Journal of pediatric genetics最新文献_第2页

Case Series of Ethylmalonic Encephalopathy from Southern India. 印度南部乙基丙二酸脑病病例系列。

IF 0.4

Journal of pediatric genetics Pub Date : 2023-09-01 DOI: 10.1055/s-0041-1740370

Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Kapil Jetha, Kiruthiga Sugumar, Meenakshi Bhat, Sanjay K Shivappa, Maya Bhat, Rita Christopher

{"title":"Case Series of Ethylmalonic Encephalopathy from Southern India.","authors":"Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Kapil Jetha, Kiruthiga Sugumar, Meenakshi Bhat, Sanjay K Shivappa, Maya Bhat, Rita Christopher","doi":"10.1055/s-0041-1740370","DOIUrl":"https://doi.org/10.1055/s-0041-1740370","url":null,"abstract":"Ethylmalonic encephalopathy is a rare neurometabolic disorder with central nervous system involvement and vasculopathy. It is presented in infancy with developmental delay, acrocyanosis, petechiae, chronic diarrhea, and early death. This was a retrospective study of confirmed cases of ethylmalonic aciduria from a tertiary care hospital over a period of 5 years from January 2015 to December 2020. Case details including analysis of clinical history, investigations, and outcomes are presented. Of six cases, male-to-female ratio was 4:2. Mean age of presentation was 35.5 months (range: 14-83 months). Consanguinity, global developmental delay, failure to thrive, skin rashes, microcephaly, hypotonia, and exaggerated deep tendon reflexes were observed in all cases. Chronic diarrhea was presented in five cases. The serum levels of C4 carnitine and urinary levels of ethylmalonic acid were increased in all cases. Magnetic resonance imaging (MRI) of the brain showed heterogenous bilateral symmetrical changes in the basal ganglia in five cases, and in one case, MRI could not be done. Genetic testing in two cases showed a homozygous variant in ETHE1 gene. Four children died, while the other two cases showed a decreased in recurrent encephalopathies and diarrhea after starting metronidazole. All children had global developmental delay, failure to thrive, skin rashes, central hypotonia, increased C4 carnitine levels in the serum, and increased ethylmalonic acid in the urine. Chronic diarrhea, acrocyanosis, and basal ganglia change in the MRI of the brain also give important clues for diagnosis. Metronidazole is useful in preventing recurrent episodes of encephalopathy.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10421674/pdf/10-1055-s-0041-1740370.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9995776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report. 唑尼沙胺治疗20环染色体综合征1例电临床改善。

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Journal of pediatric genetics Pub Date : 2023-09-01 DOI: 10.1055/s-0041-1726281

Stefano Parravicini, Ludovica Pasca, Martina Paola Zanaboni, Costanza Varesio, Elisa Rognone, Martina Totaro, Simone Gana, Elena Rossi, Valentina De Giorgis

引用次数: 0

Novel Radiological Brain Anomalies in a Patient with Congenital Muscular Dystrophy due to FKRP Mexican Founder Mutation c.1387A > G: Review of the Literature. FKRP墨西哥方正突变c.1387A > G引起的先天性肌营养不良患者的新型放射学脑异常:文献综述。

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Journal of pediatric genetics Pub Date : 2023-09-01 DOI: 10.1055/s-0041-1726470

Marivi Cervera-Gaviria, Julia Enterría-Rosales, Juan José Juárez-Vignon-Whaley, Julián García-Sánchez, Rodrigo Treviño-Velasco, Jaime Cervera-Gaviria

{"title":"Novel Radiological Brain Anomalies in a Patient with Congenital Muscular Dystrophy due to FKRP Mexican Founder Mutation c.1387A > G: Review of the Literature.","authors":"Marivi Cervera-Gaviria, Julia Enterría-Rosales, Juan José Juárez-Vignon-Whaley, Julián García-Sánchez, Rodrigo Treviño-Velasco, Jaime Cervera-Gaviria","doi":"10.1055/s-0041-1726470","DOIUrl":"https://doi.org/10.1055/s-0041-1726470","url":null,"abstract":"Mutations in the FKRP gene result in phenotypes with severe forms of congenital muscular dystrophies (CMD) and limb-girdle muscular dystrophies. We present a Mexican patient with a pathogenic homozygous mutation in the FKRP gene (c.1387A > G, p.Asn463Asp) and CMD with radiological brain anomalies as disseminated hyperintensity lesions and discrete generalized cortical atrophy. These findings have not been reported to the best of our knowledge in other patients with the same mutation. The mutation c.1387A > G, p.Asn463Asp in the FKRP gene has been described to have a founder effect in central Mexico, since all the patients described to date are of Hispanic origin. Therefore, we emphasize studying mutations in the FKRP gene in Hispanic pediatric patients with clinical suspicion of CMD. Clinical and molecular diagnosis of specific CMD subtypes is needed to help clarify the prognosis, management, and genetic counseling to the patient and families.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10421689/pdf/10-1055-s-0041-1726470.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9995777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome. 一种新的MN1基因致病变异在一名表现为菱脑突触和颅面异常的患者中，扩大了MN1 c端截断综合征。

