Journal of Pediatric Neurology
DOI: 10.1055/s-0040-1716346
Case Report

Biotin–Thiamine Responsive Basal Ganglia Disease Presented as Intractable Seizure in a 1-Month-Old Infant

Jaya Verlani
1  Department of Pediatrics, Atal Bihari Vajpayee Institute of Medical Sciences and Dr. Ram Manohar Lohia Hospital, New Delhi, India
,
Sheetal Agarwal
2  Department of Pediatrics, Division of Pediatric Pulmonology and Intensive Care, Atal Bihari Vajpayee Institute of Medical Sciences and Dr. Ram Manohar Lohia Hospital, New Delhi, India Hospital, New Delhi, India
,
1  Department of Pediatrics, Atal Bihari Vajpayee Institute of Medical Sciences and Dr. Ram Manohar Lohia Hospital, New Delhi, India
,
3  Dr. Ram Manohar Lohia Hospital and Post Graduate Institute of Medical Education and Research, New Delhi, India
,
Ruby Singh
1  Department of Pediatrics, Atal Bihari Vajpayee Institute of Medical Sciences and Dr. Ram Manohar Lohia Hospital, New Delhi, India
› Author Affiliations

Abstract

Biotin–thiamine responsive basal ganglia disease is a neurometabolic disorder, seen in children presenting with encephalopathy, seizures, and positive family history. The disease is diagnosed based on typical magnetic resonance imaging (MRI) findings and whole exome sequencing but may be initially misdiagnosed as a mitochondrial encephalopathy or an inborn error of metabolism (IEM). We describe the case of an infant who presented with uncontrolled seizures and encephalopathy, responding to high doses of thiamine and biotin. Life-long supplementation of biotin (2–10 mg/kg/day) and thiamine (200–300 mg/day) improves the symptomatology and prevents relapse. Outcomes of the disease are heterogeneous, ranging in scope from complete remission to severe neurological sequelae.



Publication History

Received: 30 May 2020

Accepted: 28 July 2020

Publication Date:
04 September 2020 (online)

Georg Thieme Verlag KG
Stuttgart · New York