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Chromosome 1p36 Deletion Syndrome: Four Patients with Variable Presentations. 染色体 1p36 缺失综合征:四名表现各异的患者
IF 0.4 Pub Date : 2021-07-28 eCollection Date: 2023-12-01 DOI: 10.1055/s-0041-1732477
Chakshu Chaudhry, Divya Kumari, Inusha Panigrahi, Parminder Kaur

Chromosome 1p36 deletion accounts for around 1% of cases of intellectual disability. The pattern of clinical features includes developmental delay, hypotonia, seizures, short stature, intellectual disability, vision and hearing deficits, congenital heart disease, and renal abnormalities. The size of deletion can be variable. We report four cases of 1p36 deletion syndrome detected in the past 3 years in a genetic clinic. One patient was detected by next-generation sequencing, another by chromosomal microarray, and the remaining two by multiplex ligation-dependent probe amplification. We discuss the variable presentations in the four children. Early diagnosis enables better prognostication and further reproductive planning.

染色体 1p36 缺失约占智力残疾病例的 1%。临床特征包括发育迟缓、肌张力低下、癫痫发作、身材矮小、智力障碍、视力和听力障碍、先天性心脏病和肾功能异常。缺失的大小可以是多变的。我们报告了过去 3 年中在一家遗传诊所发现的 4 例 1p36 缺失综合征病例。其中一名患者是通过新一代测序发现的,另一名患者是通过染色体微阵列发现的,其余两名患者是通过多重连接依赖性探针扩增发现的。我们讨论了四名患儿的不同表现。早期诊断有助于更好地预后和进一步的生殖规划。
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引用次数: 0
A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1. 一例患有两种 COL2A1 基因突变的阿尔及利亚型脊柱软骨发育不良症重症病例
IF 0.4 Q4 PEDIATRICS Pub Date : 2021-07-26 eCollection Date: 2023-12-01 DOI: 10.1055/s-0041-1732474
Francisco Cammarata-Scalisi, Uta Matysiak, Colin E Willoughby, Gunda Ruzaike, Antonio Cárdenas Tadich, Maykol Araya Castillo, Carmen Zara-Chirinos, Ana Bracho, Andrea Avendaño, Houweyda Jilani, Michele Callea

Spondylometaphyseal dysplasia Algerian type (MIM no.: 184253) is an uncommon autosomal dominant skeletal dysplasia caused by heterozygous mutations in the COL2A1 gene (MIM no.: 120140). In this case based review, we reported a 5-year-old boy with short stature, severe dorsolumbar scoliosis, lumbar hyperlordosis, short trunk, and severe genu valgum . Radiological examination showed platyspondyly, irregular metaphyseal radiolucencies intermingled with radiodensities, and corner fractures. The patient has a c.3275G > A; p.Gly1092Asp mutation in exon 47 of the COL2A1 gene and a variant of unknown significance in c.1366-13C > A in intron 21. This latter sequence variant could partially or completely disrupt the natural splice acceptor site of intron 21/exon 22 in the COL2A1 gene leading to a potential modification of the phenotypic severity.

脊柱骨骺发育不良阿尔及利亚型(MIM 编号:184253)是一种不常见的常染色体显性骨骼发育不良,由 COL2A1 基因(MIM 编号:120140)的杂合子突变引起。在本病例回顾中,我们报告了一名患有身材矮小、严重背腰椎侧弯、腰椎过度伸展、躯干短小和严重膝下畸形的 5 岁男孩。放射学检查显示,他患有板状软骨发育不良、不规则的骨骺放射状突起与放射状骨密度混杂在一起以及拐角骨折。患者的 COL2A1 基因第 47 号外显子中存在 c.3275G > A; p.Gly1092Asp 突变,内含子 21 中的 c.1366-13C > A 变异意义不明。后一种序列变异可能会部分或完全破坏 COL2A1 基因内含子 21/ 外显子 22 的天然剪接受体位点,从而导致表型严重程度的潜在改变。
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引用次数: 0
Utility of Neonatal Findings in Early Diagnosis of a Case of Haberland Syndrome. 新生儿检查结果在早期诊断哈伯兰综合征病例中的实用性。
IF 0.4 Pub Date : 2021-07-19 eCollection Date: 2023-12-01 DOI: 10.1055/s-0041-1731687
Morgan R Sturgis, Kathryn E Wrobel, Gianna N Bosco, Carolyn H Jones

Haberland syndrome or encephalocraniocutaneous lipomatosis (ECCL) is a rare, congenital syndrome characterized by lipomas and noncancerous tumors of the scalp, skin, and eyes, in addition to intellectual disability, early onset seizures, and ectomesodermal dysgenesis. The diagnosis of ECCL is classically made by clinical presentation, imaging, and histopathological findings, but due to the spectrum of clinical presentation and symptom severity, diagnosis is often delayed until adolescence or adulthood. Here we present a newborn male infant, one of the earliest case diagnoses to our knowledge, with a unique constellation of physical exam and neuroimaging findings consistent with this diagnosis. We aim to address important neonatal findings to aid in early detection and diagnosis of this unique disease, which is thought to improve clinical outcomes and patient quality of life.

