U/L组平均存活时间明显长于LDH≥300U/L组。429%(9/21)病例伴有细胞遗传学改变，556%(5/9)转为白血病。 结论小儿MDS伴有SF和LDH的明显升高以及伴有嗜酸性粒细胞增多者预后不良,染色体核型分析对小儿MDS的诊断、预后评估有重要价值。     

原发性肾病综合征患儿血脂代谢紊乱的肾毒性作用

目的探讨原发性肾病综合征患儿(PNS)血脂代谢紊乱与肾功能改变的关系。 方法2004 01—2006 01，根据肾功能检查结果，将广西医科大学第一附属医院儿科收治的76例PNS患儿分成无肾功能损害组(46例)与肾功能损害组(30例)，检测血浆总胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白(HDL)、非 高密度脂蛋白(non HDL)、低密度脂蛋白(LDL)、载脂蛋白A1(ApoA1)、载脂蛋白B(ApoB)、ApoA1/B、血浆尿素氮(BUN)、肌酐清除率(Ccr)和尿酸(UA)等指标。 结果(1)肾功能损害组TG、BUN、Ccr和UA均明显高于无肾功能损害组；(2)76例PNS患儿TG与Ccr及UA呈高度正相关(P<0.01)，ApoA1与Ccr呈中度正相关(P<0.05)，ApoB与UA呈中度正相关(P<0.05)；(3)76例PNS患儿non HDL与LDL呈高度正相关(P<0.01)。 结论PNS合并肾功能损害的血脂代谢紊乱以TG显著增高为特征；TG和non HDL变化可以作为临床判断PNS患儿肾功能损害程度及调脂措施有效性的指标。     

Complications of nephrotic syndrome in children.

One hundred and ninety-three nephrotic children with a total of 271 admissions during the past decade, from 1980 to 1989, were retrospectively reviewed for acute complications and unusual features of nephrotic syndrome. One hundred and forty-nine patients were male, 44 female. Hypertension was found in 41 children (21.2%). Nine patients (4.7%) had a total of 11 episodes of hypovolemic shock. These shock patients had a more severe hemoconcentration (mean hemoglobin concentration 19.6 +/- 1.5 g/dl) and hyponatremia (mean serum sodium 127.5 +/- 8.5 mmole/L). Bacterial infections occurred in 28 children (14.5%) with primary peritonitis in 13, sepsis in 6, cellulitis in 4, urinary tract infection in 4 and osteomyelitis in 1. Almost all infections were caused by gram-negative bacilli. Other complications or features included tetany in 4 (2.1%), thromboembolism in 2 (1.0%), pancreatitis in one (0.5%) and Fanconi syndrome in one (0.5%).     

Prenatal diagnosis of Cri-du-Chat syndrome with concomitant distal trisomy 10q syndrome in one fetus with ultrasound anomalies

ObjectiveThe aim of this work was to characterize the genetic abnormalities and prenatal diagnosis indications in one fetus with Cri-du-Chat syndrome with codependent 10q24.2-q26.3 duplication in prenatal screening.Materials and methodsA 31-year-old woman had a second trimester serum screening that indicated the fetus was at low risk. During this pregnancy, the woman underwent amniocentesis at 18⁺⁴ weeks' gestation because of adverse fertility history and nuchal fold thickening. Cytogenetic analysis and next-generation sequencing analysis were simultaneously performed to provide genetic analysis of fetal amniotic fluid. According to abnormal results, parental chromosome karyotype of peripheral blood was performed to analysis.ResultsCNV-seq detected a 14.00 Mb deletion at 5p15.33-p15.2 and a 34.06 Mb duplication at 10q24.2-q26.3 in the fetus. Cytogenetic analysis of the fetus revealed a karyotype of 46, XY, der(5) t(5;10) (p15.2;q26.3). The karyotype of pregnant women was 46,XX,t(5;10) (p15.2;q24.2). The pregnancy was subsequently terminated after sufficient informed consent.ConclusionThis is the first study that reports prenatal diagnosis of a Cri-du-Chat syndrome with concomitant 10 q24.2-q26.3 duplication. Adverse pregnancy history has to be as an important indicator for prenatal diagnosis, and the genetic factors of abnormal pregnancy should be identified before next pregnancy. Nuchal fold thickening is closely related to fetal abnormalities. Combined with ultrasonography, the use of CNV-seq will improve the diagnosis of submicroscopic chromosomal aberrations in fetuses with congenital anomalies.     

A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening.

Rett syndrome (RTT) is a severe neurodevelopmental disorder. Apparently normal at birth, girls with RTT undergo developmental regression and acquire a neurological and behavioural phenotype that has been used to define clinical diagnostic criteria for the disorder. Recently mutations in the methyl-CpG binding protein 2 gene (MECP2), located on Xq28 have been identified in females with RTT. We report a girl whose clinical course was complicated by congenital abnormalities of the respiratory tract and gastrointestinal system. In addition neurological abnormalities were evident in the newborn period. By the age of 3 years she had developed a phenotype very suggestive of RTT, but had not demonstrated deceleration of head growth and the development of expressive language was prevented by the presence of the tracheostomy. The clinical impression of RTT was confirmed by the recent finding of a mutation in the MECP2 gene. This case report highlights the importance of considering the clinical diagnosis of RTT even in the presence of other conditions and emphasises that girls with RTT may not be normal from birth.     

