Trichothiodystrophy with severe cardiac and neurological involvement in two sisters

Trichothiodystrophy or sulphur-deficient brittle hair is a clinical marker for several autosomal recessive neurocutaneous syndromes. The typical hair abnormality is frequently associated with many alterations affecting the skin, nervous system, eyes and bones as well as the immune, gonadal and endocrine systems. We report the first cases of dilated cardiomyopathy in two sisters with trichothiodystrophy, leading to cerebral infarction in the younger one. In addition, both suffer from severe hearing impairment, osteosclerosis, and psychomotor retardation with central hypomyelination. CONCLUSION: Severe cardiac involvement and stroke may be associated features of trichothiodystrophy.     

肾脏受累的 Cockayne 综合征临床特点、治疗及随访观察

目的探讨Cockayne综合征肾脏受累的临床特征及其治疗和随访。方法回顾分析1例经基因检测确诊的Cockayne综合征伴肾脏损伤患儿的临床资料,并复习文献,总结Cockayne综合征肾脏受累的临床特征。结果患儿男性,3岁8个月,主要临床表现为精神运动发育迟滞、生长发育障碍、特殊面容、光敏性皮炎,肾脏受累表现为肾病综合征;头颅CT显示双侧基底节对称性钙化。靶向二代测序结果显示,患儿ERCC8基因(NM_000082)c.394_398 del,p.Leu 132 Asnfs Ter 6,纯合突变,患儿父母均检测到相同杂合突变(父母非近亲婚配)。诊断肾病综合征后,给予足量泼尼松试验性治疗,患儿尿蛋白减少但未转阴,符合激素耐药,联合环孢素治疗4个月后尿蛋白转阴,随访20个月,尿蛋白持续阴性,肾功能维持稳定。Cockayne综合征肾病受累的文献报道少,临床表现异质性大。结论需注意Cockayne综合征患儿表现为肾病综合征等的肾脏受累。     

儿童神经副肿瘤综合征临床特点

目的探讨神经系统副肿瘤综合征(PNS)的临床特点。方法回顾分析3例PNS患儿的临床表现、脑脊液检查、生化指标、脑电图、头颅MRI及腹部影像学检查资料。结果 3例患儿中男性2例、女性1例,发病年龄2～6岁。均出现神经系统症状,乳酸脱氢酶高,脑电图慢波增多,腹部影像学提示腹腔肿瘤;1例脑脊液白细胞增高、寡克隆蛋白阳性;2例头颅MRI出现相应改变。结论 PNS起病隐匿,行脑脊液、乳酸脱氢酶、头颅MRI、腹部影像学等检查有助于早期诊治。     

Blue rubber bleb nevus syndrome with simultaneous neurological and skeletal involvement

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by venous malformations usually affecting the skin and the gastrointestinal tract. These skin haemangiomas are present at birth and deteriorate as the body grows, causing primarily cosmetic problems. The haemangiomas of the gastrointestinal tract may appear later in life and may bleed, causing chronic anaemia, or may present with severe complications such as rupture, intestinal torsion, and intussusception. Other organs may also be involved. This article describes a 13-year-old boy with multiple haemangiomas of the skin, the mucous membranes, and the gastrointestinal tract, which caused anaemia and ileoileic intussusception. In this patient, the nervous system was significantly affected with a haemangioma of the left occipital lobe, with complications of stroke. He also had multiple paravertebral heamangiomas, which caused pressure signs and symptoms. This boy suffered from complex partial and generalized seizures and cerebral palsy. Multiple skeletal anomalies were also present from birth. In the relevant literature, this is the first case of BRBNS with simultaneous neurological and skeletal involvement. Such cases should be recognized early, as they can lead to serious multiple health problems and handicaps.     

Xeroderma pigmentosum in four siblings with three different types of malignancies simultaneously in one

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease characterized by marked sensitivity to ultraviolet radiation that leads to the development of multiple skin malignancies. The authors describe four XP siblings in a consanguineous Pakistani family. The first patient was a boy who died at age 2 years. The second and third siblings were girls who died at age 2 and 7 years, respectively. The fourth sibling, the propositus, was a boy diagnosed with XP at age 7 years. He developed three different types of malignancies simultaneously and died at age 13. The authors conclude that it is important to be aware of multiple malignancies of different types in the same patient with XP.     

Early neurological impairment and severe anemia in a newborn with Pearson syndrome

Background  Pearson marrow-pancreas syndrome (PS) is usually a fatal mitochondrial disease, mostly diagnosed during infancy or postmortem. PS is caused by the deletions or duplications of mitochondrial DNA (mtDNA). The tissue distribution and relative proportions of expressed abnormal mtDNA determine the phenotype and the clinical course. Materials and methods  We describe the case of a term baby boy who was diagnosed with PS early in the neonatal period due to severe aregenerative anemia and persistent lactic acidosis. Results  His neurological examination was abnormal since birth. Brain magnetic resonance imaging (MRI) at term was abnormal, indicating that mitochondrial encephalopathy in PS can be already manifested in the neonatal period. To our knowledge, neonatal encephalopathy in PS has not been previously described. Conclusion  PS is a rare condition diagnosed in the newborn. It should be suspected in the presence of severe anemia and persistent lactic acidosis, and may manifest with early encephalopathy.     