哈伯兰综合征(Haberland Syndrome)或脑颅皮肤脂肪瘤病(ECCL)是一种罕见的先天性综合征,其特征是头皮、皮肤和眼睛出现脂肪瘤和非肿瘤,此外还伴有智力障碍、早发癫痫和外胚层发育不良。ECCL的诊断通常是通过临床表现、影像学检查和组织病理学检查结果做出的,但由于其临床表现和症状严重程度不同,诊断往往被推迟到青春期或成年期。在这里,我们介绍了一名新生男婴,这是我们所知最早确诊的病例之一,其独特的体格检查和神经影像学检查结果与该诊断一致。我们旨在探讨新生儿期的重要发现,以帮助早期发现和诊断这种独特的疾病,从而改善临床预后和患者的生活质量。
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引用次数: 0
Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1 -Related Congenital Centronuclear Myopathy. 明显的面部无力、上睑下垂和下颌下垂:一个与 RYR1 相关的先天性中心核肌病病例
IF 0.4 Pub Date : 2021-07-03 eCollection Date: 2023-12-01 DOI: 10.1055/s-0041-1731683
Bhanudeep Singanamalla, Shivan Kesavan, Divya Aggarwal, Debajyoti Chatterjee, Andoni Urtizberea, Renu Suthar

Congenital myopathies are an expanding spectrum of neuromuscular disorders with early infantile or childhood onset hypotonia and slowly or nonprogressive skeletal muscle weakness. RYR1 -related myopathies are the most common and frequently diagnosed class of congenital myopathies. Malignant hyperthermia susceptibility and central core disease are autosomal dominant or de novo RYR1 disorder, whereas multiminicore, congenital fiber type disproportion and centronuclear myopathy are autosomal recessive RYR1 disorders. The presence of ptosis, ophthalmoparesis, facial, and proximal muscles weakness, with the presence of dusty cores and multiple internal nuclei on muscle biopsy are clues to the diagnosis. We describe an 18-year-old male, who presented with early infantile onset ptosis, ophthalmoplegia, myopathic facies, hanging lower jaw, and proximal muscle weakness confirmed as an RYR1 -related congenital centronuclear myopathy on genetic analysis and muscle biopsy.

先天性肌病是一种范围不断扩大的神经肌肉疾病,在婴儿期或儿童期发病,表现为肌张力低下和缓慢或非进行性骨骼肌无力。与 RYR1 相关的肌病是最常见和最常诊断的一类先天性肌病。恶性高热易感性和中枢核心病是常染色体显性或新发的 RYR1 疾病,而多核心病、先天性纤维型比例失调和中心核肌病则是常染色体隐性的 RYR1 疾病。上睑下垂、眼瘫、面部和近端肌肉无力,以及肌肉活检中出现尘核和多内核是诊断的线索。我们描述了一名 18 岁的男性患者,他在婴儿期就出现了上睑下垂、眼肌麻痹、肌病面容、下颌下垂和近端肌无力,经基因分析和肌肉活检确诊为与 RYR1 相关的先天性中心核肌病。
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引用次数: 0
Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature. 沃尔夫-赫希霍恩综合征伴甲状旁腺功能亢进:病例报告与文献综述
IF 0.4 Pub Date : 2021-06-26 eCollection Date: 2023-12-01 DOI: 10.1055/s-0041-1729751
Changqing Xia, Dibyendu Kumar, Bei You, Deanna L Streck, Lisa Osborne, James Dermody, Jie-Gen Jiang, Beth A Pletcher

Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion condition. The WHS core phenotype includes developmental delays, intellectual disabilities, seizures, and distinctive facial features. Various other comorbidities have also been reported, such as hearing loss, heart defects, as well as eye problems and kidney problems. In this report, we present a case of WHS accompanied by hyperparathyroidism and hypercalcemia, which has not been previously reported. A girl was born at 37 weeks of gestation by vaginal delivery. She was small for the gestational age (2,045 g) and admitted to neonatal intensive care unit. She had typical WHS facial features and was found to have bilateral small kidneys associated with transient metabolic acidosis and renal insufficiency. She had right-sided sensorineural hearing loss, a small atrial septal defect, and colpocephaly and hypoplasia of corpus callosum. She had a single seizure which was well controlled with an oral antiepileptic medication. Cytogenetic studies demonstrated a large terminal chromosome 4p deletion (21.4 Mb) and 4p duplication (2.1 Mb) adjacent to the deletion. A unique finding in this patient is her consistently elevated levels of parathyroid hormone and serum calcium, suggesting hyperparathyroidism. We present this rare case along with a review of the literature and hope to draw an attention to a potential relationship between WHS and hyperparathyroidism.

沃尔夫-赫希霍恩综合征(WHS)是一种连续基因缺失病。沃尔夫-赫希霍恩综合征的核心表型包括发育迟缓、智力障碍、癫痫发作和独特的面部特征。此外,还有其他各种合并症的报道,如听力损失、心脏缺陷、眼部问题和肾脏问题。在本报告中,我们介绍了一例伴有甲状旁腺功能亢进和高钙血症的 WHS 病例,这是以前从未报道过的。一名女孩在妊娠37周时经阴道分娩出生。她的胎龄较小(2,045 克),被送进新生儿重症监护室。她有典型的 WHS 面部特征,双侧肾脏较小,伴有一过性代谢性酸中毒和肾功能不全。她有右侧感音神经性听力损失、小的房间隔缺损、头盖骨畸形和胼胝体发育不全。她曾有过一次癫痫发作,口服抗癫痫药物后得到了很好的控制。细胞遗传学研究显示,她的4p染色体末端大缺失(21.4 Mb),缺失旁有4p重复(2.1 Mb)。该患者的一个独特发现是她的甲状旁腺激素和血清钙水平持续升高,表明她患有甲状旁腺功能亢进症。我们介绍了这一罕见病例,并回顾了相关文献,希望能引起人们对WHS与甲状旁腺功能亢进之间潜在关系的关注。
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引用次数: 0
Genetic Characterization of a Model Ciliopathy: Bardet-Biedl Syndrome. 一种典型纤毛病的遗传特征:Bardet-Biedl综合征。
IF 0.4 Pub Date : 2021-06-01 Epub Date: 2020-03-31 DOI: 10.1055/s-0040-1708844
Samantha A Kops, Ranjit I Kylat, Shanti Bhatia, Michael D Seckeler, Brent J Barber, Mohammad Y Bader

Bardet-Biedl syndrome (BBS) is a rare ciliopathy affecting multiple organ systems. Patients with BBS are usually diagnosed later in childhood when clinical features of the disease become apparent. In this article, we presented a case of BBS discovered by whole genome sequencing in a newborn with heterotaxy, duodenal atresia, and complex congenital heart disease. Early diagnosis is important not only for prognostication but also to explore ways to mitigate the cone-rod dysfunction and for exploring newer therapies. Our case highlights the importance of a high index of suspicion and the utility of advanced genetic testing to provide an early diagnosis for a rare disease.

Bardet-Biedl综合征(BBS)是一种罕见的影响多器官系统的纤毛病。BBS患者通常在儿童期临床特征变得明显时才被诊断出来。在这篇文章中,我们报告了一个通过全基因组测序在异位、十二指肠闭锁和复杂先天性心脏病的新生儿中发现BBS的病例。早期诊断不仅对预后很重要,而且对探索减轻锥杆功能障碍的方法和探索新的治疗方法也很重要。我们的病例突出了高怀疑指数的重要性,以及先进的基因检测对罕见疾病提供早期诊断的效用。
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引用次数: 1
Clinical Profile and Outcome of Indian Children with Aromatic L-Amino Acid Decarboxylase Deficiency: A primary CSF Neurotransmitter Disorder Mimicking as Dyskinetic Cerebral Palsy. 芳香l -氨基酸脱羧酶缺乏症的印度儿童的临床特征和结果:一种原发性脑脊液神经递质障碍,类似于运动障碍脑瘫。
IF 0.4 Pub Date : 2021-06-01 Epub Date: 2020-07-27 DOI: 10.1055/s-0040-1714690
Vykuntaraju K Gowda, Hemadri Vegda, Balamurugan B Nagarajan, Sanjay K Shivappa