Dental anomalies in two patients with incontinentia pigmenti.

Incontinentia pigmenti (IP) is a rare X-linked dominant inherited disorder which has a variety of ectodermal aberrations. Skin hyperpigmentation is the most characteristic feature of IP. However, extracutaneous anomalies involving dentition, hair, eyes, and central nervous system are also found. The dental anomalies reported include peg-shaped or malformed teeth, hypodontia, delayed eruption, and impacted tooth. This report describes the dental anomalies in 2 IP patients who had the characteristic features of skin hyperpigmentation. One was a 13-year-old girl who had slender cone-shaped permanent anterior teeth, hypodontia, and delayed eruption of teeth which are characteristic dental anomalies in an IP patient. The other was a 10-year-old girl who only had 2 tulip-shaped maxillary permanent central incisors with shorter tapering roots but no congenital missing teeth or delayed eruption of teeth. Our findings suggest that IP may present a broad variation of dental anomalies individually. However, the characteristic finding of permanent anterior teeth with a longer crown and a shorter root found in both of our IP patients may be worthy of consideration in the differential diagnosis of IP.     

体位性心动过速综合征109例临床特征分析

探讨儿童体位性心动过速综合征（POTS）的临床特点。方法　2008年5月至2009年10月于北京大学第一医院儿科门诊就诊,经直立试验或直立倾斜试验确诊POTS的患儿109例（POTS组）,平均年龄（11.79±2.55）岁;20名健康儿童为对照组,平均年龄（11.55±3.65）岁。对每例POTS患儿详细询问病史并进行体格检查,对比分析两组儿童在生活习惯、家族史及体质特征方面特点,总结POTS组患儿发病的临床特征。结果　与对照组相比,POTS组患儿在性别比例、年龄、身高、体重、平卧心率、平均动脉压方面差异无统计学意义。POTS患儿主要症状以晕厥多见（52.3%）,42.2％症状发作频繁（就诊时 > 10次）,主要症状发生季节以夏秋季多见（42.1%）, 发作持续时间多在1 min以内（29%）。83.5%患儿发作前有诱因,发作诱因以持久站立为多见（50.5%）,发作前多伴有先兆症状（78.0%）,其中以头晕、黑矇、大汗、面色苍白最为常见。18例（16.5%）患儿有伴随症状,32例（29.4%）发作后仍有不适,以乏力最常见（24例）。90例（82.6%）患儿无既往疾病史,30例（27.6%）有直立不耐受家族史,46例（42.2%）有晕车经历。POTS组清淡饮食者居多（41.3%）,水摄入较少（63.3%）。结论　儿童POTS多发生于学龄期及青春期,晕厥发生率较高,发作季节以夏秋季多见,持久站立、体位改变、精神紧张以及感染为常见诱因。部分患儿有直立不耐受家族史,且易伴有晕车经历。     

激素耐药性肾病综合征肾小管上皮细胞-间充质转化临床意义研究

探讨肾小管上皮细胞-间充质转化（EMT）与肾脏病理进展及原发性肾病综合征（INS）糖皮质激素（GC）耐药的关系。方法　2005年9月至2007年12月在中南大学湘雅二医院儿科住院行肾穿刺活检的INS患儿40例,分为激素耐药性肾病综合征（SRNS）组（20例）和激素敏感性肾病综合征（SSNS）组（20例）。免疫组化双染法检测INS患儿和5例正常对照组儿童肾组织中细胞角蛋白（CK）和波形蛋白（vimentin）的表达,肾脏病理评分半定量评价肾组织病理损害程度。结果　SRNS组肾小管-间质病理评分显著高于SSNS组（P < 0.05）;正常对照组肾小管上皮细胞内只表达CK,不表达vimentin;INS肾小管上皮细胞均不同程度表达vimentin;SRNS组肾组织CK表达较SSNS组显著降低[分别为（66.25±12.13）%和（76.64±7.64）%,P < 0.05],vimentin表达较SSNS组显著增高[分别为（11.51±7.48）%和（4.98±2.27）%,P < 0.05];不同肾小管-间质病变（轻、中、重度）组肾小管上皮细胞内CK和vimentin表达量的差异均有统计学意义[CK表达量分别为（79.97±3.70）%、（65.47±7.93）%和（48.47±5.98）%,P < 0.05];vimentin表达量分别为（4.74±1.84）%、（9.65±5.10）%、（23.60±7.72）%,P < 0.05];肾小管-间质病理评分与肾小管上皮细胞CK表达呈负相关（r = -0.887,P < 0.01）,与vimentin的表达呈正相关（r = 0.868,P < 0.01）。结论 　肾病综合征肾组织的肾小管上皮细胞存在不同程度的肾小管上皮细胞-间充质细胞转化（EMT）现象,尤以SRNS为甚;检测肾组织EMT水平可能有助于判断INS的预后。