新生儿罕见的生物素-硫胺素反应性基底神经节疾病

IF 0.3 Q4 PEDIATRICS Journal of Child Science Pub Date : 2022-09-29 DOI:10.1055/s-0042-1757150
S. Bajaj, Amit Vatkar, Vaibhav Barot, Shailesh R. Barot
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引用次数: 0

摘要

生物素-硫胺素反应性基底神经节病(BTBGD)有三种亚型:儿童期发病的经典型,成年期发病的韦尼克样脑病,以及更为罕见的早期婴儿型。1前两种亚型的预后良好,及时诊断和依从性治疗,包括口服硫胺素和生物素。然而,早期的婴儿形式通常预后较差。我们的病例强调了一名被诊断为早期婴儿BTBGD的新生儿的临床细节,这是文献中报道的第7例,也是印度的第1例。2,3女性,第二个出生在非近亲亚洲夫妇,由于头骨盆比例失调而通过剖腹产分娩。无围产期窒息史。人体测量参数正常,家谱平平。患者于出生后第16天首次临床表现为反复的眼球抽搐和四肢强直姿势。检查显示感觉激激,阑尾高张力,水肿和双侧足底伸肌。初步调查(血清电解质、血糖、血清钙、脓毒症筛查、血培养和脑脊液分析)恢复正常。她
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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
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