Aromatic L-amino acid decarboxylase (AADC) deficiency is a disorder of neurotransmitter synthesis. It presents with psychomotor delay, dystonia, oculogyric crisis, and autonomic features. There is paucity of literature on this disorder. Hence, we are reporting this series with an objective to study profile and outcome of Indian children with AADC deficiency. In this retrospective review, all case records of genetically confirmed cases of AADC deficiency at the pediatric neurology department in a tertiary care hospital, from March 2014 to March 2020, were analyzed. The data were extracted in a predesigned proforma and analyzed. Out of seven cases, five were males. Median age of onset of symptoms was 4 months but median age of diagnosis was 12 months. All of them had developmental delay, oculogyric crisis, dystonia, increased sweating, intermittent fever, feeding and sleep disturbance, irritability, failure to thrive, axial hypotonia with dyskinetic quadriparesis, and normal magnetic resonance imaging (MRI) of brain and electroencephalogram (EEG). All of them were treated with pyridoxal 5-phosphate, trihexyphenidyl and pramipexole and six cases, in addition, were given bromocriptine. One case was additionally treated with selegiline. One case showed good improvement, five showed partial improvement, and one case expired. In conclusion, AADC deficiency should be suspected in any child with dyskinetic quadriparesis, oculogyric crisis, autonomic disturbances like increased sweating, intermittent fever, and sleep disturbance with normal neuroimaging.

芳香l -氨基酸脱羧酶(AADC)缺乏是一种神经递质合成障碍。它表现为精神运动迟缓、肌张力障碍、眼部危象和自主神经特征。关于这种疾病的文献很少。因此,我们报道这个系列的目的是研究印度AADC缺乏症儿童的概况和结果。在本回顾性研究中,分析了2014年3月至2020年3月在某三级医院儿科神经内科遗传确诊的AADC缺乏症的所有病例记录。数据以预先设计的形式提取并分析。在7个病例中,有5个是男性。出现症状的中位年龄为4个月,但诊断的中位年龄为12个月。所有患者均有发育迟缓、眼功能危象、肌张力障碍、出汗增多、间歇性发热、进食和睡眠障碍、易怒、发育不全、轴向张力低下伴运动障碍性四肢瘫,脑磁共振成像(MRI)和脑电图(EEG)正常。5-磷酸吡哆醛、三己苯醚和普拉克索治疗6例,另外给予溴隐亭治疗。1例患者加用selegiline治疗。改善1例,部分改善5例,过期1例。总之,任何有运动障碍四肢瘫、眼神经危象、自主神经障碍如出汗增多、间歇性发热和睡眠障碍的儿童,在神经影像学正常的情况下,都应怀疑存在AADC缺乏。
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引用次数: 2
A Case of Neonatal Diabetes Mellitus Due to INS Gene Mutation with Maternal Mosaicism and Atypical Presentation. 新生儿糖尿病因INS基因突变伴母体嵌合体及不典型表现1例。
IF 0.4 Pub Date : 2021-06-01 Epub Date: 2020-05-12 DOI: 10.1055/s-0040-1710341
Varuna Vyas, Deepthi K, Kuldeep Singh

Neonatal diabetes mellitus is a single gene defect that results in diabetes mellitus in the first 6 months of life. We report a child who was diagnosed to be hyperglycemic at 13 months of life and assumed to have type 1 diabetes mellitus and started on insulin. The child came to us at 2 and 1/2 years of age. He had exceptionally good blood glucose control. His history revealed that he was symptomatic with a voracious appetite and poor weight gain since the second half of infancy. Genetic testing revealed a heterozygous mutation of the INS gene (the gene that codes for insulin). The condition has autosomal dominant inheritance. Testing the parents revealed that the mother had 7.8% mosaicism for this variant in her lymphocyte DNA. Though this did not alter the management of the patient, it did help in counseling the parents regarding risk of recurrence in future pregnancies.

新生儿糖尿病是一种单基因缺陷,可在出生后6个月内导致糖尿病。我们报告一个孩子谁被诊断为高血糖在13个月的生活和假设有1型糖尿病,并开始使用胰岛素。这个孩子在两岁半的时候来到我们这里。他的血糖控制得特别好。他的病史显示,他的症状是食欲旺盛,体重增加缓慢,从婴儿的后半期开始。基因检测显示INS基因(编码胰岛素的基因)发生杂合突变。该病具有常染色体显性遗传。对父母的测试显示,母亲的淋巴细胞DNA中有7.8%的嵌合性。虽然这并没有改变对患者的管理,但它确实有助于就未来怀孕复发的风险向父母提供咨询。
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引用次数: 0
Anesthetic Challenges of an Adolescent Patient with Epidermolysis Bullosa and Gitelman's Syndrome Undergoing Posterior Spinal Fusion Surgery. 一名患有大疱性表皮松解症和吉特曼综合征的青少年患者接受后路脊柱融合手术的麻醉挑战。
IF 0.4 Pub Date : 2021-06-01 Epub Date: 2020-04-25 DOI: 10.1055/s-0040-1710329
Edgar E Kiss, Neethu Chandran, Gijo Alex, Patrick Olomu

