Unusual case of biotin-thiamine responsive encephalopathy without basal ganglia involvement
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CASE REPORT
Unusual case of biotin-thiamine responsive encephalopathy without basal ganglia involvement Ryan D. Kelsch 1 & Danielle A. Nolan 2 & Anant Krishnan 1,3 Received: 21 April 2020 / Revised: 21 July 2020 / Accepted: 25 August 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Biotin-thiamine-responsive encephalopathy, also known as biotin-responsive basal ganglia disease, is characterized by high T2 signal in the basal ganglia (caudate and putamina), which is reported as a typical feature of the disorder. Brain magnetic resonance imaging in our patient, who presented with irritability, poor feeding and prolonged seizures, found multiple areas of restricted diffusion in the cerebral cortex and thalami leading to an initial diagnosis of a mitochondrial disorder. The basal ganglia were not affected. More characteristic chronic findings of T2 prolongation and volume loss were later seen in our patient. The child improved with biotin and thiamine supplementation, a well-known feature of the condition. It is important for the radiologist and treating team to be aware of this variant and pursue further investigations to avoid delay in care and potential fatality. Keywords Basal ganglia . Biotin-thiamine-responsive encephalopathy . Brain . Infant . Magnetic resonance imaging . Metabolic . SLC19A3
Introduction
Case report
Biotin-thiamine-responsive encephalopathy, also known as biotin-responsive basal ganglia disease, is a rare metabolic encephalopathy caused by a mutation in the SLC19A3 gene that encodes for a thiamine transporter. SLC19A3-related disorders include three phenotypes, a severe infantile presentation, the biotin-thiamine responsive basal ganglia disease phenotype that presents in childhood, and the Wernicke encephalopathy phenotype that presents in adulthood [1, 2]. Biotin-thiamine-responsive encephalopathy typically refers to the infantile and childhood phenotypes, and will be discussed as such. Cases reported in the literature of this disease thus far demonstrate basal ganglia involvement. We present and discuss a pediatric case without involvement of the basal ganglia.
A 1-month-old boy presented to our institution with irritability, poor feeding and prolonged seizures. Head computed tomography (CT) in the emergency department revealed subtle hypodense areas in the bilateral thalami and perirolandic white matter (Fig. 1). The patient was admitted and was found to have frequent focal seizures from the left posterior quadrant, at times meeting criteria for status epilepticus, refractory to several typical anti-seizure medications. At this time, magnetic resonance imaging (MRI) of the brain was ordered (Fig. 2), which demonstrated large areas of restricted diffusion involving the perirolandic white matter, centrum semiovale, left parietooccipital lobe and the thalami. No involvement of the basal ganglia was seen. A follow-up MRI was performed 6 days later to assess for progression in brain lesions given the continued prolonged clustering of seizures. The second MRI demons
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