IF 0.4

Journal of pediatric genetics Pub Date : 2023-09-01 DOI: 10.1055/s-0041-1728650

Carmen Palma Milla, Pérez Mohand Patricia, José M Lezana, Jaime Cruz, Juan F Quesada, Sara Vila, Isabel Álvarez-Mora, Ana Arteche-López, Irene Gómez-Manjón, M Teresa Sánchez, Maria José Gómez-Rodríguez, Jaime Sánchez, Marta Moreno-García

{"title":"A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome.","authors":"Carmen Palma Milla, Pérez Mohand Patricia, José M Lezana, Jaime Cruz, Juan F Quesada, Sara Vila, Isabel Álvarez-Mora, Ana Arteche-López, Irene Gómez-Manjón, M Teresa Sánchez, Maria José Gómez-Rodríguez, Jaime Sánchez, Marta Moreno-García","doi":"10.1055/s-0041-1728650","DOIUrl":"https://doi.org/10.1055/s-0041-1728650","url":null,"abstract":"Meningioma-1 is a transcription activator that regulates mammalian palate development and is required for appropriate osteoblast proliferation, motility, differentiation, and function. Microdeletions involving the MN1 gene have been linked to syndromes including craniofacial anomalies, such as Toriello-Carey syndrome. Recently, truncating variants in the C-terminal portion of the MN1 transcriptional factor have been linked to a characteristic and distinct phenotype presenting with craniofacial anomalies and partial rhombencephalosynapsis, a rare brain malformation characterized by midline fusion of the cerebellar hemispheres with partial or complete loss of the cerebellar vermis. It has been called MN1 C-terminal truncation (MCTT) syndrome or CEBALID (Craniofacial defects, dysmorphic Ears, Brain Abnormalities, Language delay, and Intellectual Disability) and suggested to be caused by dominantly acting truncated protein MN1 instead of haploinsufficiency. As a proto-oncogene, MN1 is also involved in familial meningioma. In this study, we present a novel case of MCTT syndrome in a female patient presenting with craniofacial anomalies and rhombencephalosynapsis, harboring a de novo pathogenic variant in the MN1 gene: c.3686_3698del, p.(Met1229Argfs*87).","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10421676/pdf/10-1055-s-0041-1728650.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10370951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Deficiency of Interleukin-1 Receptor Antagonist: New Genetic Autoinflammatory Disease as a Diagnostic Challenge for Pediatricians. 白细胞介素-1受体拮抗剂缺乏:新的遗传性自身炎症疾病作为儿科医生的诊断挑战。

IF 0.4

Journal of pediatric genetics Pub Date : 2023-09-01 DOI: 10.1055/s-0041-1724113

Andrea Rivera-Sepulveda, Francisco Colón-Fontánez, Maricarmen López, Gilberto Puig-Ramos

