S. Bajaj, Amit Vatkar, Vaibhav Barot, Shailesh R. Barot
{"title":"新生儿罕见的生物素-硫胺素反应性基底神经节疾病","authors":"S. Bajaj, Amit Vatkar, Vaibhav Barot, Shailesh R. Barot","doi":"10.1055/s-0042-1757150","DOIUrl":null,"url":null,"abstract":"Biotin-thiamine-responsive basal ganglia disease (BTBGD) has three subtypes: childhood-onset classic form, adult-hood-onset Wernicke-like encephalopathy, and the much rarer early infantile form. 1 The prognosis for the former two subtypes is favorable with timely diagnosis and compliant treatment, including oral thiamine and biotin. However, the early infantile form uniformly carries a poor prognosis. 2,3 Ourcasehighlights the clinical details of a neonatediagnosed with early infantile BTBGD, the seventh to be reported in literature and the fi rst from India. 2,3 Afemale child, second borntoanonconsanguineous Asian couple, was delivered through caesarean section due to cephalopelvic disproportion. There was no history of perina-tal asphyxia. Anthropometric parameters were normal, and she had an unremarkable pedigree. The patient fi rst manifested clinically on day 16 of life with repeated ocular twitching and tonic posturing of the limbs. Examination revealed an irritable sensorium, appen-dicular hypertonia, hyperre fl exia, and bilateral extensor plantars. Preliminary investigations (serum electrolytes, blood sugar, serum calcium, septic screen, blood culture, and cerebrospinal fl uid analysis) returned normal. She","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":null,"pages":null},"PeriodicalIF":0.3000,"publicationDate":"2022-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Rare Case of Biotin-Thiamine-Responsive Basal Ganglia Disease Presenting in a Neonate\",\"authors\":\"S. Bajaj, Amit Vatkar, Vaibhav Barot, Shailesh R. Barot\",\"doi\":\"10.1055/s-0042-1757150\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Biotin-thiamine-responsive basal ganglia disease (BTBGD) has three subtypes: childhood-onset classic form, adult-hood-onset Wernicke-like encephalopathy, and the much rarer early infantile form. 1 The prognosis for the former two subtypes is favorable with timely diagnosis and compliant treatment, including oral thiamine and biotin. However, the early infantile form uniformly carries a poor prognosis. 2,3 Ourcasehighlights the clinical details of a neonatediagnosed with early infantile BTBGD, the seventh to be reported in literature and the fi rst from India. 2,3 Afemale child, second borntoanonconsanguineous Asian couple, was delivered through caesarean section due to cephalopelvic disproportion. There was no history of perina-tal asphyxia. Anthropometric parameters were normal, and she had an unremarkable pedigree. The patient fi rst manifested clinically on day 16 of life with repeated ocular twitching and tonic posturing of the limbs. Examination revealed an irritable sensorium, appen-dicular hypertonia, hyperre fl exia, and bilateral extensor plantars. Preliminary investigations (serum electrolytes, blood sugar, serum calcium, septic screen, blood culture, and cerebrospinal fl uid analysis) returned normal. She\",\"PeriodicalId\":41283,\"journal\":{\"name\":\"Journal of Child Science\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.3000,\"publicationDate\":\"2022-09-29\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Child Science\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1055/s-0042-1757150\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Child Science","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1055/s-0042-1757150","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
Rare Case of Biotin-Thiamine-Responsive Basal Ganglia Disease Presenting in a Neonate
Biotin-thiamine-responsive basal ganglia disease (BTBGD) has three subtypes: childhood-onset classic form, adult-hood-onset Wernicke-like encephalopathy, and the much rarer early infantile form. 1 The prognosis for the former two subtypes is favorable with timely diagnosis and compliant treatment, including oral thiamine and biotin. However, the early infantile form uniformly carries a poor prognosis. 2,3 Ourcasehighlights the clinical details of a neonatediagnosed with early infantile BTBGD, the seventh to be reported in literature and the fi rst from India. 2,3 Afemale child, second borntoanonconsanguineous Asian couple, was delivered through caesarean section due to cephalopelvic disproportion. There was no history of perina-tal asphyxia. Anthropometric parameters were normal, and she had an unremarkable pedigree. The patient fi rst manifested clinically on day 16 of life with repeated ocular twitching and tonic posturing of the limbs. Examination revealed an irritable sensorium, appen-dicular hypertonia, hyperre fl exia, and bilateral extensor plantars. Preliminary investigations (serum electrolytes, blood sugar, serum calcium, septic screen, blood culture, and cerebrospinal fl uid analysis) returned normal. She