Surgical correction for scoliosis is undertaken to avoid progression to cardiopulmonary compromise as well as improve the patient's overall quality of life. In this case report, we presented a case of a 14-year-old girl with epidermolysis bullosa simplex and Gitelman's syndrome who underwent posterior spinal fusion for scoliosis. The perioperative planning and intraoperative management of a patient with this unique combination of comorbidities undergoing a complex, high-risk surgical procedure were not previously chronicled in the literature. We detailed the steps undertaken to optimize the patient prior to surgery and the unique intraoperative surgical and anesthetic considerations that led to a successful completion of the surgery and recovery.

脊柱侧凸的手术矫正是为了避免进展到心肺损害以及改善患者的整体生活质量。在这个病例报告中,我们提出了一个14岁的单纯大疱性表皮松解症和Gitelman综合征的女孩,她接受了脊柱侧凸的后路脊柱融合术。这一独特的合并症患者在接受复杂、高风险的外科手术时的围手术期计划和术中处理在以前的文献中没有记录。我们详细介绍了术前优化患者的步骤,以及独特的术中手术和麻醉注意事项,从而成功完成手术和恢复。
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引用次数: 0
GATA 4 Deletions Associated with Congenital Heart Diseases in South Brazil. 巴西南部地区与先天性心脏病相关的GATA 4缺失
IF 0.4 Pub Date : 2021-06-01 Epub Date: 2020-07-29 DOI: 10.1055/s-0040-1714691
Maiara A Floriani, Andressa B Glaeser, Luiza E Dorfman, Grasiela Agnes, Rafael F M Rosa, Paulo R G Zen

The normal development of the heart comprises a highly regulated machinery of genetic events, involving transcriptional factors. Congenital heart disease (CHD), have been associated with chromosomal abnormalities and copy number variants (CNVs). Our goal was to investigate through the multiplex ligation-dependent probe amplification (MLPA) technique, the presence of CNVs in reference genes for normal cardiac development in patients with CHD. GATA4 , NKX2-5 , TBX5 , BMP4 , and CRELD1 genes and 22q11.2 chromosome region were analyzed in 207 children with CHD admitted for the first time in a cardiac intensive care unit from a pediatric hospital. CNVs were detected in seven patients (3.4%): four had a 22q11.2 deletion (22q11DS) (1.9%), two had a GATA4 deletion (1%) and one had a 22q11.2 duplication (0.5%). No patients with CNVs in the NKX2-5 , TBX5 , BMP4 , and CRELD1 genes were identified. GATA4 deletions appear to be present in a significant number of CHD patients, especially those with septal defects, persistent left superior vena cava, pulmonary artery abnormalities, and extracardiac findings. GATA4 screening seems to be more effective when directed to these CHDs. The investigation of CNVs in GATA4 and 22q11 chromosome region in patients with CHD is important to anticipating the diagnosis, and to contributing to family planning.

心脏的正常发育包括一个高度调控的遗传事件机制,包括转录因子。先天性心脏病(CHD)与染色体异常和拷贝数变异(CNVs)有关。我们的目的是通过多重结扎依赖探针扩增(MLPA)技术来研究CNVs在冠心病患者心脏正常发育的内参基因中的存在。对某儿科医院心脏重症监护病房首次入住的207例冠心病患儿的GATA4、NKX2-5、TBX5、BMP4和CRELD1基因及22q11.2染色体区域进行分析。在7例(3.4%)患者中检测到CNVs: 4例有22q11.2缺失(22q11DS)(1.9%), 2例有GATA4缺失(1%),1例有22q11.2重复(0.5%)。未发现NKX2-5、TBX5、BMP4和CRELD1基因CNVs的患者。GATA4缺失似乎存在于相当数量的冠心病患者中,特别是那些有室间隔缺损、持续性左上腔静脉、肺动脉异常和心外病变的患者。GATA4筛查在针对这些冠心病患者时似乎更有效。研究冠心病患者GATA4和22q11染色体区域的CNVs对预测冠心病的诊断和计划生育具有重要意义。
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引用次数: 5
期刊
Journal of pediatric genetics
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