{"title":"Deficiency of Interleukin-1 Receptor Antagonist: New Genetic Autoinflammatory Disease as a Diagnostic Challenge for Pediatricians.","authors":"Andrea Rivera-Sepulveda, Francisco Colón-Fontánez, Maricarmen López, Gilberto Puig-Ramos","doi":"10.1055/s-0041-1724113","DOIUrl":"https://doi.org/10.1055/s-0041-1724113","url":null,"abstract":"Deficiency of interleukin-1 receptor antagonist is a rare autoinflammatory disease that affects infants early in life. It often presents with systemic inflammation, skin and bone involvement. We present a 5-month-old boy who was hospitalized due to generalized erythematous pustular eruption with secondary impetigo, cellulitis, bronchiolitis, and elevated inflammatory markers. The patient was unresponsive to multiple courses of intravenous antibiotics, systemic, and topical steroid medications. The patient was evaluated by dermatology and rheumatology services among other subspecialities. Skin biopsy showed changes consistent with psoriasiform dermatitis, while bone scans showed multifocal osteomyelitis. The patient was started empirically on anakinra with improvement at 72 hours upon administration. This is one of the youngest reported case in the literature to be started on anakinra empirically prior to genetic confirmation of the mutation. A comprehensive literature review revealed that approximately 20 genetically confirmed patients, including our patient, have been reported with this genetic disease. It is imperative to recognize this disease early to achieve adequate response and remission. Therefore, clinical symptoms and the associated differential diagnosis for this disease should be constantly reassessed and reviewed by pediatricians and subspecialists to detect the disease as early as possible and reduce the high morbidity and mortality associated with delayed diagnosis and treatment.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10421680/pdf/10-1055-s-0041-1724113.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9989405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Neu-Laxova's Syndrome: A Case Report of a Fetus with Novel Mutation in PHGDH Gene and a Literature Review. 新拉索瓦综合征:胎儿PHGDH基因突变1例并文献复习。

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Journal of pediatric genetics Pub Date : 2023-09-01 DOI: 10.1055/s-0041-1726038

Ravi Kapoor, Seema Thakur, Aakar Kapoor, Sunita Kapoor, Apurva Kalra, Aakriti Kapoor

引用次数: 0

Esophageal Stricture and Dermal Pathology Related to Compound Heterozygous Mutations in the TNXB Gene. 与TNXB基因复合杂合突变相关的食管狭窄和皮肤病理。

IF 0.4

Journal of pediatric genetics Pub Date : 2023-09-01 DOI: 10.1055/s-0041-1724048

Nida Mirza, Sundeep Upadhyaya, Sagar Mehta, Smita Malhotra, Anupam Sibal

引用次数: 0

CODE Think! Rare Mutations of STX3 Causing Microvillus Inclusion Disease. CODE Think！STX3的罕见突变导致微绒毛包涵体病

IF 0.4

Journal of pediatric genetics Pub Date : 2023-08-10 eCollection Date: 2023-12-01 DOI: 10.1055/s-0043-1772207

Elizabeth Mary John, Sajina Sathyan, Femitha Pournami, Ajai Kumar Prithvi, Anand Nandakumar, Jyothi Prabhakar, Naveen Jain

引用次数: 0

Chromosomal Abnormalities of Interest in Turner Syndrome: An Update. 特纳综合征的染色体异常：最新进展。

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Journal of pediatric genetics Pub Date : 2023-07-21 eCollection Date: 2023-12-01 DOI: 10.1055/s-0043-1770982

Marisol Ibarra-Ramírez, Luis Daniel Campos-Acevedo, Laura E Martínez de Villarreal

引用次数: 0

Genesis of a Fact: Tay-Sachs Disease as a "Simple Recessive". 事实的起源：泰-萨克斯病是一种 "简单隐性遗传病"。

IF 0.4

Journal of pediatric genetics Pub Date : 2023-06-12 eCollection Date: 2023-09-01 DOI: 10.1055/s-0043-1769115

Mark Lubinsky

{"title":"Genesis of a Fact: Tay-Sachs Disease as a \"Simple Recessive\".","authors":"Mark Lubinsky","doi":"10.1055/s-0043-1769115","DOIUrl":"10.1055/s-0043-1769115","url":null,"abstract":"\"Obvious\" recessive inheritance of Tay-Sachs disease (TSD; OMIM # 272800) took over half a century to be established. Points now taken for granted were problematic, that: (1) TSD is a biological entity, not an artificial selection of concurrent findings, (2) manifestations have narrow limits, (3) it was not part of a spectrum of disorders, and can be differentiated from other conditions, (4) it will not change to another disease, (5) it is due to a single specific gene, (6) there are no secondary causes, (7) the gene has no apparent clinical effects unrelated to TSD, and (8) the gene is inherited only as a clinical recessive. To a large extent, resolution reflected biochemical understanding that took until mid-20th century, and beyond, to change how physicians viewed diseases in general. With this, biochemical carrier screening and prenatal biochemical diagnosis have become routinely available, and it is a model for carrier population screening, while gene therapy for the disease has been reported with some degree of success. Here, the history of medical ideas about TSD and its inheritance are reviewed to show how it achieved its current status as a distinct recessive disorder.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10421688/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9989409","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0