Brown-Vialetto-van Laere syndrome: A riboflavin responsive neuronopathy of infancy with singular features

We report the case of a previously healthy child presenting at 6 months of age with mild feeding difficulties and then developing hypotonia, progressive bulbar palsy with respiratory compromise and lower motor neuron signs, causing her to spend 4 months in the Paediatric Intensive Care Unit.Neurophysiological studies demonstrated a motor neuronopathy involving anterior horn cells and cranial nerve nuclei and abnormal brainstem auditory evoked potentials, leading to a diagnosis of Brown-Vialetto-van Laere Syndrome, confirmed by genetic testing (SLC52A3). Magnetic Resonance Imaging showed signal changes in the dorsal column of the spinal cord. She developed a coarse face and abnormal hair pattern.Sustained clinical improvement has been observed during almost 4 years of high-dose riboflavin therapy.     

重度胎粪吸入综合征并发急性呼吸窘迫综合征临床特征及转归分析

目的 探讨新生儿重度胎粪吸入综合征(meconium aspiration syndrome,MAS)并发急性呼吸窘迫综合征(acute respiratory distress syndrome,ARDS)的临床特征及转归,为临床诊治提供参考.方法 回顾性收集2017年1月至2019年12月收治的60例重度MAS新生...     

Clinical and cellular studies in a patient with Cockayne syndrome]

Hypersensitivity to the lethal effect of ultraviolet light (UV) and other DNA-damaging agents has been observed in cells from patients affected by Cockayne syndrome, suggesting that this syndrome is deficient in the capability to repair damage in cellular DNA. We report a case showing the main clinical features of Cockayne syndrome in which the clinical and cellular photosensitivity described as typical for Cockayne syndrome is not present. These cytological results suggest that there is considerable clinical and cellular heterogeneity in Cockayne syndrome and that cellular sensitivity to UV might not be as essential for the diagnosis of Cockayne syndrome as previously thought.     

Hypothermia in children with severe neurological disabilities

Four severely disabled children who developed hypothermia during acute illness are described. A central defect in thermoregulation in the hypothalamus is likely, based on clinical observation and limited investigations, as well as similarities to sporadic cases reported in the literature. Disturbance of temperature regulation appears to be a rare complication of major brain injury in children, without necessarily occurring in association with pituitary dysfunction. It is of clinical importance because subnormal temperature may indicate severe sepsis.     

Collagen synthesis by fibroblasts in a patient with the Cockayne syndrome

A 13 year Jewish boy with the classical features of the Cockayne syndrome is reported. His parents were first cousins supporting autosomal recessive inheritance of this disorder. Fibroblasts were cultured from a skin biopsy and various aspects of collagen synthesis were analyzed and compared to two controls matched for age and sex. No abnormalities in collagen synthesis were observed in our patient.     

累及神经系统手足口病患儿临床特征及危重症危险因素分析

目的 探讨重症和危重症手足口病患儿典型的临床体征和辅助检查指标,丰富卫生部《手足口病诊疗指南》（2008年版）的内容。方法 以2008年5～12月在广州市妇女儿童医疗中心儿童医院住院治疗的累及神经系统手足口病重症和危重症患儿为研究对象。对临床特征和辅助检查结果进行汇总分析,比较重症组和危重症组神经、呼吸和循环系统表现,以及辅助检查结果的差异,Logistic回归分析重症进展为危重症的危险因素。结果 142例患儿进入分析,其中男88例,女54例;<3岁110例（77.5％）。重症组75例,危重症组67例。①高热82例(57.7％),热程(5.68±3.19) d;典型皮疹88例（62.0％）;②神经系统主要表现：肢体震颤107例(75.4%)、精神差93例(65.5%)、烦躁86例(60.6%)、双膝反射活跃或亢进79例(55.6%)、惊跳78例(54.9%)、呕吐73例(51.4%);③循环和呼吸系统主要表现：心率增快35例(24.6%)、CRT 3~5 s 34例(23.9%)、呼吸浅快31例(21.8%)、呼吸节律不规则29例(20.4%)、血压升高21例(14.8%)、CRT>5 s 19例(13.4%)、肺出血9例(6.3%);④辅助检查：WBC>12×109·L-1 55例(38.7%)、血糖升高90例(63.4%)、胸部X线片提示肺部渗出性病变36例(25.4%);⑤危重症组颈抵抗、肌张力增高或减低、抽搐、肢体无力、眼球运动异常、心率增快、血压升高、CRT 3~5 s或>5 s、呼吸浅快、呼吸节律不规则和肺部渗出性病变发生率均显著高于重症组;⑥多因素Logistic回归分析显示,心率增快（OR=17.918,95%CI:4.634~69.284）、CRT>5 s(OR=8.985, 95%CI: 1.568~51.488)、颈抵抗(OR=8.467,95%CI: 1.964~36.513)和肺部渗出性病变(OR=7.692, 95%CI:2.345~25.235)是重症患儿进展为危重症的危险因素;⑦治疗和预后：6例死亡,136例治愈或好转出院,随访6～12个月,未发现明显的智力落后、继发性癫及肢体瘫痪。结论 肢体震颤、精神差、烦躁、惊跳、呕吐及膝反射活跃或亢进是神经系统病变的早期症状和体征;心率增快、CRT>5 s、颈抵抗及肺部渗出性病变是手足口病重症患儿进展为危重症的高危因素。