Rare Treatable Cause of Demyelinating Leukoencephalopathy That One Cannot Afford to Miss [0.03%]
不可忽视的罕见可治性脱髓鞘脑病原因
Vykuntaraju K Gowda,Sukanya Vignesh,Balamurugan Nagarajan et al.
Vykuntaraju K Gowda et al.
Biotinidase deficiency is a treatable neurometabolic disorder. It usually presents during the first year of life with seizures, ataxia, hypotonia, vision and hearing disturbance, alopecia, and skin rashes. It can have various neuroimaging f...
GRID2 Mutation-Related Spinocerebellar Ataxia Type 18: A New Report and Literature Review [0.03%]
GRID2突变相关的脊小脑共济失调18型：一例报道及文献复习
Prateek Kumar Panda,Indar Kumar Sharawat,Lesa Dawman
Prateek Kumar Panda
Spinocerebellar ataxias (SCAs) are heterogeneous disorders with multiple genetic etiology. Mutations in the GRID2 gene are associated with spinocerebellar ataxia type 18 (SCA-18). We report the first Indian case of SCA-18. The proband is a ...
Wolman's Disease: A Rare Cause of Infantile Cholestasis and Cirrhosis [0.03%]
沃曼病：一种罕见的婴幼儿胆汁淤积和肝硬化的病因
Jagadeesh Menon,Naresh Shanmugam,Sripriya Srinivas et al.
Jagadeesh Menon et al.
Liver cirrhosis in infancy can be secondary to various etiologies such as biliary atresia, familial cholestatic and metabolic disorders. Wolman's disease (WD) is a lysosomal storage disorder caused by the absence of lysosomal acid lipase en...
Association of Macrophage Migration Inhibitory Factor Gene -173 G/C Polymorphism (rs755622) with Familial Mediterranean Fever in Children [0.03%]
儿童迁移抑制因子基因-173G/C多态性与地中海发热家族的关系研究
Nursen Cakan,Resul Yılmaz,Erhan Karaaslan et al.
Nursen Cakan et al.
Objectives The aim of this study was to identify the genotypic analysis and allele frequencies of the -173 G/C polymorphism in the macrophage migration inhibitory factor ( MIF ) gene in children diagnosed with familial Mediterranean fever (...
Microvillus Inclusion Disease: A Rare Mutation of STX3 in Exon 9 Causing Fatal Congenital Diarrheal Disease [0.03%]
微绒毛包涵病的罕见STX3基因突变导致的致命性先天腹泻病
Femitha Pournami,Alok Kumar Mk,Anila V Panackal et al.
Femitha Pournami et al.
Inherited diarrheal disorders cause serious morbidity resulting in dependence on intensive care and parenteral nutrition. Microvillus inclusion disease (MVID) has been classically described and results from mutations in the gene coding myos...
Genetic and Clinical Approach To Microcephaly: A 5-Year Single Center Experience [0.03%]
微头畸形的遗传和临床研究五年单中心经验
Muhsin Elmas,Umit Can Yildirim
Muhsin Elmas
Microcephaly is a dysmorphic feature characterized by small head size more than two standard deviations below the mean for age, sex, and ethnicity. There are several etiological factors ranging from environmental toxins or infections to gen...
Wiedemann-Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features [0.03%]
威登曼-斯坦纳综合征：发育迟缓和特殊面容的罕见病因
Kursat Bora Carman,Emre Kaplan,Cefa Nil Aslan et al.
Kursat Bora Carman et al.
Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder characterized by dysmorphic features, neurodevelopmental delay, growth retardation, and hypertrichosis cubiti. It is caused by pathogenic variants in the KMT2A gene. Here, we repor...
X-linked Hypophosphatemic Rickets: Awareness, Knowledge, and Practice of Pediatric Endocrinologists in Arab Countries [0.03%]
阿拉伯国家儿科内分泌学家对X连锁低磷血症佝偻病的认知、知识和实践状况调查
Asma Deeb,Fahad Al Juraibah,Muhammad Al Dubayee et al.
Asma Deeb et al.
X-linked hypophosphatemic rickets (XLHR) is a genetic disease caused by inactivating pathogenic variants in PHEX , which results in reduced mineralization of bone, teeth, and renal phosphate wasting. XLHR is traditionally treated by phospha...
Blue Cone Monochromatism: A Case Report with Opsoclonus and Light Exposure [0.03%]
蓝锥单色视网膜病变1例报告及光暴露反应和体位诱发的 opsoclonus 现象
Carlos Llorente-La-Orden,Bárbara Burgos-Blasco,Blanca Domingo-Gordo et al.
Carlos Llorente-La-Orden et al.
Blue cone monochromatism (BCM) is a rare X-linked congenital vision disorder that is characterized by a cone dysfunction. We present a case of a 3-year-old boy referred to our department with abnormal eye movements since birth, impaired vis...
Genetic Testing in the Pediatric Nephrology Clinic: Understanding Families' Experiences [0.03%]
儿科肾脏病门诊中的基因检测：了解家庭的体验
Suzanne M Nevin,Jordana McLoone,Claire E Wakefield et al.
Suzanne M Nevin et al.
Genomics is rapidly being integrated into the routine care of children and families living with renal disease, principally as a diagnostic tool but also to direct therapy, identify at-risk relatives, and facilitate family planning. However,...